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@ARTICLE{ArrietaBolaos:275355,
author = {E. Arrieta-Bolaños$^*$ and D. I. Hernández-Zaragoza and
R. Barquera},
title = {{A}n {HLA} map of the world: {A} comparison of {HLA}
frequencies in 200 worldwide populations reveals diverse
patterns for class {I} and class {II}.},
journal = {Frontiers in genetics},
volume = {14},
issn = {1664-8021},
address = {Lausanne},
publisher = {Frontiers Media},
reportid = {DKFZ-2023-00724},
pages = {866407},
year = {2023},
abstract = {HLA frequencies show widespread variation across human
populations. Demographic factors as well as selection are
thought to have shaped HLA variation across continents. In
this study, a worldwide comparison of HLA class I and class
II diversity was carried out. Multidimensional scaling
techniques were applied to 50 HLA-A and HLA-B (class I) as
well as 13 HLA-DRB1 (class II) first-field frequencies in
200 populations from all continents. Our results confirm a
strong effect of geography on the distribution of HLA class
I allele groups, with principal coordinates analysis closely
resembling geographical location of populations, especially
those of Africa-Eurasia. Conversely, class II frequencies
stratify populations along a continuum of differentiation
less clearly correlated to actual geographic location.
Double clustering analysis revealed finer intra-continental
sub-clusters (e.g., Northern and Western Europe vs. South
East Europe, North Africa and Southwest Asia; South and East
Africa vs. West Africa), and HLA allele group patterns
characteristic of these clusters. Ancient (Austronesian
expansion) and more recent (Romani people in Europe)
migrations, as well as extreme differentiation (Taiwan
indigenous peoples, Native Americans), and interregional
gene flow (Sámi, Egyptians) are also reflected by the
results. Barrier analysis comparing DST and geographic
location identified genetic discontinuities caused by
natural barriers or human behavior explaining inter and
intra-continental HLA borders for class I and class II.
Overall, a progressive reduction in HLA diversity from
African to Oceanian and Native American populations is
noted. This analysis of HLA frequencies in a unique set of
worldwide populations confirms previous findings on the
remarkable similarity of class I frequencies to geography,
but also shows a more complex development for class II, with
implications for both human evolutionary studies and
biomedical research.},
keywords = {MHC (Other) / allele frequencies (Other) / anthropology
(Other) / genetic drift (Other) / human leukocyte antigen
(Other) / population differentiation (Other) / population
genetics (Other)},
cin = {ED01},
ddc = {570},
cid = {I:(DE-He78)ED01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37035735},
pmc = {pmc:PMC10076764},
doi = {10.3389/fgene.2023.866407},
url = {https://inrepo02.dkfz.de/record/275355},
}