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A genomewide association study of skin pigmentation in a South Asian population.

ABSTRACT: We have conducted a multistage genomewide association study, using 1,620,742 single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of melanin content in the skin. The associations detected in these three genes, in an additive manner, collectively account for a large fraction of the natural variation of skin pigmentation in a South Asian population. Our study is the first to interrogate polymorphisms across the genome, to find genetic determinants of the natural variation of skin pigmentation within a human population.

SUBMITTER: Stokowski RP

PROVIDER: S-EPMC2276347 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature

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A genomewide association study of skin pigmentation in a South Asian population.

Stokowski Renee P RP Pant P V Krishna PV Dadd Tony T Fereday Amelia A Hinds David A DA Jarman Carl C Filsell Wendy W Ginger Rebecca S RS Green Martin R MR van der Ouderaa Frans J FJ Cox David R DR

American journal of human genetics 20071015 6

We have conducted a multistage genomewide association study, using 1,620,742 single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of melanin content in the skin. The associations detected in these three genes, in an additive ma ...[more]

PMID: 17999355

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Project description:IntroductionCoronary artery disease (CAD), the leading cause of mortality worldwide, is characterised by an earlier onset and more severe disease in South Asians as compared to Western populations.MethodsThis is an observational study on 928 individuals who attended three tertiary care centres in Kerala, India from 2014-to 2017. The demographic, anthropometric, behavioural factors and the lipoprotein (Lp(a)) and cholesterol values were compared between the two groups and across disease severity. The Chi-square test was used to compare the categorical variables and independent sample t-test for the continuous variables. Multivariable logistic regression was performed to investigate the association of demographic, clinical and behavioural factors with the disease. Odds ratios are presented with a 95% confidence interval. In individuals below 50 years, two logistic regression models were compared to investigate the improvement in modelling the association of the independent factors and Lp(a) with the occurrence of the disease.ResultsWe included 682 patients in the diseased group and 246 patients treated for non-coronary conditions in the control group. Those in the control group were significantly younger than in the diseased group(p<0.002). Significantly more patients were diabetic, hypertensive, tobacco users and consumers of alcohol in the diseased group. Multivariable logistic regression on data from all age groups showed that age (OR = 2.55, 95% CI 1.51-4.33, p = 0.01), diabetes (OR = 3.71, 95% CI 2.42-5.70, p = 0.01), hypertension (OR = 3.03, 95% CI 2.12-4.34, p = 0.01) and tobacco use (OR = 5.44, 95% CI 3.39-8.75, p = 0.01) are significantly associated with the disease. Lp(a) (OR = 1.22, 95% CI 0.87-1.72) increased the odds of the disease by 22% but was not statistically significant. In individuals below 50 years, Lp(a) significantly increased the likelihood of CAD (OR = 3.52, 95% CI 1.63-7.57, p = 0.01). Those with diabetes were seven times more likely to be diseased (OR = 7.06, 95% CI 2.59-19.21, p = 0.01) and the tobacco users had six times the likelihood of disease occurrence (OR = 6.38, 95% CI 2.62-15.54, p = 0.01). The median Lp(a) values showed a statistically significant increasing trend with the extent/severity of the disease in those below 50 years.ConclusionAge, diabetes, hypertension and tobacco use appear to be associated more with the occurrence of coronary artery disease in adults of all ages. Lipoprotein(a), cholesterol and BMI categories do not seem to be related to disease status in all ages. However, in individuals below 50 years, diabetes, tobacco use and lipoprotein (a) are significantly associated with the occurrence of the disease.

Dataset Information

A genomewide association study of skin pigmentation in a South Asian population.

Publications

A genomewide association study of skin pigmentation in a South Asian population.

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