评估犹他州人群中Lentigo恶性黑色素瘤的MC1R变异

IF 2 Q3 ONCOLOGY
Amanda Jiang, Annabelle Huntsman, Carly Becker, Bing-Jian Feng, Kayla Marks, Jessica Donigan, Keith L Duffy, Alice Frigerio, Douglas Grossman, Deborah W Neklason, Robert L Judson-Torres, Dekker C Deacon
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摘要

恶性小雀斑(LM)和恶性小雀斑黑色素瘤(LMM)是由皮肤长期晒伤引起的。LM/LMM的发病率持续上升,尤其是在犹他州,那里的黑色素瘤发病率是全国平均水平的两倍。黑素皮质素-1受体(melanocortin-1 receptor, MC1R)在黑素细胞色素沉着和DNA修复中已有研究,但在LM/LMM中的研究尚未深入。我们调查了175名犹他州LM/LMM患者和402名犹他州参考个体的种系MC1R变异等位基因和基因型频率。比较分析表明,D294H等位基因的频率增加(0.046;p = 0.0042), V60L等位基因频率降低(0.074;p = 0.034)。与犹他参考组相比,LM/LMM组R151C纯合度比杂合度R151C高(OR = 5.6, 95%CI = 0.98-32, p = 0.052), R151C纯合度比野生型高(OR = 5.7, 95%CI = 1.1-30, p = 0.042)。D294H杂合度与LM/LMM相关性较强(OR = 3.8, 95%CI = 1.3 ~ 11, p = 0.014)。相反,V60L杂合度与LM/LMM的相关性较弱(OR = 0.52, 95%CI = 0.26-1.1, p = 0.072)。分层分析显示,在研究的关键MC1R变异中,年龄或性别没有显著差异。这些数据强调了LM/LMM患者中MC1R等位基因频率的显著差异,表明D294H与LM/LMM风险增加相关,而V60L变体与风险呈负相关。这项研究首次全面分析了犹他州LM/LMM患者的特定高风险MC1R变异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Assessing MC1R Variants in Lentigo Maligna Melanoma Within the Utah Population.

Lentigo maligna (LM) and lentigo maligna melanoma (LMM) arise from chronically sun-damaged skin. LM/LMM incidence continues to rise, particularly in Utah, where melanoma rates are twice the national average. The melanocortin-1 receptor (MC1R) has been studied in melanocyte pigmentation and DNA repair but have yet to be thoroughly investigated in LM/LMM. We investigated allele and genotype frequencies of germline MC1R variants among 175 Utah patients diagnosed with LM/LMM and 402 Utah reference individuals. The comparative analysis demonstrated increased frequency of the D294H allele (0.046; p = 0.0042) and decreased frequency of the V60L allele (0.074; p = 0.034) in LM/LMM patients. The LM/LMM group demonstrated a higher OR compared to the Utah reference group associated with R151C homozygosity compared to heterozygous R151C (OR = 5.6, 95%CI = 0.98-32, p = 0.052) and R151C homozygosity compared to wildtype (OR = 5.7, 95%CI = 1.1-30, p = 0.042). D294H heterozygosity was strongly associated with LM/LMM (OR = 3.8, 95%CI = 1.3-11, p = 0.014). Conversely, V60L heterozygosity was less strongly associated with LM/LMM (OR = 0.52, 95%CI = 0.26-1.1, p = 0.072). Stratified analyses show no significant differences in age or gender across the key MC1R variants studied. These data highlight significant differences in MC1R allele frequencies in patients with LM/LMM, demonstrating that D294H is associated with increased LM/LMM risk, while the V60L variant is inversely associated with risk. This study provides the first comprehensive analysis of specific high-risk MC1R variants in LM/LMM patients in Utah.

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