Cancer Epidemiology and Prevention Research, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Melanoma Institute Australia (MIA), The University of Sydney, Sydney, Australia.
Sci Rep. 2020 Apr 29;10(1):7303. doi: 10.1038/s41598-020-64019-y.
Skin cancer risk information based on melanocortin-1 receptor (MC1R) variants could inform prevention and screening recommendations for Hispanics, but limited evidence exists on the impact of MC1R variants in Hispanic populations. We studied Hispanic subjects, predominately of Puerto Rican heritage, from Tampa, Florida, US, and Ponce, PR. Blood or saliva samples were collected by prospective recruitment or retrieved from biobanks for genotyping of MC1R variants and ancestry informative markers. Participant demographic and self-reported phenotypic information was collected via biobank records or questionnaires. We determined associations of MC1R genetic risk categories and phenotypic variables and genetic ancestry. Over half of participants carried MC1R variants known to increase risk of skin cancer, and there was diversity in the observed variants across sample populations. Associations between MC1R genetic risk groups and some pigmentation characteristics were identified. Among Puerto Ricans, the proportion of participants carrying MC1R variants imparting elevated skin cancer risk was consistent across quartiles of European, African, and Native American genetic ancestry. These findings demonstrate that MC1R variants are important for pigmentation characteristics in Hispanics and that carriage of high risk MC1R alleles occurs even among Hispanics with stronger African or Native American genetic ancestry.
基于黑素皮质素 1 受体 (MC1R) 变体的皮肤癌风险信息可以为西班牙裔人群的预防和筛查建议提供信息，但关于 MC1R 变体在西班牙裔人群中的影响的证据有限。我们研究了美国佛罗里达州坦帕市和波多黎各蓬塞市的西班牙裔受试者，主要是波多黎各人后裔。通过前瞻性招募或从生物银行中获取血液或唾液样本，对 MC1R 变体和遗传来源信息标记进行基因分型。通过生物银行记录或问卷收集参与者的人口统计学和自我报告的表型信息。我们确定了 MC1R 遗传风险类别和表型变量与遗传来源的关联。超过一半的参与者携带已知会增加皮肤癌风险的 MC1R 变体，并且在样本人群中观察到的变体存在多样性。在波多黎各人中，携带赋予皮肤癌风险升高的 MC1R 变体的参与者比例在欧洲、非洲和美洲原住民遗传来源的四分位数中是一致的。这些发现表明，MC1R 变体对西班牙裔人群的色素沉着特征很重要，即使在具有更强的非洲或美洲原住民遗传背景的西班牙裔人群中，也存在携带高风险 MC1R 等位基因的情况。
