Document Detail


Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.
MedLine Citation:
PMID:  23052946     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Natural variation in human skin pigmentation is primarily due to genetic causes rooted in recent evolutionary history. Genetic variants associated with human skin pigmentation confer risk of skin cancer and may provide useful information in forensic investigations. Almost all previous gene-mapping studies of human skin pigmentation were based on categorical skin color information known to oversimplify the continuous nature of human skin coloration. We digitally quantified skin color into hue and saturation dimensions for 5,860 Dutch Europeans based on high-resolution skin photographs. We then tested an extensive list of 14,185 single nucleotide polymorphisms in 281 candidate genes potentially involved in human skin pigmentation for association with quantitative skin color phenotypes. Confirmatory association was revealed for several known skin color genes including HERC2, MC1R, IRF4, TYR, OCA2, and ASIP. We identified two new skin color genes: genetic variants in UGT1A were significantly associated with hue and variants in BNC2 were significantly associated with saturation. Overall, digital quantification of human skin color allowed detecting new skin color genes. The variants identified in this study may also contribute to the risk of skin cancer. Our findings are also important for predicting skin color in forensic investigations.
Authors:
Leonie C Jacobs; Andreas Wollstein; Oscar Lao; Albert Hofman; Caroline C Klaver; André G Uitterlinden; Tamar Nijsten; Manfred Kayser; Fan Liu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-10-11
Journal Detail:
Title:  Human genetics     Volume:  132     ISSN:  1432-1203     ISO Abbreviation:  Hum. Genet.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-14     Completed Date:  2013-03-11     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  147-58     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aged
DNA-Binding Proteins / genetics*
European Continental Ancestry Group / genetics*
Female
Genetic Association Studies*
Glucuronosyltransferase / genetics*
Humans
Male
Phenotype
Polymorphism, Single Nucleotide
Skin Pigmentation / genetics*
Chemical
Reg. No./Substance:
0/BNC2 protein, human; 0/DNA-Binding Proteins; EC 2.4.1.-/UGT1A1 enzyme; EC 2.4.1.17/Glucuronosyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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