A Genomewide Association Study of Skin Pigmentation in a South Asian Population Renee P. Stokowski, P.V. Krishna Pant, Tony Dadd, Amelia Fereday, David.

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A Genomewide Association Study of Skin Pigmentation in a South Asian Population Renee P. Stokowski, P.V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, David R. Cox The American Journal of Human Genetics Volume 81, Issue 6, Pages 1119-1132 (December 2007) DOI: 10.1086/522235 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 Histogram of maximum L* values (maxL*) in volunteers of South Asian ancestry. The maxL* values were obtained from 98 randomly selected individuals of South Asian ancestry living in the United Kingdom. The maxL* values for the 20th and 80th percentiles of the distribution are indicated by vertical lines. The American Journal of Human Genetics 2007 81, 1119-1132DOI: (10.1086/522235) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 Histogram of admixture proportions in cohort 1 for the geographical ancestry groups. Admixture proportions were determined for 778 individuals in cohort 1 with use of the structure program for a two-cluster model, with genotypes from 294 GC SNPs. Reported parental and grandparental ancestry was used to group individuals by region into (A) eastern (mainly Bangladesh), (B) southern (mainly Sri Lanka), (C) northwestern (mainly Gujarat and Punjab), or (D) mixed origin. The American Journal of Human Genetics 2007 81, 1119-1132DOI: (10.1086/522235) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 Association signals, linkage disequilibrium, and genes in the region 45,524,265–48,470,992 on chromosome 15q21. Negative log10 association P values (found by logistic regression and likelihood-ratio tests) are displayed for cohorts 1 and 2 and for an analysis conditioned on rs1426654 in cohort 2. The R2 value between each SNP genotyped in the region and the primary associated SNP rs1426654 is also displayed. The SNPs rs1834640 and rs1426654 show the strongest associations in cohort 1 and cohort 2, respectively. Red horizontal lines are drawn at the Bonferroni-corrected significance threshold for the genomewide scan (α=0.05/1,502,205=3.3×10−8) for cohort 1 and 2 associations. In the association analysis conditional on rs1426654, no SNPs met a significance level that would correct for the number of SNPs in the region (α=0.05/407=1.23×10−4). This figure was made using the Generic Genome Browser.47 Chr = chromosome. The American Journal of Human Genetics 2007 81, 1119-1132DOI: (10.1086/522235) Copyright © 2007 The American Society of Human Genetics Terms and Conditions