Archives for posts with tag: ibd

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:

coop et al - mean within-country ibd rates

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’)”:

ralph and coop - mean number of ibd blocks

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.]:

europe map - ralph & coop ibd rates + hajnal line

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:

ralph and coop - mean number of ibd blocks by region

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

europe map - ralph & coop regional ibd rates + hajnal line

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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i’ve inserted phillpotts’ “end of the germanic kindreds” dates on top of ralph and coop’s “mean within-country ibd rates” map — just ’cause i could. here’s what it looks like:

coop et al - mean within-country ibd rates + phillpotts' kindreds 03

the idea is that greater inbreeding ought to lead to greater “clannishness” — i.e. a greater prevalence of kindreds in the case of the germanics, and kindreds for longer the longer the inbreeding happened — while outbreeding ought to lead to less “clannishness.”

this map maybe kinda/sorta shows that (i think).

if you look at, for instance, the region from france through belgium and up through the netherlands towards dithmarschen (the black square on the map and “ground zero” for clannishness amongst the medieval germanic populations), the pattern does seem to hold: where there are lower ibd rates (i.e. suggesting lower inbreeding), as in northern france, the kindreds disappeared earlier (1300s) than where there are higher ibd rates, namely friesland (1400s). and the ibd rates increase the closer you get towards dithmarschen.

germany, too, has low ibd rates (relatively small green circle centered on berlin there — smaller than friesland’s circle), and, according to phillpotts, kindreds were pretty much gone in central/southern germany by the 1200s.

and norway has lower ibd rates than sweden, and the kindreds disappeared there sooner (1200s) than in sweden (1300s).

i would’ve predicted lower ibd rates for england, especially now given what phillpotts said about the kindreds in anglo-saxon england being gone by the 600-700s — although perhaps that had to do with their migration over water like she suggested and wasn’t related to whether or not they were inbreeding or outbreeding at the time. on the other hand, lorraine lancaster argued that kindreds were actually still around in england into the 1000s, so perhaps that explains the ibd rates a bit better — or vice versa, rather (but see below).
_____

btw, i looked a little further into the sources of the genetic data that ralph and coop used for their ibd study [pdf]. the data came from popres (The Population Reference Sample), and afaict (correct me if i’m wrong) the european data in the popres collection came from two sources: the london-based Lolipop Study and the swiss-based CoLaus study.

the lolipop study surveyed both indian asian and white european individuals living in london [pdf] — i’m sure ralph and coop used only the white european individuals for their study of europe, of course. only europeans having four grandparents born in the u.k. were included, so i guess that must make them all british (english, welsh, scottish, northern irish) — but they could also be irish. the inclusion of welsh, scottish, and/or irish individuals could’ve skewed the ibd results. ralph and coop seem to have isolated some number of scottish and irish individuals (see their map above), but it’s not clear to me if those individuals were from the lolipop study or the colaus one.

the colaus study looked at caucasians living in lausanne, switzerland, who were either swiss or from another european(?) country. both the subjects’ parents and grandparents had to have been born in whatever country they were described as coming from. the researchers tried to further narrow down their ethnicity during a clinical visit. i presume it was from this study that ralph and coop drew the rest of their samples, including the data from: germany, france, belgium, the netherlands, norway, and sweden — possibly england, too. it’s difficult to know because they don’t spell it all out specifically. these data could be skewed, too, for my purposes — for example, hypothetically speaking, due to the presence of a lot of non-french, but still european, individuals in the set of samples of france. again, difficult to know.

finally, here are the numbers of individuals from each country sampled by ralph and coop. some of them are kinda low — like n=2 for norway:

coop et al - mean within-country ibd rates - popres data samples

previously: ibd and historic mating patterns in europe and medieval germanic kindreds … and the ditmarsians

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*update below*

remember this map from ralph & coop [pdf]?:

coop et al - mean within-country ibd rates

those are the mean ibd (identity by descent) rates for various populations in europe. the bigger the circle, the greater the number of ibd blocks larger than 1cM in length shared in common between each populations’ members. so, the larger the circles, the more segments of dna the individuals within those population share in common — i.e. the more alike they are genetically.

well, i never added the hajnal line to that map like i usually like to do for any map of europe that lands on my desktop (see here and here for examples). how remiss of me! (recall that populations within the hajnal line have had a historic tendency to marry late.)

i thought i’d better rectify this situation … so, here it is! mean ibd rates for europe PLUS the hajnal line. enjoy!:

coop et al - mean within-country ibd rates + hajnal line

update: see also jayman’s More on Farming and Inheritance Systems – Part I: IQ.

previously: ibd and historic mating patterns in europe and behind the hajnal line and todd’s family systems and the hajnal line

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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

(note: comments do not require an email. not out on a limb, am i?)

**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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