greying wanderer (thanks, grey!) pointed out to me (via) a very interesting study of russian/eastern european genetics which includes some runs of homozygosity (roh) data (which can provide clues of inbreeding/close matings among other things): A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe. (dienekes has a really good explanation of roh here.)
in this latest study, khrunin et al. took a look at a handful of different ethnic russian sub-populations (from different locations in russia) as well as some other eastern european groups. most of the samples from russia they collected themselves — the rest came from other studies. here’s a list of which groups were included and where they came from:
- russians (n=384) from the archangelsk (mezen district, n = 96), vladimir (murom district, n = 96), kursk (kursk and oktyabrsky districts, n = 96), and tver (andreapol district, n = 96) regions
- veps (n=81) from the babaevo district of the vologodsky region
- komi (n=150) from the izhemski (izhemski komi, n = 79) and priluzski (priluzski komi, n = 71) districts of the komi republic.
all of these samples were collected by the authors — except for those from tver — and the researchers ensured that the subjects AND their parents were originally from whatever region in which they happened to find them (i like that!).
the data from other studies which they used are described in this paper and include:
- finns – samples from helsinki (n = 100) and kuusamo (n = 84) – kuusamo is really remote
- estonians (n = 100) – samples collected across the entire country
- latvians (n = 95) – samples collected in riga – parents had to be latvians
- poles (n = 48) – from the west-pomeranian region, so just on the border with germany
- czechs (n = 94) – from prague, moravia, and silesia
- germans (n = 100) – from schleswig-holstein in the north and the augsburg region in the south
- italians (n = 88) from tuscany – hapmap
- russians (n = 25) from the human genome diversity panel (hgdp) – i believe from the vologda oblast.
the data collected by khrunin et al. are really good, imho, since 1) they went to all the trouble of collecting samples from different regions of russia, and 2) the researchers tried to control for ethnic/regional origin. the quality of the data from all the other studies is kinda mixed, for my interests anyway. for instance, taking in samples in large, capital cities — meh — not so great. the residents of those cities could’ve come from all over the country. the northern versus southern sampling in germany is better; unfortunately, those data sets were combined together in this study (they’re kept separate in another really cool study which i will post about soon!). the estonian data set is interesting because the samples came from across the country. otoh, the polish data set is also interesting because it’s from such a specific region (and right on the border with germany).
ok. one last thing before i show you the results (i made a map!). different researchers define roh differently (*sigh*) — while there do seem to be some standards, there’s also quite a bit of variation, and different researchers choose to look for roh of varying lengths. in this study, the researchers looked for roh that were 1.5Mb in length (i’ve seen other researchers look for 1Mb in length). 1.5Mb is pretty short as far as roh go. if you recall, when a population has a lot of longer roh (like 4-8Mb or more), that’s a pretty good indicator of inbreeding. 1.5Mb — not so much. lots of short roh are a better indicator of something like a population bottleneck in the distant-ish past. but, what’s a girl to do? gotta work with what’s available, and if it’s short roh, so be it.
here (finally!) is the map. i took the data from this table. the map (first column of data) is of the average number of roh (of 1.5Mb) found in individuals in the different populations (nROH):
the most obvious thing to note is that the small, endogamous groups (the veps and the komi) have more roh than any of the other populations, except for the finns up in kuusamo (and i think that that’s probably due to a bottleneck — ethnic finns really only migrated to, and began to settle in, the area seriously in the 1600s, and i imagine it wasn’t very many of them — and being so far away from anybody else!). the veps and the komi are small populations and, historically, they didn’t marry out much (that’s why we have veps and komi people today), so they are somewhat inbred. definitely more so than the surrounding population.
another curious thing is the pretty high number of rohs in the baltic populations: latvians=0.58, estonians=0.61, and finns in helsinki=1.13. wow! what happened there? that’s something like three to five times the number of roh we see in italians (from tuscany) or germans.
the most interesting point for me, though, is that there is an east-west divide. it’s kinda vague, maybe, but i think it’s there: italians (tuscans) and germans at ca. 0.20, and then the czechs and poles right next door at 0.35 and 0.51 respectively. and everyone to the east, except the russians in kursk, higher again than those two figures. i think these results hint at what i’ve found in the history books on medieval europe, i.e. that western europeans began outbreeding earlier than eastern europeans and as a result wound up being more outbred. (see, for example, here and here — and the “mating patterns in europe series” below ↓ in left-hand column.)
finally, the authors of the study point out how it appears that the average number of roh in individuals in a population increases with latitude — and they mention that this has also been shown elsewhere (i’ll be posting on that paper — very soon!). if you look at the various ethnic russian populations, for instance, the russians down in kursk (Rus_Ku=0.28) and murom (Rus_Mu=0.39) have fewer roh than the russians further to the north in tver (Rus_Tv=0.49) and way up in mezen (Rus_Me=1.63!). however, the hgdp russian samples, apparently from the vologda oblast which is pretty far north, have relatively low numbers of roh (Rus_HGDP=0.44), so that doesn’t seem to fit. still, it does look like a real pattern to me. the authors suggest that this is due to the general pattern of how europe was settled (from the south to the north), as well as the fact that the farther north you go, the fewer people there are to mate with (so the more inbred you wind up being).
as i’ll show in my next post, though, while there does seem to be a north-south pattern to roh frequency in europe with more roh in populations to the north than the south, curiously the numbers seem to increase in southern europe as well (as compared to places in central europe like germany and france) — and strangely in the balkan region as well. i can’t imagine why! (^_^)
(note: comments do not require an email. kuusamo traffic jam!)