Abstract
Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have examined skin pigmentation variation among Indigenous American populations, creating a critical gap in our understanding of skin pigmentation variation. This study investigates signatures of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans. Analysis was performed on two samples of Indigenous Americans genotyped on genome-wide SNP arrays. Using four tests for natural selection-locus-specific branch length (LSBL), ratio of heterozygosities (lnRH), Tajima's D difference, and extended haplotype homozygosity (EHH)-we identified 14 selection-nominated candidate genes (SNCGs). SNPs in each of the SNCGs were tested for association with skin pigmentation in 515 admixed Indigenous American and European individuals from regions of the Americas with high ground-level ultraviolet radiation. In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1073-1080 |
| Number of pages | 8 |
| Journal | Human Genetics |
| Volume | 131 |
| Issue number | 7 |
| DOIs | |
| State | Published - Jul 2012 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans. / Quillen, Ellen E.; Bauchet, Marc; Bigham, Abigail W.; Delgado-Burbano, Miguel E.; Faust, Franz X.; Klimentidis, Yann C; Mao, Xianyun; Stoneking, Mark; Shriver, Mark D.
In: Human Genetics, Vol. 131, No. 7, 07.2012, p. 1073-1080.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
AU - Quillen, Ellen E.
AU - Bauchet, Marc
AU - Bigham, Abigail W.
AU - Delgado-Burbano, Miguel E.
AU - Faust, Franz X.
AU - Klimentidis, Yann C
AU - Mao, Xianyun
AU - Stoneking, Mark
AU - Shriver, Mark D.
PY - 2012/7
Y1 - 2012/7
N2 - Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have examined skin pigmentation variation among Indigenous American populations, creating a critical gap in our understanding of skin pigmentation variation. This study investigates signatures of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans. Analysis was performed on two samples of Indigenous Americans genotyped on genome-wide SNP arrays. Using four tests for natural selection-locus-specific branch length (LSBL), ratio of heterozygosities (lnRH), Tajima's D difference, and extended haplotype homozygosity (EHH)-we identified 14 selection-nominated candidate genes (SNCGs). SNPs in each of the SNCGs were tested for association with skin pigmentation in 515 admixed Indigenous American and European individuals from regions of the Americas with high ground-level ultraviolet radiation. In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time.
AB - Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have examined skin pigmentation variation among Indigenous American populations, creating a critical gap in our understanding of skin pigmentation variation. This study investigates signatures of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans. Analysis was performed on two samples of Indigenous Americans genotyped on genome-wide SNP arrays. Using four tests for natural selection-locus-specific branch length (LSBL), ratio of heterozygosities (lnRH), Tajima's D difference, and extended haplotype homozygosity (EHH)-we identified 14 selection-nominated candidate genes (SNCGs). SNPs in each of the SNCGs were tested for association with skin pigmentation in 515 admixed Indigenous American and European individuals from regions of the Americas with high ground-level ultraviolet radiation. In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time.
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U2 - 10.1007/s00439-011-1135-1
DO - 10.1007/s00439-011-1135-1
M3 - Article
VL - 131
SP - 1073
EP - 1080
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 7
ER -