Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

Duffy, David L., Zhao, Zhen Z., Sturm, Richard A., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2010) Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Journal of Investigative Dermatology, 130 2: 520-528. doi:10.1038/jid.2009.258

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Author Duffy, David L.
Zhao, Zhen Z.
Sturm, Richard A.
Hayward, Nicholas K.
Martin, Nicholas G.
Montgomery, Grant W.
Title Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
Journal name Journal of Investigative Dermatology   Check publisher's open access policy
ISSN 0022-202X
Publication date 2010-02
Year available 2009
Sub-type Article (original research)
DOI 10.1038/jid.2009.258
Volume 130
Issue 2
Start page 520
End page 528
Total pages 9
Editor Paul Bergstresser
Place of publication London , U. K.
Publisher Nature Publishing Group
Collection year 2010
Language eng
Subject C1
920102 Cancer and Related Disorders
920117 Skin and Related Disorders
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
060103 Cell Development, Proliferation and Death
Abstract We have previously described the role of red hair (melanocortin-1 receptor, MC1R) and blue eye (oculocutaneous albinism type II, OCA2) gene polymorphisms in modulating the risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population of European descent. A number of recent studies, including genome-wide association studies, have identified numerous polymorphisms controlling human hair, eye, and skin color. In this paper, we test a selected set of polymorphisms in pigmentation loci (ASIP (Agouti signalling protein, nonagouti homolog (mouse) gene), TYR (tyrosinase), TYRP1 (tyrosinase-related protein 1), MC1R, OCA2, IRF4 (interferon regulatory factor 4), SLC24A4 (solute carrier family 24, member 4), and SLC45A2 (solute carrier family 45, member 2)) for association with CMM risk in a large Australian population-based case–control study. Variants in IRF4 and SLC24A4, despite being strongly associated with pigmentation in our sample, did not modify CMM risk, but the other six did. Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) exhibited the strongest crude association with risk, but this was attenuated to approximately the same effect size as that of a MC1R red hair color allele by controlling for ancestry of cases and controls. We also detected significant epistatic interactions between SLC45A2 and OCA2 alleles, and MC1R and ASIP alleles. Overall, these measured variants account for 12% of the familial risk of CMM in our population.
Keyword Recessive Ocular Albinism
Tyrosinase Gene
Eye Color
Variants
Susceptibility
Association
population
HERC2
Determinants
Queensland
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes published online 27 August 2009

 
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Created: Sun, 07 Feb 2010, 00:04:11 EST