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

Mukherjee, Meeta; Mukerjee, Sanjukta; Sarkar-Roy, Neeta; Ghosh, Tania; Kalpana, Duraisamy; Sharma, Anil Kumar

doi:10.1007/s12041-013-0225-3

Cited by 12 publications

(14 citation statements)

References 13 publications

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“…One of these six regions is the region on chromosome 15 between 45.7 Mb and 46.2 Mb, which encapsulated four genes including the solute carrier family 24 member 5 ( SLC24A5 ) gene that has been associated with skin pigmentation [20] (Figure 4). This region was found to exhibit regional differences in allele frequencies at the top 0.1% of the genome-wide distribution, along with XP-EHH signals found at the extreme 0.1th percentile, where the direction of the XP-EHH region corresponded with evidence of positive selection in GIH relative to INS.…”

Section: Resultsmentioning

confidence: 99%

Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India

et al. 2014

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BackgroundIndia is home to many ethnically and linguistically diverse populations. It is hypothesized that history of invasions by people from Persia and Central Asia, who are referred as Aryans in Hindu Holy Scriptures, had a defining role in shaping the Indian population canvas. A shift in spoken languages from Dravidian languages to Indo-European languages around 1500 B.C. is central to the Aryan Invasion Theory. Here we investigate the genetic differences between two sub-populations of India consisting of: (1) The Indo-European language speaking Gujarati Indians with genome-wide data from the International HapMap Project; and (2) the Dravidian language speaking Tamil Indians with genome-wide data from the Singapore Genome Variation Project.ResultsWe implemented three population genetics measures to identify genomic regions that are significantly differentiated between the two Indian populations originating from the north and south of India. These measures singled out genomic regions with: (i) SNPs exhibiting significant variation in allele frequencies in the two Indian populations; and (ii) differential signals of positive natural selection as quantified by the integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH). One of the regions that emerged spans the SLC24A5 gene that has been functionally shown to affect skin pigmentation, with a higher degree of genetic sharing between Gujarati Indians and Europeans.ConclusionsOur finding points to a gene-flow from Europe to north India that provides an explanation for the lighter skin tones present in North Indians in comparison to South Indians.

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Section: Resultsmentioning

confidence: 99%

Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India

et al. 2014

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“…From a dermatological or medicinal viewpoint, such cultural mosaic comprises both a western approach and traditional medicine (Ayurveda). The variety of Indian skin types has been established and recently confirmed by clinical and colorimetric assessments of facial skin and pigmented disorders of 1204 women, differently aged, living in four different cities (Chennai, Delhi, Kolkata and Mumbai). Additional to these assessments, various instrumental measurements (skin colour and its unevenness, elastic properties, sebum production, density of facial skin pores and microrelief roughness) were performed.…”

Section: Introductionmentioning

confidence: 93%

In vivo evaluation of some biophysical parameters of the facial skin of Indian women. Part I: variability with age and geographical locations

Colomb

Flament

Wagle

et al. 2017

Intern J of Cosmetic Sci

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BACKGROUND: India is a large country (a subcontinent) of about 3.3 million km 2 that covers large ranges in latitude and longitude. The last Indian census counted about 1.21 billion of inhabitants of many origins, creating a vast human diversity and skin types, the variability of which having been previously established. The present study aimed at deepening this knowledge through a set of biophysical measurements to describe, along the skin ageing process, the specificities of various Indian subjects living in different geographical locations. METHODS: A total of 1204 women, aged 18-84 years, of all socio-economic status, were recruited in four Indian cities (Mumbai, Kolkata, Chennai and Delhi). Measurements of face skin colour properties, elastic properties, sebum production, skin pores and microrelief roughness were performed. RESULTS: With regard skin colour, this study indicates, with age, a darkening of very low amplitude that leads to an increased skin colour heterogeneity. In all subjects, at all ages, the ocular region (dark circles) presents a much darker pigmentation than the cheeks, creating a contrast that appears constant at all ages. In addition to an increased skin colour heterogeneity, a progressive alteration of the skin surface relief, increased sizes of skin pores, a loss of skin elasticity and a drop in sebum production, post-menopause, are observed. CONCLUSIONS: This study confirms, in Indian women, some skin ageing measurements found on women from other ethnic groups (i.e. sebum, firmness, wrinkles and pores size) and also identifies some Indian specificities: a high and constant contrast between the ocular region and the cheek colour, associated to a very slow darkening effect along the lifespan.

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“…Phenotypically, South Asian populations exhibit extensive variation in skin pigmentation. This variation exists not only within populations, but also between caste and tribes, linguistic groups, and geographic regions, indicating that this variation does not clearly follow the latitudinal clines seen elsewhere (Basu Mallick et al, ; Jonnalagadda et al, ; Mukherjee et al, ). Although large scale genome wide association studies (GWAS) on populations of South Asian ancestry (Stokowski et al, ), whole genome sequencing (Chambers et al, ), and other candidate pigmentation gene mapping studies (Basu Mallick et al, ; Mukherjee et al, ) have identified loci such as rs1426654‐ SLC24A5 , rs1042602‐ TYR , and rs16891982‐ SLC24A2 to be involved in South Asian skin pigmentation variation, a clear picture of phenotypic and associated genotypic variation at the local and regional levels still remains elusive.…”

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confidence: 92%

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

Jonnalagadda

Norton

Ozarkar

et al. 2016

American J Hum Biol

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Only rs1426654 is significantly associated with MI in each individual population; however, rs1426654, rs1042602, and rs16891982 are significantly associated with pigmentation in the broader West Maharashtra region after controlling for population and social group, with rs1426654 (SLC24A5) explaining the majority of the observed variation. Am. J. Hum. Biol. 28:610-618, 2016. © 2016 Wiley Periodicals, Inc.

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

Cited by 12 publications

References 13 publications

Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India

Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India

In vivo evaluation of some biophysical parameters of the facial skin of Indian women. Part I: variability with age and geographical locations

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

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