MC1RVariation in a New Mexico Population

Abstract

Background:The Melanocortin 1 Receptor (MC1R) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating SNPs in MC1R and association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico (NM) population will elucidate the role of MC1R in a multicultural population.Methods: We genotyped MC1R in 191 NMs 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% of self-identified Hispanics and 12.9% of non-Hispanic whites (NHW), 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%) compared with NHW (48.3%), consistent with melanoma rates, tanning ability, and lower perceived risk. Hispanics had a perceived risk significantly lower than NHW and a nonsignificant better tanning ability than NHW.Conclusions: The R163Q variant in MC1R may not be a risk factor for melanoma among NM Hispanics. This suggestion points to the need to carefully interpret genetic risk factors among specific populations.Impact: Genetic risk cannot be extrapolated from Northern European populations directly to non-European populations.

Behavioral and Psychological Outcomes Associated with Skin Cancer Genetic Testing in Albuquerque Primary Care

“…At the same time, the availability of genetic information to the general public has increased dramatically in recent years [3], so exploring the public reaction to such information is needed across diverse populations who have the potential to benefit from it [4]. A large proportion of individuals of European ancestry, including New Mexico Hispanics, carry at least one MC1R gene variant that confers increased melanoma risk [26][27][28], although recent evidence found that the risk conferred by such variants may differ by specific Hispanic populations [70]. Nonetheless, the inheritance of specific MC1R variants may be a robust marker of increased risk of melanoma and keratinocyte skin cancers [26,[29][30][31].…”

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population

“…Some studies have reported on the prevalence of some MC1R risk variants in Hispanic and Latinx sub-groups such as Mexican-American, Uruguayan and Brazilian, but most have either focused on populations at elevated risk of melanoma due to personal/family disease history 33,34 or they were conducted in the context of other diseases, such as depression 35,36 . One recent study set in New Mexico reported carriage of a medium or high risk MC1R variant in 63% of enrolled Hispanics 37 . Some studies have examined associations between MC1R variation and genetic ancestry 38,39 , but there appears to be limited research that also incorporates pigmentation characteristics in Hispanic populations.…”

Skin pigmentation and its control: From ultraviolet radiation to stem cells

“…55 White et al recently documented that Hispanics in New Mexico have high rates of R163Q variants (47.6%) but this does not lead to an increase in melanoma. 56 MC1R variants appear to have a synergistic effect when occurring in patients with the high-risk CDKN2A mutations. 57 In this setting, it doubles the risk for melanoma, resulting in a younger age of presentation, and is exacerbated by more than one MC1R variant.…”

“…In a genome‐wide association study, MC1R variants more strongly contributed to melanoma in darker‐skinned Europeans than lighter‐skinned Europeans 55 . White et al recently documented that Hispanics in New Mexico have high rates of R163Q variants (47.6%) but this does not lead to an increase in melanoma 56 …”