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Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
Ann Hum Genet 2009; 73(2):160-70AH

Abstract

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene-gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.

Authors+Show Affiliations

Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland. wbranicki@ies.krakow.plNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19208107

Citation

Branicki, Wojciech, et al. "Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype." Annals of Human Genetics, vol. 73, no. 2, 2009, pp. 160-70.
Branicki W, Brudnik U, Wojas-Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet. 2009;73(2):160-70.
Branicki, W., Brudnik, U., & Wojas-Pelc, A. (2009). Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Annals of Human Genetics, 73(2), pp. 160-70. doi:10.1111/j.1469-1809.2009.00504.x.
Branicki W, Brudnik U, Wojas-Pelc A. Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype. Ann Hum Genet. 2009;73(2):160-70. PubMed PMID: 19208107.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. AU - Branicki,Wojciech, AU - Brudnik,Urszula, AU - Wojas-Pelc,Anna, Y1 - 2009/02/04/ PY - 2009/2/12/entrez PY - 2009/2/12/pubmed PY - 2009/3/19/medline SP - 160 EP - 70 JF - Annals of human genetics JO - Ann. Hum. Genet. VL - 73 IS - 2 N2 - Human pigmentation is a polygenic trait which may be shaped by different kinds of gene-gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample. SN - 1469-1809 UR - https://www.unboundmedicine.com/medline/citation/19208107/Interactions_between_HERC2_OCA2_and_MC1R_may_influence_human_pigmentation_phenotype_ L2 - https://doi.org/10.1111/j.1469-1809.2009.00504.x DB - PRIME DP - Unbound Medicine ER -