TY - JOUR
T1 - MC1R variant alleles and malignant melanoma risk in Israel
AU - Galore-Haskel, Gilli
AU - Azizi, Esther
AU - Mohamdi, Hamida
AU - Scope, Alon
AU - Chaudru, Valérie
AU - Laitman, Yael
AU - Barak, Frida
AU - Pavlotsky, Felix
AU - Demenais, Florence
AU - Friedman, Eitan
N1 - Funding Information:
This work was partly supported by INSERM, University of Evry, Ligue Contre le Cancer (Ligue Nationale PRE2005.LNCC/FD1) and a European Commission Grant (FP6/GenoMEL – LSHC-CT-2006-018702) and by a Research Grant from the Zacks Family and Research Grant No. c-20070050 from the Israel Cancer Association.
PY - 2009/7
Y1 - 2009/7
N2 - 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.
AB - 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.
KW - Ashkenazi Jews
KW - MC1R
KW - Malignant melanoma risk
KW - Sequence variants
UR - http://www.scopus.com/inward/record.url?scp=67649365613&partnerID=8YFLogxK
U2 - 10.1016/j.ejca.2009.02.001
DO - 10.1016/j.ejca.2009.02.001
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AN - SCOPUS:67649365613
SN - 0959-8049
VL - 45
SP - 2015
EP - 2022
JO - European Journal of Cancer
JF - European Journal of Cancer
IS - 11
ER -
