MC1R Variation in a New Mexico Population

Menée aux Etats-Unis à l'aide du génotypage du récepteur de la mélanocortine MC1R chez 191 personnes, cette étude analyse le risque génétique de mélanome dans la population hispanique

Résumé en anglais

Background : The Melanocortin 1 Receptor (MC1R) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating single nucleotide polymorphisms (SNPs) in MC1R and association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico population will elucidate the role of MC1R in a multi-cultural population.

Methods : We genotyped MC1R in 191 New Mexicans attending a primary care clinic in Albuquerque. We obtained individuals' self-identified race/ethnicity, skin type, and perceived cancer risk. We defined genetic risk as carriage of any one or more of the nine most common SNPs in MC1R.

Results : We found that one MC1R SNP, R163Q (rs885479), was identified in 47.6 percent of self-identified Hispanics and 12.9 percent of non-Hispanic whites, making Hispanics at higher "genetic risk" (as defined by carrying one of the MC1R common variants). When we deleted R163Q from analyses, Hispanics were no longer at higher genetic risk (33.3 percent) compared to NHW (48.3 percent), consistent with melanoma rates, tanning ability and lower perceived risk. Hispanics had a perceived risk significantly lower than non-Hispanic whites (NHW) and a non-significant better tanning ability than NHW.

Conclusions : The R163Q variant in MC1R may not be a risk factor for melanoma among New Mexican Hispanics. This suggestion points to the need to carefully interpret genetic risk factors among specific populations.

Impact : This study may modify the way melanoma risk is calculated for Hispanics.