Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population

Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population

In this study, we investigated whether variants in three key pigmentation genes--MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied. A total of 10 polymorphis...

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Veröffentlicht in:Human mutation 2008-09, Vol.29 (9), p.1154-1160
Hauptverfasser: Guedj, Mickaël, Bourillon, Agnès, Combadières, Christophe, Rodero, Mathieu, Dieudé, Philippe, Descamps, Vincent, Dupin, Nicolas, Wolkenstein, Pierre, Aegerter, Philippe, Lebbe, Céleste, Basset-Seguin, Nicole, Prum, Bernard, Saiag, Philippe, Grandchamp, Bernard, Soufir, Nadem
Format: Artikel
Sprache:eng
Schlagworte:
Antigens, Neoplasm - genetics
cancer
Case-Control Studies
France - epidemiology
Genetic Predisposition to Disease
Genotype
Humans
Life Sciences
MC1R
melanoma
Melanoma - genetics
Membrane Transport Proteins - genetics
Odds Ratio
pigmentation
Polymorphism, Genetic
Receptor, Melanocortin, Type 1 - genetics
Skin Pigmentation - genetics
SLC45A2
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Zusammenfassung:In this study, we investigated whether variants in three key pigmentation genes--MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied. A total of 10 polymorphisms, including five functional MC1R alleles (p.Asp84Glu, p.Arg142His, p.Arg151Cys, p.Arg160Trp, and p.Asp294His), two nonsynonymous SLC45A2 variants (p.Phe374Leu and p.Glu272Lys), and three intronic OCA2 variants previously shown to be strongly associated with eye color (rs7495174 T>C, rs4778241 G>T, and rs4778138 T>C) were genotyped. As expected, MC1R variants were closely associated with melanoma risk (P value
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.20823