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首页> 外文期刊>The Journal of investigative dermatology. >Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk
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Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk

机译：量化对皮肤鳞状细胞癌风险的多基因贡献

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摘要

Genetic factors play an important role in cutaneous squamous cell carcinoma risk. Genome-wide association studies have identified 21 single nucleotide polymorphisms associated with cutaneous squamous cell carcinoma risk. Yet no studies have attempted to quantify the contribution of heritability to cutaneous squamous cell carcinoma risk by calculating the population attributable risk using a combination of all discovered genetic variants. Using an additive multi-locus linear logistic model, we determined the cumulative association of these 21 genetic regions to cutaneous squamous cell carcinoma population attributable risk. We computed a multi-locus population attributable risk of 62%, suggesting that if the effects of all the risk alleles were removed from a population, the cutaneous squamous cell carcinoma risk would drop by 62%. Using stratified analysis, we also examined the impact of sex on polygenic risk score, and found that men have an increased relative risk throughout the spectrum of the polygenic risk score. Quantifying the impact of genetic predisposition on the proportion of cancer cases can guide future research decisions and public health policy planning.
机译：遗传因素在皮肤鳞状细胞癌风险中起重要作用。基因组 - 范围的协会研究已经确定了与皮肤鳞状细胞癌风险相关的21个单核苷酸多态性。然而，没有研究通过使用所有发现的遗传变异的组合计算群体可归因的风险来量化对皮肤鳞状细胞癌风险的贡献。使用添加剂多基因座线性逻辑模型，我们确定了这21个遗传区域的累积关联，对皮肤鳞状细胞癌群体应占风险。我们计算了62％的多基因群人口占占性风险，表明，如果所有风险等位基因的效果从人口中取出，皮肤鳞状细胞癌风险将降低62％。使用分层分析，我们还检查了性别对多种子基风险评分的影响，发现男性在多种规范评分的范围内具有增加的相对风险。量化遗传易感性对癌症病例比例的影响，可以指导未来的研究决策和公共卫生政策规划。

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