Polymorphisms of four pigmentation genes (SLC45A2, SLC24A5, MC1R and TYRP1) among eleven endogamous populations of India

In humans, there is a wide range of skin pigmentation, within populations and among different populations. In the recent past, studies on skin colour genetics have reported more than a hundred genes actively involved in pigmentation pathway (Bennett and Lamoreux 2003). The genetic variants of pigmentation-related genes have been studied largely among intercontinental populations. Despite a landscape of biological and cultural diversity, Indian populations have been relatively poorly investigated for pigmentation gene polymorphisms. As a group, Indian population shows a wide range of skin pigmentation variation and, to a smaller extent, variation in hair and eye pigmentation. This preliminary study generates new allelic data for five single-nucleotide polymorphisms (SNPs) located in four pigmentation-related genes SLC45A2, SLC24A5, MC1R and TYRP1 among 749 individuals from different populations (five caste and six tribal) of India, belonging to four major linguistic groups: Indo-European (IE), Dravidian (DR), Austro-Asiatic (AA) and Tibeto-Burman (TB), dispersed among six geographical locations.