Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India

South Asians exhibit extensive variation in skin melanin index (MI) which is observed across the broader region of South Asia as well as within restricted geographic regions. However, the genetic variants associated with variation in the skin pigmentation phenotype are poorly understood in these populations. The present study examines the association between MI measures and genetic variants from 5 candidate pigmentation genes among 533 individuals representing 6 populations of West Maharashtra.

[1]  S. Ozarkar,et al.  Skin pigmentation variation among populations of West Maharashtra, India , 2016, American journal of human biology : the official journal of the Human Biology Council.

[2]  Nicholas G. Martin,et al.  Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up , 2015, Human Genetics.

[3]  Chris Phillips,et al.  Development of a forensic skin colour predictive test. , 2014, Forensic science international. Genetics.

[4]  Mark I. McCarthy,et al.  The South Asian Genome , 2014, PloS one.

[5]  M. Kayser,et al.  The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. , 2014, Forensic science international. Genetics.

[6]  C. Basu Mallick,et al.  The Light Skin Allele of SLC24A5 in South Asians and Europeans Shares Identity by Descent , 2013, PLoS genetics.

[7]  Bonnie Berger,et al.  Genetic evidence for recent population mixture in India. , 2013, American journal of human genetics.

[8]  Jeffrey E. Lee,et al.  Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. , 2013, Human molecular genetics.

[9]  E. Parra,et al.  Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry , 2013, BMC Evolutionary Biology.

[10]  A. Sharma,et al.  Polymorphisms of four pigmentation genes (SLC45A2, SLC24A5, MC1R and TYRP1) among eleven endogamous populations of India , 2013, Journal of Genetics.

[11]  E. Parra,et al.  The Admixture Structure and Genetic Variation of the Archipelago of Cape Verde and Its Implications for Admixture Mapping Studies , 2012, PloS one.

[12]  T. Spector,et al.  First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip , 2012, International Journal of Legal Medicine.

[13]  D. Absher,et al.  Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations , 2012, PloS one.

[14]  K. Aoki,et al.  Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese , 2012, Journal of Human Genetics.

[15]  Usha Chakravarthy,et al.  DNA-based eye colour prediction across Europe with the IrisPlex system. , 2012, Forensic science international. Genetics.

[16]  Titia Sijen,et al.  Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence. , 2011, Forensic science international. Genetics.

[17]  Mechthild Prinz,et al.  Prediction of eye and skin color in diverse populations using seven SNPs. , 2011, Forensic science international. Genetics.

[18]  Manfred Kayser,et al.  IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. , 2011, Forensic science international. Genetics.

[19]  Manfred Kayser,et al.  Improving human forensics through advances in genetics, genomics and molecular biology , 2011, Nature Reviews Genetics.

[20]  N. Jablonski,et al.  Human skin pigmentation as an adaptation to UV radiation , 2010, Proceedings of the National Academy of Sciences.

[21]  Nicholas G. Martin,et al.  Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci , 2010, PLoS genetics.

[22]  E. Parra,et al.  Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation , 2010, PLoS genetics.

[23]  I. Yuasa,et al.  A Decreasing Gradient of 374F Allele Frequencies in the Skin Pigmentation Gene SLC45A2, from the North of West Europe to North Africa , 2010, Biochemical Genetics.

[24]  Alkes L. Price,et al.  Reconstructing Indian Population History , 2009, Nature.

[25]  Peter M Schneider,et al.  DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. , 2009, Forensic science international. Genetics.

[26]  Snæbjörn Pálsson,et al.  Two newly identified genetic determinants of pigmentation in Europeans , 2008, Nature Genetics.

[27]  D. Hunter,et al.  Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians , 2009, International journal of cancer.

[28]  F. Hu,et al.  A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation , 2008, PLoS genetics.

[29]  Alex A. Pollen,et al.  cis-Regulatory Changes in Kit Ligand Expression and Parallel Evolution of Pigmentation in Sticklebacks and Humans , 2007, Cell.

[30]  D. Cox,et al.  A genomewide association study of skin pigmentation in a South Asian population. , 2007, American journal of human genetics.

[31]  Snæbjörn Pálsson,et al.  Genetic determinants of hair, eye and skin pigmentation in Europeans , 2007, Nature Genetics.

[32]  R. Kittles,et al.  Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. , 2006, Molecular biology and evolution.

[33]  Keith C. Cheng,et al.  SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans , 2005, Science.

[34]  Mark D. Shriver,et al.  The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans , 2005, Human Genetics.

[35]  P. Kanetsky,et al.  Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism. , 2004, Pigment cell research.

[36]  W. Oetting,et al.  Oculocutaneous albinism type 1: the last 100 years. , 2003, Pigment cell research.

[37]  M. Olivier A haplotype map of the human genome. , 2003, Nature.

[38]  M. Olivier A haplotype map of the human genome , 2003, Nature.

[39]  Li Jin,et al.  Skin pigmentation, biogeographical ancestry and admixture mapping , 2003, Human Genetics.

[40]  Robin Holmes,et al.  A polymorphism in the agouti signaling protein gene is associated with human pigmentation. , 2002, American journal of human genetics.

[41]  M. Xiong,et al.  Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population , 2001, Human Genetics.

[42]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[43]  N. Jablonski,et al.  The evolution of human skin coloration. , 2000, Journal of human evolution.

[44]  J. Relethford Hemispheric difference in human skin color. , 1998, American journal of physical anthropology.

[45]  Ian Jackson,et al.  Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans , 1995, Nature Genetics.

[46]  Manfred Kayser,et al.  The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. , 2013, Forensic science international. Genetics.

[47]  Mark D Shriver,et al.  The timing of pigmentation lightening in Europeans. , 2013, Molecular biology and evolution.

[48]  I. M. G. Consortium,et al.  Genetic landscape of the people of India: a canvas for disease gene exploration , 2008 .

[49]  T. Ishida,et al.  Evidence for recent positive selection at the human AIM1 locus in a European population. , 2006, Molecular biology and evolution.