MC1R Variation in a New Mexico Population.
MC1R Variation in a New Mexico Population.
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新墨西哥州人口中的 MC1R 变异。
DOI：
10.1158/1055-9965.epi-19-0378
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Berwick,Marianne
中科院分区：
文献类型：
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作者：
White,KirstenAM;Dailey,YvonneT;Guest,DoloresD;Zielaskowski,Kate;Robers,Erika;Sussman,Andrew;Hunley,Keith;Hughes,ChristopherR;Schwartz,MatthewR;Kaphingst,KimberlyA;Buller,DavidB;Hay,JenniferL;Berwick,Marianne
背景黑素皮质素1受体(MC1R)参与色素沉着，色素沉着是黑色素瘤发生的重要危险因素。在新墨西哥州(NM)人群中评估MC1R基因SNPs与种族/民族、皮肤类型和癌症风险的关系，将阐明MC1R基因在多元文化人群中的作用。方法我们对在阿尔伯克基初级保健诊所就诊的191名NMS患者进行MC1R型分析。我们获得了个人自我认同的种族/民族、皮肤类型和感知的癌症风险。我们将遗传风险定义为携带MC1R中最常见的9个SNP中的任何一个或多个。结果我们发现MC1RSNP R163Q(Rs885479)在47.6%的自认为拉美裔美国人和12.9%的非西班牙裔白人(Nhw)中被发现，这使得拉美裔美国人处于更高的“遗传风险”(通过携带MC1R常见变体之一来定义)。当我们从分析中删除R163Q时，与nhw(48.3%)相比，拉美裔不再处于更高的遗传风险(33.3%)，这与黑色素瘤发生率、晒黑能力和较低的感知风险一致。拉美裔美国人患黑色素瘤的风险显著低于NHW，晒黑能力明显高于NHW。结论MC1R基因R163Q变异可能不是NM拉美裔黑色素瘤的危险因素。这一建议表明，需要仔细解释特定人群中的遗传风险因素。影响遗传风险不能从北欧人群直接推断到非欧洲人群。
BackgroundThe Melanocortin 1 Receptor (MC1R) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating SNPs inMC1Rand association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico (NM) population will elucidate the role ofMC1Rin a multicultural population.MethodsWe genotypedMC1Rin 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 inMC1R.ResultsWe found that oneMC1RSNP, 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 theMC1Rcommon 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.ConclusionsThe R163Q variant inMC1Rmay 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.ImpactGenetic risk cannot be extrapolated from Northern European populations directly to non-European populations.