大规模全外显子组测序关联研究发现 FOXH1 基因和鞘脂代谢通路影响重度抑郁症。
Large-scale whole-exome sequencing association study identifies FOXH1 gene and sphingolipid metabolism pathway influencing major depressive disorder.
机构信息
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.
Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China.
出版信息
CNS Neurosci Ther. 2021 Nov;27(11):1425-1428. doi: 10.1111/cns.13733.
Abstract
In the present study, we performed an exome-wide investigation of the burden of rare disease-causing variants for major depressive disorder (MDD) using 16,702 samples from UK biobank. Gene-based association analysis and candidate gene prioritization analysis indicated that FOXH1 have significant association with MDD. In addition, sphingolipid metabolism pathway was found to be less enriched with rare disease-causing variants in the MDD group, suggesting that this gene set may be involved in the pathophysiology of MDD.
摘要
在本研究中，我们使用来自英国生物银行的 16702 个样本，对导致重度抑郁症（MDD）的罕见病致病变异的负担进行了外显子组-wide 研究。基于基因的关联分析和候选基因优先级分析表明，FOXH1 与 MDD 显著相关。此外，在 MDD 组中发现鞘脂代谢途径的罕见病致病变异较少富集，这表明该基因集可能参与 MDD 的病理生理学。
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