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Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Eur J Hum Genet 2005; 13(8):913-20EJ

Abstract

The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locus could influence susceptibility to malignant melanoma (MM). In all, 10 intragenic single-nucleotide polymorphisms (SNPs) were genotyped in 113 patients with melanomas and in 105 Caucasian control subjects with no personal or family history of skin cancer. By comparing allelic distribution between cases and controls, we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). Then, a recently developed strategy, the 'combination test' enabled us to show that a combination formed by two SNPs was most strongly associated to MM, suggesting a possible interaction between intragenic SNPs. In addition, the role of OCA2 on MM risk was also detected using a logistic model taking into account the presence of variants of the melanocortin 1 receptor gene (MC1R, a key pigmentation gene) and all pigmentation characteristics as melanoma risk factors. Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma.

Authors+Show Affiliations

Unite INSERM 535 'Génétique Epidémiologique et Structure des Populations Humaines', Hôpital Paul Brousse, Villejuif, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

15889046

Citation

Jannot, Anne-Sophie, et al. "Allele Variations in the OCA2 Gene (pink-eyed-dilution Locus) Are Associated With Genetic Susceptibility to Melanoma." European Journal of Human Genetics : EJHG, vol. 13, no. 8, 2005, pp. 913-20.
Jannot AS, Meziani R, Bertrand G, et al. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet. 2005;13(8):913-20.
Jannot, A. S., Meziani, R., Bertrand, G., Gérard, B., Descamps, V., Archimbaud, A., ... Melan-Cohort, . (2005). Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. European Journal of Human Genetics : EJHG, 13(8), pp. 913-20.
Jannot AS, et al. Allele Variations in the OCA2 Gene (pink-eyed-dilution Locus) Are Associated With Genetic Susceptibility to Melanoma. Eur J Hum Genet. 2005;13(8):913-20. PubMed PMID: 15889046.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. AU - Jannot,Anne-Sophie, AU - Meziani,Roubila, AU - Bertrand,Guylene, AU - Gérard,Benedicte, AU - Descamps,Vincent, AU - Archimbaud,Alain, AU - Picard,Catherine, AU - Ollivaud,Laurence, AU - Basset-Seguin,Nicole, AU - Kerob,Delphine, AU - Lanternier,Guy, AU - Lebbe,Celeste, AU - Saiag,P, AU - Crickx,Beatrice, AU - Clerget-Darpoux,Françoise, AU - Grandchamp,Bernard, AU - Soufir,Nadem, AU - Melan-Cohort,, PY - 2005/5/13/pubmed PY - 2005/12/13/medline PY - 2005/5/13/entrez SP - 913 EP - 20 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 13 IS - 8 N2 - The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locus could influence susceptibility to malignant melanoma (MM). In all, 10 intragenic single-nucleotide polymorphisms (SNPs) were genotyped in 113 patients with melanomas and in 105 Caucasian control subjects with no personal or family history of skin cancer. By comparing allelic distribution between cases and controls, we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). Then, a recently developed strategy, the 'combination test' enabled us to show that a combination formed by two SNPs was most strongly associated to MM, suggesting a possible interaction between intragenic SNPs. In addition, the role of OCA2 on MM risk was also detected using a logistic model taking into account the presence of variants of the melanocortin 1 receptor gene (MC1R, a key pigmentation gene) and all pigmentation characteristics as melanoma risk factors. Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/15889046/Allele_variations_in_the_OCA2_gene__pink_eyed_dilution_locus__are_associated_with_genetic_susceptibility_to_melanoma_ L2 - http://dx.doi.org/10.1038/sj.ejhg.5201415 DB - PRIME DP - Unbound Medicine ER -