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PMID: 19340012 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

Genome-wide association study of tanning phenotype in a population of European ancestry.

The Journal of investigative dermatology ·Vol. 129 ·No. 9 ·2009-09-00 ·Pages 2250-7

Nan H, Kraft P, Qureshi AA, Guo Q, Chen C, Hankinson SE, Hu FB, Thomas G, Hoover RN, Chanock S, Hunter DJ, Han J

Abstract

We conducted a multistage genome-wide association study (GWAS) of tanning response after exposure to sunlight in over 9,000 men and women of European ancestry who live in the United States. An initial analysis of 528,173 single-nucleotide polymorphisms (SNPs) genotyped on 2,287 women identified LOC401937 (rs966321) on chromosome 1 as a novel locus highly associated with tanning ability, and we confirmed this association in 870 women controls from a skin cancer case-control study with joint P-value=1.6 x 10(-9). We further genotyped this SNP in two subsequent replication studies (one with 3,750 women and the other with 2,405 men). This association was not replicated in either of these two studies. We found that several SNPs reaching the genome-wide significance level are located in or adjacent to the loci previously known as pigmentation genes: MATP, IRF4, TYR, OCA2, and MC1R. Overall, these tanning ability-related loci are similar to the hair color-related loci previously reported in the GWAS of hair color.

MeSH Terms
Chromosome Mapping Genome-Wide Association Study Guanine Nucleotide Exchange Factors/genetics Hair Color Humans Membrane Transport Proteins/genetics Phenotype Polymorphism, Single Nucleotide Receptor, Melanocortin, Type 1/genetics Sunbathing Ubiquitin-Protein Ligases Whites/genetics
Chemicals
Guanine Nucleotide Exchange Factors Membrane Transport Proteins OCA2 protein, human Receptor, Melanocortin, Type 1 HERC2 protein, human Ubiquitin-Protein Ligases
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Nan Hongmei
Channing Laboratory, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. hnan@hsph.harvard.edu
Kraft Peter
Qureshi Abrar A
Guo Qun
Chen Constance
Hankinson Susan E
Hu Frank B
Thomas Gilles
Hoover Robert N
Chanock Stephen
Hunter David J
Han Jiali
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Article Info
Journal
The Journal of investigative dermatology
Abbr.
J Invest Dermatol
ISSN
1523-1747
DOI
10.1038/jid.2009.62
Email
hnan@hsph.harvard.edu
Published
2009-09-00
Epub
2009-00-02
Pages
2250-7
Language
English
Region
United States
NLM ID
0426720
PMCID
PMC2758927
Subset
IM
Grants
NCI NIH HHS · R01 CA122838-01A2 · United States
NCI NIH HHS · R03 CA128080-02 · United States
NCI NIH HHS · R01 CA122838 · United States
NCI NIH HHS · CA128080 · United States
NCI NIH HHS · R03 CA128080 · United States
NCI NIH HHS · CA122838 · United States
External Links
PubMed source DOI: 10.1038/jid.2009.62 PMC Full Text View journal details
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