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Five loci associated with increased susceptibility for cutaneous melanoma

Chatzinasiou F. J Natl Cancer Inst. 2011;doi:10.1093/jnci/djr219.

Issue: July 25, 2011

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Results from a systemic review of 145 genetic association studies, including data from genome-wide association studies, published on cutaneous melanoma, researchers determined that five gene variants are statistically significantly associated with melanoma at the genome-wide level.

Starting with 745 variants, researchers at the University of Athens in Greece conducted a meta-analysis on 42 polymorphisms across 18 independent loci. Nineteen polymorphisms in eight loci had “nominally statistically significant associations” with cutaneous melanoma.

Researchers then calculated a median summary OR (1.25) based on the best result per gene, defined according to the single nucleotide polymorphism with the best Venice score and then according to P score, to account for the effect of loci with multiple-associated SNPs. They concluded that there were four loci with genome-wide statistical significance: MC1R (rs1805007, rs1805008 and rs1805009), MYH7B/PIGU (rs1885120 and rs910873), TYR (rs1126809 and rs1393350) and SLC45A2 (rs16891982).

Using Venice interim criteria, researchers determined the variant with the best graded result per genetic locus. Five loci (SLC45A2, TYRP1, TYR, MC1R and MIYH7B) had strong epidemiological credibility for at least one SNP. Three others — CDKN2A, VDR and CLPTM1L — had only weak credibility.

In a supplementary meta-analysis of data from genome-wide association studies (GWAS) and GWAS-replication studies, four variants (rs10757257, rs2218220, rs1335510, and rs7023329) in the CDKN2A/MTAP locus showed a statistically significant genome-wide association with melanoma and had an overall strong epidemiological credibility.

“Thus, assuming one single underlying association signal in this region, the CDKN2A/MTAP locus has strong cumulative evidence for association with cutaneous melanoma as well,” researchers wrote.

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