Dataset Information

MC1R Variation 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.

SUBMITTER: White KAM

PROVIDER: S-EPMC6825590 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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<i>MC1R</i> Variation in a New Mexico Population.

White Kirsten A M KAM Dailey Yvonne T YT Guest Dolores D DD Zielaskowski Kate K Robers Erika E Sussman Andrew A Hunley Keith K Hughes Christopher R CR Schwartz Matthew R MR Kaphingst Kimberly A KA Buller David B DB Hay Jennifer L JL Berwick Marianne M

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 20190905 11

<h4>Background</h4>The Melanocortin 1 Receptor (<i>MC1R</i>) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating SNPs in <i>MC1R</i> and association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico (NM) population will elucidate the role of <i>MC1R</i> in a multicultural population.<h4>Methods</h4>We genotyped <i>MC1R</i> in 191 NMs attending a primary care clinic in Albuquerque. We obtained individuals' self-identified race/ethnicit ...[more]

PMID: 31488411

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Project description:We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL) and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1) summarized the major axes of genetic variation using principal component analyses, 2) performed tests of Hardy Weinberg equilibrium, 3) compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4) tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes and social inequality.

Dataset Information

MC1R Variation in a New Mexico Population.

Publications

<i>MC1R</i> Variation in a New Mexico Population.

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