Department of Haematology and Medical Oncology, Fundacion Investigacion Hospital Clinico Universitario-INCLIVA, 46010, Valencia, Spain Department of Dermatology, Ramon y Cajal Hospital, 28034, Madrid, Spain Department of Dermatology, Gregorio Marañon Hospital, 28007, Madrid, Spain Department of Dermatology, La Paz Hospital, 28046, Madrid, Spain.
Br J Dermatol. 2012 Jan 17. doi: 10.1111/j.1365-2133.2012.10831.x.
Glutathione S-transferases (GSTs) GSTM1, GSTT1 and GSTP1 are multifunctional enzymes involved in the detoxification of a wide range of reactive oxygen species produced during melanin synthesis and oxidative stress processes.
Single nucleotide polymorphisms (GSTP1) and copy number variants (GSTM1 and GSTT1) may be candidate low-penetrance variants with a role in susceptibility to malignant melanoma (MM).
In this case-control study, 562 Spanish sporadic melanoma patients and 338 cancer-free control subjects were included, and the role of these GST polymorphisms was investigated. Genotypes were established by quantitative real time-PCR for GSTM1 and GSTT1 while TaqMan probes were used to genotype GSTP1 SNPs.
The GSTP1 polymorphism rs1695, which encodes the amino acid change p.Ile105Val, was individually associated with melanoma (OR: 1.32; 95% CI: 1.06-1.63). Furthermore, individuals carrying one or two MC1R non-synonymous changes and GSTP1 rs1695 rare allele had an increased risk to develop melanoma (OR: 3.34; 95% CI: 1.42-8.09 and OR: 20.42; 95% CI: 2.80-417.42, respectively).
This is the first time that GSTP1 rs1695 polymorphism is reported to be associated to melanoma. In addition, this study is one of the largest GSTs polymorphisms studies undertaken in the Spanish population and the first time that copy number variants have been scrutinized in relation to MM.
Copyright © 2012 British Association of Dermatologists.
PMID: 22251241 [PubMed - as supplied by publisher] Source: National Library of Medicine.
