Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case-control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10-0.24; P = 4.09 × 10-06) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 × 10-04) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.

中文翻译：

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帕金森病和黑色素瘤之间重叠的遗传结构。


流行病学研究报告了关于帕金森病 (PD) 和皮肤黑色素瘤（黑色素瘤）之间关联的不一致结果。确定这些疾病之间共有的遗传结构可以支持流行病学发现并确定常见的风险基因和生物学途径。在这里，我们将多基因、连锁不平衡信息方法应用于黑色素瘤和 PD 的最大可用病例对照、全基因组关联研究摘要统计数据。我们发现黑色素瘤和 PD 之间存在显着的正相关遗传相关性（相关性：0.17，95% CI 0.10-0.24；P = 4.09 × 10-06）。我们进一步证明黑色素瘤和 PD 推断的基因表达在组织中重叠（相关性：0.14，95% CI 0.06 至 0.22；P = 7.87 × 10-04），并强调包括 PIEZO1、TRAAPPC2L 和 SOX6 在内的 7 个基因作为黑色素瘤的潜在介导者。黑色素瘤和 PD 之间的遗传相关性。这些发现证明了帕金森病和黑色素瘤之间特定的、共同的遗传结构，这体现在基因表达水平上。