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Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation.

Authors :
Mishra A
Nizammuddin S
Mallick CB
Singh S
Prakash S
Siddiqui NA
Rai N
Carlus SJ
Sudhakar DVS
Tripathi VP
Möls M
Kim-Howard X
Dewangan H
Mishra A
Reddy AG
Roy B
Pandey K
Chaubey G
Das P
Nath SK
Singh L
Thangaraj K
Source :
The Journal of investigative dermatology [J Invest Dermatol] 2017 Mar; Vol. 137 (3), pp. 670-677. Date of Electronic Publication: 2016 Nov 17.
Publication Year :
2017

Abstract

Our understanding of the genetics of skin pigmentation has been largely skewed towards populations of European ancestry, imparting less attention to South Asian populations, who behold huge pigmentation diversity. Here, we investigate skin pigmentation variation in a cohort of 1,167 individuals in the Middle Gangetic Plain of the Indian subcontinent. Our data confirm the association of rs1426654 with skin pigmentation among South Asians, consistent with previous studies, and also show association for rs2470102 single nucleotide polymorphism. Our haplotype analyses further help us delineate the haplotype distribution across social categories and skin color. Taken together, our findings suggest that the social structure defined by the caste system in India has a profound influence on the skin pigmentation patterns of the subcontinent. In particular, social category and associated single nucleotide polymorphisms explain about 32% and 6.4%, respectively, of the total phenotypic variance. Phylogeography of the associated single nucleotide polymorphisms studied across 52 diverse populations of the Indian subcontinent shows wide presence of the derived alleles, although their frequencies vary across populations. Our results show that both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians.<br /> (Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1523-1747
Volume :
137
Issue :
3
Database :
MEDLINE
Journal :
The Journal of investigative dermatology
Publication Type :
Academic Journal
Accession number :
27866970
Full Text :
https://doi.org/10.1016/j.jid.2016.10.043