European Human Genetics Conference 2010
June 12 - 15, 2010
P10.31 - Pigmentation gene MC1R shows strong genetic patterning in Eurasia
MC1R; Eurasia; variation
E. C. Royrvik
, K. K. Nicodemus
, N. Y. Yuldasheva
, S. Wells
, R. M. Ruzibakiev
, W. F. Bodmer
Cancer and Immunogenetics, Department of Clinical Pharmacology, University of Oxford, Oxford, UK, Oxford, United Kingdom,
Division of Cardiovascular and Diabetes Research, Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, United Kingdom,
Institute of Immunology, Academy of Sciences, Tashkent, Uzbekistan,
The Genographic Project, National Geographic Society, Washington, DC, United States.
The population genetics of the Central Asian heartland is of great interest, both in and of itself and because prehistoric populations ancestral to those of Europe and East Asia are thought to have passed through this region. However, Central Asia has not been as extensively studied as the eastern and western parts of the continent. Of particular interest in this geographical context is the
gene due to its importance in skin pigmentation. We present a comprehensive analysis of allele/haplotype frequencies from five functional SNPs (rs1805005, rs2228479, rs1805007, rs1805008, and rs885479) in
throughout Eurasia, including from 12,151 individuals from 141 regional populations, focussing on novel genotype data from 38 Central Asian populations.
We performed analyses of allelic differentiation (F
) and direct statistical tests of allele/haplotype frequency differences using Fisher’s exact test. These revealed several significant differences between populations for all SNPs, and a striking pattern of highly significant differences between even some Central Asian populations (e.g. p=2.38x10
for Iranians from Samarkand and neighbouring Kyrgyz).
Our results confirm divergent trends in eastern and western Eurasia, with strong minor allele frequency gradients, perhaps reflecting selection of different variants in
, such as are seen in other pigmentation genes. Data from the mitochondrial genome and Y chromosome are included to provide a framework for interpretation. Finally, as Central Asia consists of a patchwork of linguistic areas with related language groups frequently being geographically distant from one another, we investigate whether any subordinate genetic patterning is associated with linguistic rather than geographic affiliation.
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