title: MC1R variant alleles and malignant melanoma risk in Israel.
abstract: To evaluate the contribution of MC1R variants to malignant melanoma risk in Israeli Jews, sequencing of the MC1R gene was performed in 132 melanoma patients and 184 ethnically matched controls. Overall, 22 MC1R variants were detected, two were novel (M73I and 496_497insG). Using age and sex-adjusted logistic regression, one specific variant, R151C, conferred significantly increased melanoma risk among Ashkenazim (OR=2.6, 95% CI: 1.3-5.3; p=0.05 after Bonferroni correction). A gene dosage effect was noted, with significantly increased melanoma risk being observed in subjects with at least two variants whether when all variants are pooled (OR=4.8, 95% CI: 2.0-11.2; p=0.002 after Bonferroni correction) or when red hair colour (RHC) variants and non-RHC variants are distinguished (OR=7.6, 95% CI: 2.8-20.3; p=0.0004 after Bonferroni correction). If further studies support these findings, the assessment of MC1R status may be useful in identifying Jewish Israeli individuals at high risk for melanoma.
authors.affiliation: The Susanne Levy Gertner Oncogenetic Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.
authors.forename: Gilli
authors.initials: G
authors.lastname: Galore-Haskel
authors.forename: Esther
authors.initials: E
authors.lastname: Azizi
authors.forename: Hamida
authors.initials: H
authors.lastname: Mohamdi
authors.forename: Alon
authors.initials: A
authors.lastname: Scope
authors.forename: Valérie
authors.initials: V
authors.lastname: Chaudru
authors.forename: Yael
authors.initials: Y
authors.lastname: Laitman
authors.forename: Frida
authors.initials: F
authors.lastname: Barak
authors.forename: Felix
authors.initials: F
authors.lastname: Pavlotsky
authors.forename: Florence
authors.initials: F
authors.lastname: Demenais
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D008545:Melanoma / Q000208:ethnology / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012306:Risk
chemical_list: D044102:Receptor, Melanocortin, Type 1