Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo

JID innovations : skin science from molecules to population health Pub Date : 2023-11-01 DOI:10.1016/j.xjidi.2023.100217

Sarem Rashid , Ivan Molotkov , Nikolai Klebanov , Michael Shaughnessy , Mark J. Daly , Mykyta Artomov , Hensin Tsao

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Abstract

Several observational studies have demonstrated a consistent pattern of decreased melanoma risk among patients with vitiligo. More recently, this finding has been supported by a suggested genetic relationship between the two entities, with certain variants significantly associated with an increased risk of melanoma, basal cell carcinoma, and squamous cell carcinoma but a decreased risk of vitiligo. We compared 48 associated variants from a recently published GWAS and identified three variants—located in the TYR, MC1R-DEF8, and RALY-EIF2S2-ASIP-AHCY-ITCH loci— that correlated with an increased risk for melanoma, basal cell carcinoma, and squamous cell carcinoma and a decreased risk for vitiligo. We then used results of skin cancers and vitiligo GWAS to compare the shared genetic properties between these two traits through an unbiased Mendelian randomization analysis. Our results suggest that the inverse genetic relationship between common skin cancers and vitiligo is broader than previously reported owing to the influence of shared genome-wide significant associations.

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孟德尔随机化分析揭示皮肤癌和白癜风之间的反向遗传风险

几项观察性研究表明，白癜风患者患黑色素瘤的风险降低具有一致的模式。最近，这一发现得到了两种实体之间的遗传关系的支持，某些变异与黑色素瘤、基底细胞癌和鳞状细胞癌的风险增加显著相关，但与白癜风的风险降低相关。我们比较了最近发表的GWAS的48个相关变异，并确定了三个变异——位于TYR、MC1R-DEF8和RALY-EIF2S2-ASIP-AHCY-ITCH位点——与黑色素瘤、基底细胞癌和鳞状细胞癌的风险增加和白癜风的风险降低相关。然后，我们使用皮肤癌和白癜风GWAS的结果，通过无偏孟德尔随机化分析来比较这两种特征之间的共同遗传特性。我们的研究结果表明，由于共享的全基因组显著关联的影响，普通皮肤癌和白癜风之间的负遗传关系比以前报道的更广泛。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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