GWAS 鉴定出勃起功能障碍风险基因座，并提示下丘脑神经生物学和糖尿病在发病机制中的作用。
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.
机构信息
Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
出版信息
Am J Hum Genet. 2019 Jan 3;104(1):157-163. doi: 10.1016/j.ajhg.2018.11.004. Epub 2018 Dec 21.
Erectile dysfunction (ED) is a common condition affecting more than 20% of men over 60 years, yet little is known about its genetic architecture. We performed a genome-wide association study of ED in 6,175 case subjects among 223,805 European men and identified one locus at 6q16.3 (lead variant rs57989773, OR 1.20 per C-allele; p = 5.71 × 10), located between MCHR2 and SIM1. In silico analysis suggests SIM1 to confer ED risk through hypothalamic dysregulation. Mendelian randomization provides evidence that genetic risk of type 2 diabetes mellitus is a cause of ED (OR 1.11 per 1-log unit higher risk of type 2 diabetes). These findings provide insights into the biological underpinnings and the causes of ED and may help prioritize the development of future therapies for this common disorder.
勃起功能障碍（ED）是一种常见病症，影响超过 60 岁的 20%以上的男性，但人们对其遗传结构知之甚少。我们在 223805 名欧洲男性中的 6175 名病例中进行了 ED 的全基因组关联研究，在 6q16.3 处鉴定出一个位点（主要变异 rs57989773，每 C-等位基因 OR 为 1.20；p=5.71×10），位于 MCHR2 和 SIM1 之间。计算分析表明 SIM1 通过下丘脑失调导致 ED 风险。孟德尔随机化提供了证据表明 2 型糖尿病的遗传风险是 ED 的一个原因（2 型糖尿病风险每增加 1 个对数单位，OR 为 1.11）。这些发现深入了解了 ED 的生物学基础和病因，并可能有助于为这种常见疾病的未来治疗方法确定优先次序。
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