more on ibd and historic mating patterns in europe

t (thanks, t!) points me to this article (this story seems to be making the rounds this a.m.):

“All Europeans are related if you go back just 1,000 years, scientists say”

“A genetic survey concludes that all Europeans living today are related to the same set of ancestors who lived 1,000 years ago….

“The researchers were surprised to find that even individuals living as far apart as Britain and Turkey shared a chunk of genetic material 20 percent of the time. To explain that degree of genetic commonality, the researchers say those pairs of individuals would have to have a huge number of common genealogical ancestors 1,000 years ago — a number that takes in everyone who was alive in Europe back then….”

the results of the survey being discussed here have just been published on plos biology: The Geography of Recent Genetic Ancestry across Europe.

before i go on to discuss the bits i’m interested in (the identity by descent, or ibd, rates that they found), i just want to quote something from the plos article related to this business that all europeans share the same set of ancestors that lived 1,000 years ago. yes, we do, but keep in mind that:

“[S]omeone in Spain may be related to an ancestor in the Iberian peninsula through perhaps 1,000 different routes back through the pedigree, but to an ancestor in the Baltic region by only 10 different routes, so that the probability that this Spanish individual inherited genetic material from the Iberian ancestor is roughly 100 times higher. This allows the amount of genetic material shared by pairs of extant individuals to vary even if the set of ancestors is constant.”

in other words, some europeans are more related to one another than to others. but we all knew that already.

anyway…

this is the same (really awesome!) study done by ralph and coop that i posted about last year here and here. (oh, and here, too.) some of the data were available online back then after the researchers had given a presentation somewhere or other [pdf].

i’m interested in ibd data since they, like runs of homozygosity (roh), can give us some clues about how inbred or outbred populations are. it’s not a clear-cut interpretation, though, because both ibd and roh can be affected by other population genetic processes like bottlenecks and migration and simply population size (and probably other things, too, about which i am blissfully ignorant), so one has to make some educated inferences and guesses.

unfortunately, the authors don’t seem to have included in the plos publication the following illustration from their earlier presentation (unless it’s buried in the supplemental data — i didn’t see it there, but there’s a LOT of supplemental data files). that’s a shame, because it’s one of the most interesting:

the map shows the mean ibd rates for each of the european populations studied (the mean length of the blocks was >1 cM). individuals in the populations with higher mean ibd rates (bigger circles) share more identical stretches of their dna with their fellow countrymen than those in populations with low mean ibd rates. lots of outbreeding can lower the amount and lengths of ibd blocks in a population. as i posted previously, i think you can see the historic (since the early medieval period) outbreeding patterns of western europeans in the low mean ibd rates in western europe. this pattern is even clearer when you add the hajnal line to the map (the hajnal line being a good indicator of the geographical limits of the roman catholic church’s/secular authorities’ push to, amongst other things, ban cousin marriage in the medieval period).

now, here from the plos paper is a table indicating “mean number of IBD blocks shared by a pair of individuals from that population (‘self’), and mean IBD rate averaged across all other populations (‘other’)”:

i put the mean ibd “self” (i.e. within a population) numbers on a map and added the hajnal line. (note that the “mean length of these blocks was 2.5 cM, the median was 2.1 cM, and the 25th and 75th quantiles are 1.5 cM and 2.9 cM, respectively”.) [click on map for LARGER view.]:

ralph and coop suggest that the rates are so high in eastern europe, and particularly the balkans, because of the fairly recent slavic migration into the area and the fact that the slavs settled in relatively uninhabited areas. they further suggest that the germanic migrations into western europe are not so apparent in the ibd rates since these were already heavily populated areas and maybe even that the germanics were an heterogeneous group to start off with. those are really good theories (especially the one about the slavs), and i think that — yeah — we are probably seeing signals of those migrations in these data. however, once again, i think you can also see the long-term historic inbreeding/outbreeding (greater cousin marriage vs. little cousin marriage) mating patterns of european populations reflected in the ibd rates. (see “mating patterns in europe series” below ↓ in left-hand column for more details on all the mating patterns which i mention in the next few paragraphs.)

my “core europeans” — the english, the french, the belgians, the dutch, the germans, the north italians (not so much the ones in the alps, though), and to some extent the swiss and scandinavians — have the longest history of outbreeding (i.e. avoiding cousin marriage) in europe beginning in the early medieval period — and they have the lowest ibd rates. the rates are a bit higher for scandinavia since they converted to christianity later and, thus, didn’t adopt the cousin marriage bans until later. same with the irish and the scots (in fact, i think that highland scotland should be indicated as being outside the hajnal line, but that’s a discussion for another day). that the netherlands has a higher ibd rate than neighboring belgium and germany also makes sense if you know about the (probable) late adoption of the cousin marriage bans by those living in the marshes like the ditmarsians.

the ibd rates are higher east of the hajnal line and that, too, makes sense if you know that the eastern orthodox church was both later at instituting and less consistent in enforcing cousin marriage bans. the very high rates in albania and kosovo are probably related to the fact that these populations include a majority of muslims and that muslims typically have no bans on marrying cousins (while the albanians, and likely the kosovans [or whatever you want to call them!], have probably avoided paternal cousin marriage, maternal cousin marriage seems to have been an option, possibly even preferred).

the very low rate in italy is puzzling and, as i have said elsewhere, may have to do with the fact that, as the authors suggest, italy has experienced so many influxes of different populations. alternatively, it may have to do with a sampling bias (i.e. where did the italian samples come from? the more outbred north, or the more inbred south?).

the authors also broke down the ibd rates by several european regions of their own devising: “These five groupings are defined as: Europe ‘E,’ lying to the east of Germany and Austria; Europe ‘N,’ lying to the north of Germany and Poland; Europe ‘W,’ to the west of Germany and Austria (inclusive); the Iberian and Italian peninsulas ‘I’; and Turkey/Cyprus ‘TC.’” here is their table:

i made a map — and added the hajnal line (of course!):

again, there’s the east-west divide that i’ve pointed out before and which, i think, corresponds to the edge of the hajnal line. there also seems to be a north-south divide, which is apparent on both sides of the east-west (fuzzy) border, and which may have to do with long-standing lower population densities in northern europe. (that does make sense if you think about it — smaller populations inevitably experience closer matings or greater “inbreeding.”)

mating patterns matter! particularly long-term mating patterns. i think so anyway.

previously: ibd and historic mating patterns in europe and ibd rates for europe and the hajnal line and ibd rates and kindreds in germanic populations and russians, eastern europeans, runs of homozygosity (roh), and inbreeding and western europeans, runs of homozygosity (roh), and outbreeding and runs of homozygosity and inbreeding (and outbreeding) and runs of homozygosity again

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the kato

i thought i’d start running through pinker’s “war deaths chart” to see if i can work out any/some of these populations’ mating patterns. already posted about the semai (low violence rates, outbreeders) and the yąnomamö (greater violence rates than the semai, inbreeders).

now i’m just going to begin at the top of the list and work my way down — so today it’s the cato kato indians of california (or the cahto depending on your spelling preferences):

as you can see, the kato are at the top of pinker’s list. (in the 1840s, the kato were fighting the yuki, so remind me to post about them, too.)

from The North American Indian. Volume 14 [pg. 11]:

“Marriage was arranged between the two persons concerned without consulting anybody else. Having secured a girl’s consent her lover went clandestinely that night to sleep with her, and at dawn he stole away. The secret was preserved as long as possible, perhaps for several days, and the news of the match transpired without formal announcement, even the girl’s parents learning of their daughter’s marriage in this indirect fashion. His marriage no longer a secret, the young man might then erect a house of his own. The bond was no more easily tied than loosed, for either could leave the other for any reason whatever, the man retaining the male children and the woman the female. Children were not regarded as belonging any more to the paternal than to the maternal side. When adultery was discovered, the only result was a little bickering and perhaps an invitation to the offender to take up permanent relations with the new love.”

sounds like cousin marriage was not insisted upon in kato society. otoh, sounds like there were no proscriptions against it, either. so matings in kato society could’ve been close — at least some of the time.

from Native Americans: An Encyclopedia of History, Culture, and Peoples [pgs. 156-57]:

“Marriage was generally a matter between the couple involved, although girls were generally prepubescent when married. The Cahto practiced polygyny as well as the taboo that prevented a man from addressing his mother-in-law directly. Divorce was easily obtained for nearly any reason.”

again, no apparent insistence upon, or prohibitions against, cousin/other close marriage. however, from here [pg. 247] we learn that the pre-contact kato population was ca. 1,100 individuals. that’s not very many! with such a small population, it would be very difficult, indeed, to avoid inbreeding. (don’t forget, too, because native americans went through a bottleneck coming to the americas, they’re all relatively related to one another — genetically speaking. so any inbreeding would be even more inbred than in other populations — if that’s the right way to put it [i know it's not!].)

interestingly, from Handbook of North American Indians, Volume 8: California [pg. 244]:

“The Cahto lacked a true tribal organization. During precontact time there are estimated to have been 50 villages, with the permanent settlement situated in the three valleys where the town of Cahto once stood, and the towns of Branscomb and Laytonville now stand.”

another question is whether or not the kato married non-kato people. they were, apparently, on quite friendly terms with the pomo indians and many of them spoke pomo. did they marry out? dunno.

so, the kato? i’m gonna call it: probable inbreeding.

kato lady (she looks nice!):

previously: the semai and the fierce people

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the hgdp samples again

i’ve written before (here, here and here) about the hgdp samples and the fact that there is very little to no provenance info connected to them. the problem with this, afaics, is that it’s difficult to know whether or not the hgdp samples are truly representative, in all ways, of the populations from which they came.

i was particularly concerned initially about the french (and the japanese) hgdp samples — and then i got over that — but now i’m concerned about them again. here’s why:

the hgdp samples from france are described thusly:

“France – French/various regions (relatives) – This sample from various regions of France is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH). This sample consists of unrelated individuals and was collected with proper informed consent.”

great!

hang on — which regions?

auvergne? where, in some villages in the eighteenth century, groups of families regularly inbred with one another? lorraine? which, in some areas, had consanguinity rates of up to 50% between 1810 and 1910? burgundy or brittany, both of which had reportedly higher cousin marriage rates in the nineteenth and twentieth centuries than other regions of france? or were the hgdp samples collected in places like central france which, historically, had much lower rates (in the range of 1-3.5%) of close marriages?

the thing is: we don’t know.

what we do know is that the hgdp sampling seems kinda biased towards unique little groups like basques and orcadians, sardinians and the adygei. which is understandable ’cause these are all interesting, unusual groups and there’s legitimate concern that their unique genomes might sorta disappear in our modern, outbreeding world, and it would be a shame to miss out on the chance to at least keep a record of all that human biodiversity.

but then i have to wonder how representative of the majority of french people are the french hgdp samples? do they truly represent “the french,” or did the samples come from some of those crazy little villages way up in the mountains? i dunno. and neither does anybody else (afaik).

and the reason i wonder is: if teh scientists are gonna do really awesome genetic studies to check for the relatedness between the members of different human populations — like runs of homozygosity (roh) studies or identity by descent (ibd) studies — i think they need to know if the samples they’re looking at are representative or not. do the results for “the french” in studies like this or this or this truly represent the average french, or do they represent some special sub-groups of mountain dwelling french?

in the most recent roh study i posted about, the “french” don’t appear to be much more in- or out-bred than orcadians or the basques, something which strikes me as odd. perhaps — perhaps — that’s because the french hgdp samples are not truly representative of the broader french population. perhaps. i don’t know. nor do the researchers.

rinse and repeat above discussion for the other samples, too.

previously: hgdp samples and relatedness and more on the hgdp samples and why i care about the hgdp samples and meanwhile, in france… and runs of homozygosity and inbreeding (and outbreeding) and ibd and historic mating patterns in europe and runs of homozygosity again

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runs of homozygosity again

**update below**

here’s an exciting new paper!: Genomic Patterns of Homozygosity in Worldwide Human Populations. i don’t have access to the paper itself, but there are lots o’ neat figures and tables in the supplemental data [opens pdf] that relate to runs of homozygosity (roh). roh are identical stretches of dna within an individual’s genome (i.e. identical on each of the dna strands, paternally and maternally inherited). (roh shouldn’t be confused with blocks of identity by descent [ibd], which i did once! ibd blocks are identical stretches of dna as compared between different individuals, iiuc.)

recall that possessing lots of long roh indicates that one’s parents are/were quite similiar genetically speaking. that can be as a result of a couple of different genetic scenarios like (as greying wanderer has brought up a lot recently) simply being from a small sized population (i.e. having a small effective population size) and/or from regular inbreeding (consanguineous/endogamous mating). so, a population having a lot of long roh is either small and/or inbreeds a lot. populations having LOTS of short roh have probably been through some sort of bottleneck (see previous post).

in the paper i looked at in that previous post, the researchers had looked at the different roh lengths for large, regional populations like “europeans” or “east asians.” amongst other things, they had found that some of my regular inbreeders — the fbd marriage folks — had some of the highest numbers of medium and long roh, a state of genetic affairs which likely reflects their long-term close mating patterns. interestingly, the researchers had found that east asians had roh lengths similar to those of europeans across the board, something which surprised me since, at least according to what i’ve been reading, east asians (i.e. the chinese) have been inbreeding for a much longer time than europeans. one drawback of that previous study, though, was that, apart from the french, most of the european populations they looked at were peripheral groups who have had a tendency to inbreed more than my “core” europeans (see mating patterns in europe series below ↓ in left-hand column).

the new paper suffers from some of the same problems since the data come from the same sources (hgdp-ceph and hapmap phase 3 populations), so northern europeans — apart from the french — aren’t included in this paper either. (what can you do? it’s early days yet. i look forward to when there’s lots more genetic data available out there for teh scientists to work with! (^_^) )

what the researchers in this paper have done, though, is to look at both the different mean lengths of roh in each of the different populations sampled AND they looked at total numbers of roh within individuals for each population. this has, i think, drawn out some interesting differences between the populations.

first, here are two graphics from the supplmental data (linked to above). click on each for LARGER views (they should open in new tabs/windows — you might have to click on them again there to super-size them).

i’ve highlighted a handful of populations i want to focus on ’cause i know a little something about their historic mating patterns: the bedouin (as a proxy for the arabs — note that the bedouin have probably inbred more than more settled arabs); italians (not sure if they’re northern or southern italians or a mix of both — however, there are tuscans in the samples with which these “italians” can be compared); pathan or pastuns (more fbd marriage folks, like the bedouins/arabs); and han chinese (there are some northern han chinese with whom this groups can be compared). ok. here are the charts:

as you can see, the researchers have split up the roh into three classes (note that the short and medium classes here are a lot shorter than those in the paper looked at previously):

- A: 0.25-0.40 Mb (short)
- B: 0.6-1.2 Mb (medium)
- C: 0-35 Mb (long)

the interesting thing in the first chart above (Fig. S3 – Mean ROH Length for Each of the Three Size Classes in Each Population), is that the han chinese have lower means of roh length in all of the size classes compared to the other populations i’ve highlighted. in the previous study, the researchers found that east asians had similar means to europeans for all roh lengths. i found this surprising since, from what i’ve read, the han chinese have been inbreeding for a longer period of time than europeans. what might be confounding the results though, once again, is the fact that nw europeans (the outbreeders extraordinaire) are not really included in either of these studies apart from a handful of french samples.

in this latest study, both the bedouin and the pashtun, for instance, have higher means — and wider spreads — of long (class C) roh than the italians, which is what i would’ve expected since those two groups (the bedouins and the pashtuns) are, being fbd marriage folks, serious inbreeders. perhaps the reason the han chinese long roh mean is comparatively low is partly due to the fact that they historically practiced mother’s brother’s daughter (mbd) marriage which doesn’t push towards such close inbreeding as fbd marriage. still, i would’ve expected to see greater means of roh for the chinese than the italians — or, at least, around the same. not so much lower. (unless the italians practiced fbd marriage, too — or fzd marriage — but i don’t think so.)

if you look at the second chart (Fig. S4 – Total Number of ROH in Individual Genomes), however, you’ll see that, overall, the han chinese have more short, medium and long roh totally in individual genomes than any of the other three populations i’ve highlighted. both the bedouins and the pashtuns have greater numbers/wider total spread of long roh than the italians, but the han chinese have a much greater total number of long roh than any of the other three groups — three or four times as many.

but they’re, on average, shorter long roh don’t forget. (confusing, eh?!)

perhaps this is what you get when you have — as the chinese have had — a pretty good-sized effective population size for such a long time. there have been a LOT of han chinese for — wow — millennia.

so, it looks like this (in this order of inbrededness — i think):

- bedouins: highest mean, and very wide spread, of long roh; high total numbers, and widest spread, of long roh.
- pashtun: low mean, but widest spread, of long roh; low total number, but very wide spread, of long roh.
- han chinese: very low mean, and very narrow spread, of long roh; highest total numbers, and wide spread, of long roh.
- italians: low mean, and rather wide spread, of long roh; very low total number, and very small spread, of long roh.

other interesting points are that:

- the tuscans/tsi (toscani) appear to have lower short, medium and long mean roh than the generic “italian” category. however, the tuscans have lower total numbers of long roh than the “italians” while the toscani (tsi), on the other hand, appear to have a greater total number of long roh than the “italians.” while the tuscan samples and the toscani/tsi samples are from different studies (hgdp vs. hapmap), they are all supposed to be from tuscany, so it’s surprising that they’re so different. perhaps the individuals in the toscani/tsi sample were more closely related somehow?

- the northern han samples have lower short, medium and long mean roh than the generic “han” category. this would fit my general impression that historically inbreeding has been greater in southern china than in the north. however, the total number of long roh are greater in the northern han sample than in the “han” sample. not sure what that means.

don’t forget that there can be all sorts of reasons for differences in roh: inbreeding vs. outbreeding, yes, but also effective population size, population movement (migration in or out), bottlenecks, etc. i just happen to be interested in trying to pick out the effects of inbreeding/outbreeding — if possible.
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**update - here are a couple of excerpts from the article (thnx, b.b.!) [pgs. 277, 279-281]:

“Size Classification of ROH

“Separately in each population, we modeled the distribution of ROH lengths as a mixture of three Gaussian distributions that we interpreted as representing three ROH classes: (A) short ROH measuring tens of kb that probably reflect homozygosity for ancient haplotypes that contribute to local LD [linkage disequilibrium] patterns, (B) intermediate ROH measuring hundreds of kb to several Mb that probably result from background relatedness owing to limited population size, and (c) long ROH measuring multiple Mb that probably result from recent parental relatedness….

“In each population, the size distribution of ROH appears to contain multiple components (Figure 2A). Using a three-component Gaussian mixture model, we classified ROH in each population into three size classes (Figure 2B): short (class A), intermediate (class B), and long (class C). Size boundaries between different classes vary across populations (Table S1); however, considering all populations, all A-B boundaries are strictly smaller than all B-C boundaries (Figure 2C). The mean sizes of class A and B ROH are similar among populations from the same geographic region (Figure S3), with the exception that Africa and East Asia have greater variability. The class C mean is generally largest in the Middle East, Central/South Asia, and the Americas and smallest in East Asia (Figure S3), with the exception that the Tujia population has the largest values. In the admixed Mexican population (MXL), mean ROH sizes are similar to those in European populations. In the admixted African American population (ASW), however, mean ROH sizes are among the smallest in our data set, notably smaller than in most Africans and Europeans.

“Geographic Pattern of ROH

“Several patterns emerge from a comparison of the per-individual total lengths of ROH across populations (Figure 3). First, the total lengths of class A (Figure 3A) and class B (Figure 3B) ROH generally increase with distance from Africa, rising in a stepwise fashion in successive continental groups. This trend is similar to the observed reduction in haplotype diversity with increasing distance from Africa. Second, total lengths of class C ROH (Figure 3C) do not show the stepwise increase. Instead, they are higher and more variable in most populations from the Middle East, Central/South Asia, Oceania, and the Americas than in most populations from Africa, Europe, and East Asia. This pattern suggests that a larger fraction of individuals from the Middle East, Central/South Asia, Oceanis, and the Americas tend to have higher levels of parental relatedness, in accordance with demographic estimates of high levels of consanguineous marriage particularly in populations from the Middle East and central/South Asia, and it is similar to that observed for inbreeding-coefficient and identity-by-descent estimates. Third, in the admixed ASW and MXL individuals, total lengths of ROH in each size class are similar to those observed in populations from Africa and Europe, respectively (Figure 3).

“The total numbers of ROH per individual (Figure S4) show similar patterns to those observed for total lengths (Figure 3). However, in East Asian populations, total numbers of class B and class C ROH per individual are notably more variable across populations than are ROH total lengths.”

previously: runs of homozygosity and inbreeding (and outbreeding) and ibd and historic mating patterns in europe

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ibd and historic mating patterns in europe

**update 08/03: post fixed to remove references to roh which i got wrong (roh≠blocks of ibd!) — see comments below (thanks, citrus!)**

princenuadha points me to this awesome pdf which i guess was a presentation given at a society for molecular biology and evolution (smbe) conference last weekend (thanks, prince!).

here is an interesting graphic from the presentation (pg. 21):

what this map shows are the means of runs of homozygosity (remember those?) blocks of identity by descent (ibd) that are greater than 1cM for each of these european populations. the longer the ibd blocks, the greater the identity by descent, and vice versa. small circles=fewer long blocks of ibd; large circles=more long blocks of ibd.

if a population has lots of short blocks of ibd, then its genetics are all mixed up, possibly due to outbreeding or because of a fairly recent mixing with another population. if a population has lots of long blocks of ibd, then its genetics are not so mixed up and the individuals within it share a lot of identity by descent. this can be an indicator of having been squeezed through a bottleneck or close inbreeding over time.

here are the mean numbers of long blocks of ibd for some of the countries on the map:

as you can see, my “core europeans” (english, french, germans, dutch, prolly some others) all have low means of blocks of ibd. the smallest circles are found right in the center of nw europe: england, france, belgium, germany. also italy (more about that below). in the immediate periphery around core europe, the circles are a bit larger, i.e. there are more long blocks of ibd: scotland, ireland, spain, portugal, switzerland, greece, scandinavians. eastern europeans have even larger circles/even more long blocks of ibd: poles, russians. and populations in the balkans, like the albanians, have enormous circles, i.e. LOTS of long blocks of ibd.

all of that fits the pattern i’ve been talking about here on the ol’ blog (see the mating patterns series below in the left-hand column): that the core europeans have been outbreeding the most and for the longest, with peripheral europeans lagging behind that trend, and eastern europeans really lagging behind the trend. i haven’t actually discussed the balkan populations (yet), but i do know that cousin/endogamous marriage rates are pretty high in the balkans.

i wonder if the numbers for italy may be unrepresentatively low, but it’s difficult to know. the data used are from popres and, like so much genetic data out there, have no provenance info attached to them. so, are the italian data from northern italy (which has a long history of outbreeding) or southern italy (which has a lot of inbreeding) or a combination of both? dunno.

this is a very cool study! i like it a lot. (^_^)

polish gen also has an interesting post about the presentation, btw.

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hgdp samples and relatedness

**update 03/22: see follow up post — more on the hgdp samples — and just ignore what i said about the french samples below.**

**update 08/28: ignore what i said about ignoring what i said about the french samples. see here.**
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i had a post up back in january about some cool research that looked at what runs of homozygosity (roh) in samples from the human genome diversity project (hgdp) can tell us about the inbreeding or outbreeding of different human populations.

but i’ve been bothered by the thought of how the hgdp samples were gathered. as professor harpending said:

“No one knows, by the way, how sampling was carried out for this nor for any of the HGDP populations.”

ugh. the hgdp is really, really cool — but not having info on where the samples came from — like genealogical info — poses a problem if you want to use this data to look at recent inbreeding/outbreeding or, i think, even the sort of thought experiment that prof. harpening conducted a couple of weeks ago, however cool that was, too.

here’s an example of what i mean.

prof. harpending compared the relatedness or kinship of the individuals in a couple of sets of samples from the hgdp: the french, the japanese, and the druze. he found that the kinship of indviduals in both the french and japanese populations to their nearest “relatives” (i presume two individuals who had the most similar genomes?) is very similar. as he said: “from the viewpoint of kinship, one person is not very different from another person.” the druze, otoh, are very dissimilar and the good professor thinks that this is a population in which “opportunities for discord and clannishness are high as individuals able to discriminate kin would ally against the ‘others.’”

i’m not going to argue with that! the druze, like the arabs, regularly practice father’s brother’s daughter (fbd) marriage, the most incestuous form of cousin marriage around, so i’m not surprised that their genomes reflect this fact. (fbd marriage probably originated in the levant, so it could be that the people who are today known as the druze are the product of one of the longest running close-inbreeding projects in humans around.) amongst the druze, each extended-family or clan must’ve become, over time, it’s own little semi-isolated sub-group. like the arabs, i’d expect a lot of clannishness and infighting.

however, wrt to the french and japanese samples: the ceph folks do have some information on the hgdp samples, and one point of difference between the french and japanese samples is that the french samples are described as having been drawn from relatives whereas the japanese samples were not.

there are 29 french samples described as: French (various regions) relatives, and there are 31 japanese samples described as just Japanese, so i assume that means the japanese samples do not include relatives.

so what does French (various regions) relatives mean? i guess that the samples were drawn from different regions of france, but we don’t know which regions or how many. (which is too bad because different regions of france have, historically, had different inbreeding rates.) and how many relatives? who knows? i’m going to presume all 29 are not relatives from one family living scattered across the country, although i suppose that could’ve been the case. what seems more likely to me is that we’re looking at groups of samples from a number of different families, but how many? two, three, four … ten? again, who knows?

what difference would this make? well if the kinship in the french set of samples and the japanese set of samples look to be around the same, i.e. “one person is not very different from another,” BUT the french samples are from relatives and the japanese samples are not, then that would mean that the individuals in the broader french population must be even more like one another than the individuals in the broader japanese population since french family members have the same kinship to one another as japanese strangers do.

to put it more simply, comparing the french and japanese samples is like comparing apples and oranges because, if the ceph information is correct, the french samples include family members whereas the japanese ones do not.

the druze samples, too, are described as coming from relatives — again no info as to how many families/relatives — so the broader druze population should prove to be even more dissimilar to one another than these family members are.

i would love to see lots more studies done on inbreeding/outbreeding (and possible inclusive fitness-related behaviors) in human populations from a genetics p.o.v. — like what prof. harpending did in his recent post. but afaics, using the hgdp data is problematic. i look forward to when there are more whole genome sequences available out there WITH accompanying genealogical/pedigree information.

previously: runs of homozygosity and inbreeding (and outbreeding)

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more roh

in “Genomic Runs of Homozygosity Record Population History and Consanguinity” that i posted about yesterday, kirin, et. al., say:

“Europeans and East Asians have very similar ROH profiles in all but the shortest category (0.5-1 Mb). There are no significant differences between either the percentage of individuals with ROH of different lengths or sum length of ROH above different length thresholds (>1.5 Mb) for these two continental groupings (File S1). This is not surprising because both of these groups are mainly represented here by fairly large populations with no documented preference for consanguineous marriage.“

ehhhhhhh … well … if they’re talking about now, i.e. in the present, then yeah — that’s probably pretty right. but many of the european populations that they looked at (i.e. from the human genome diversity project [hgdp]), regularly practiced some to quite a lot of consanguineous marriages up until fairly recently. (i haven’t checked into the asian populations that they looked at.)

the european populations that they looked at are: the adygeis, the basques, french folks, italians, orcadians, russians, sardinians and tuscans.

the adygeis are the circassians and it’s my understanding that they have avoided cousin marriage for quite some time, although they are endogamous (obviously). the russians — religious russians, anyway — avoid first- and second-cousin marriage. but the basques and the french have had some signficant amounts of consanguineous marriage up until quite recently. and the italians and sardinians?! holy toledo! of all of these groups, it’s probably the tuscans that have avoided cousin marriage for the longest. (dunno about the orkney islanders.)

like i said yesterday, if anything, kirin, et. al., have probably got some of the most inbred europeans in their sample.

anyway … i took at look at their supplemental info [opens pdf] and found that they’ve included data for the proportion (percentage) of the genomes from each group that are covered in “runs of homozygosity” (roh). the more roh in your — or your population’s — genome(s), the more inbred you (all) are (or maybe the smaller your gene pool is — see yesterday’s post). when i took out just the europeans plus the han chinese and japanese and a couple of other interesting groups, here’s what i got:

most of the european groups have the least number of roh (these are roh of all different lengths). the han chinese are like the italians or the sardinians, who have a long and recent history of close marriages (not so much the northern italians) — and the japanese even more so. wikipedia tells us that cousin marriage was preferred in china until the mid-twentieth century, so there you go.

and the father’s brother’s daughter’s marriage groups? their roh are higher than the inbred europeans, the han chinese and the japanese.

you can see here, too, that the japanese have greater numbers of longer roh than french people (the black circles are the japanese, the orange circles are the french) — that means more recent inbreeding amongst the japanese (click on image for LARGER view – should open in new tab/window):

interestingly, many balochis (green circles) have fewer and shorter roh than the french — many have more and longer. dunno what that tells us about the balochi. new blood? tribes merging with (fairly) unrelated tribes? just plain ol’ out-marriage?

here are the percentages of the genomes covered by roh for each of the populations in the study in ascending order. i tried to match the colors for the continental groupings from the chart in yesterday’s post — dunno if i succeeded?:

previously: runs of homozygosity and inbreeding (and outbreeding)

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runs of homozygosity and inbreeding (and outbreeding)

here’s a really neat chart! (click on image for LARGER view. should open in new tab/window.):

what does it mean? well…

some very clever researchers/geneticists took a look for “runs of homozygosity” (roh) in the genomes of the individuals in the human genome diversity project (hgdp) — that’s 1043 individuals from 51 different populations. “runs of homozygosity” are stretches in the genome where identical dna was inherited from each parent. if you inbreed, you’re gonna have a greater number of longer runs of homozygosity in your genome than if you don’t.

apart from being just plain fun, sex shuffles up genomes from one generation to the next (presumably for some good reason or another). if you were to clone yourself, your descendants would have (pretty much) the same exact genome as you. if you were to mate with your mother or your sister (i know — ewwww!), your descendants would have different genomes from you, but they’d have lots of roh in their genomes ’cause their dna came from you and someone with whom you share a lot dna in common. the farther out you mate, the less homozygosity there’s likely to be.

you might also have lots of roh in your genome if you come from a population that has little genetic diversity — ’cause maybe your ancestors went through some sort of bottleneck or something.

inbreeding with close relatives — like marrying your first- or second-cousins (consanguineous matings) — leads to long roh since you share so much of your dna with your closest family members. endogamous mating — just mating within your population but not your close cousins — also leads to roh, but not ones as long as mating with your close relatives. you share dna with others in your population (say your clan or your ethnic group), but not so much of exactly the same dna or genes in certain stretches as with your closer relatives. a population will little genetic diversity, but that does not inbreed, will have lots of short roh — they share a lot of stretches of dna in common, but all of the outbreeding shuffles up the genomes within the population.

so that’s:

- long roh = inbreeding, probably consanguineous (first-/second-cousin matings)
- medium roh = endogmaous mating within a population
- short roh = little genetic diversity in the population probably from an event like a population bottleneck

i’m oversimplifying, but that’s the gist of it.

so what did the researchers find when they looked at the 51 populations in the hgdp (see chart)?

- LOTS of short roh (1-2 Mb) within populations from oceania and central/south america, probably because those populations went through bottlenecks. the people from oceania have low amounts of long roh (>16 Mb), which means that they don’t inbreed closely much. however, the people from central/south america have the highest amount of long roh of all the groups, so that’s means they must inbreed closely a LOT.

- central/south asians, west asians, east asians, europeans and africans don’t have huge amounts of short roh — at least not compared to the folks in oceania and the americas. no big bottlenecks there. and africans, in fact, have the fewest short roh.

- central/south asians and west asians have pretty high amounts of roh in all of the middle ranges and the highest long roh after the native american populations. this indicates significant amounts of endogamy and close relative marriages (but we already knew that).

- the groups with the lowest amounts of long roh are the europeans, africans and east asians — in that order. in other words, it appears as though, of these three groups, africans and europeans inbreed more closely (first- or second-cousin marriage, say) than east asians.

if you’ve been following along, you know that’s not what hbd chick expected. i thought that east asians would’ve had more short roh than europeans ’cause they have a fairly recent history of close marriages. hmmmm….

i checked to see which populations of europeans are included in the hdgp (you can find a list in the article’s supplemental material here [opens pdf]) and they are: adygeis, basques, french folks, italians, orcadians, russians, sardinians and tuscans. apart from the french and the tuscans, all of these groups have recent (or current) histories of consanguineous or endogamous mating practices (see Inbreeding in Europe series below in left-hand column for more details), so they are not a fully representative sample of europeans. unfortunately, “core” europe, which contains the most outbred populations in europe, is not included in the hgdp and, therefore, not in this study.

*sigh*

still — this is interesting stuff! genetics. cool! i’m going to post more about this ’cause, for one thing, it should be possible to drill down further into these populations to compare them more specifically (there are some data available in the supplemental materials). so, more anon…!

thanks to prof. harpending for pointing out this article! (^_^)

*update 08/20: see also runs of homozygosity again

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