Genetic associations between bipolar disorder and brain structural phenotypes

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	Genetic associations between bipolar disorder and brain structural phenotypes
	Shang, MY; Zhang, CY; Wu, Y; Wang, L; Wang, C; Li, M
	2023
发表期刊	CEREBRAL CORTEX
ISSN	1047-3211
卷号	33 期号:11 页码:6990-7000
摘要	Patients with bipolar disorder (BD) and their first-degree relatives exhibit alterations in brain volume and cortical structure, whereas the underlying genetic mechanisms remain unclear. In this study, based on the published genome-wide association studies (GWAS), the extent of polygenic overlap between BD and 15 brain structural phenotypes was investigated using linkage disequilibrium score regression and MiXeR tool, and the shared genomic loci were discovered by conjunctional false discovery rate (conjFDR) and expression quantitative trait loci (eQTL) analyses. MiXeR estimated the overall measure of polygenic overlap between BD and brain structural phenotypes as 4-53% on a 0-100% scale (as quantified by the Dice coefficient). Subsequent conjFDR analyses identified 54 independent loci (71 risk single-nucleotide polymorphisms) jointly associated with BD and brain structural phenotypes with a conjFDR < 0.05, among which 33 were novel that had not been reported in the previous BD GWAS. Follow-up eQTL analyses in respective brain regions both confirmed well-known risk genes (e.g. CACNA1C, NEK4, GNL3, MAPK3) and discovered novel risk genes (e.g. LIMK2 and CAMK2N2). This study indicates a substantial shared genetic basis between BD and brain structural phenotypes, and provides novel insights into the developmental origin of BD and related biological mechanisms.
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14137
专题	科研部门_转化基因组（李明）
推荐引用方式 GB/T 7714	Shang, MY,Zhang, CY,Wu, Y,et al. Genetic associations between bipolar disorder and brain structural phenotypes[J]. CEREBRAL CORTEX,2023,33(11):6990-7000.
APA	Shang, MY,Zhang, CY,Wu, Y,Wang, L,Wang, C,&Li, M.(2023).Genetic associations between bipolar disorder and brain structural phenotypes.CEREBRAL CORTEX,33(11),6990-7000.
MLA	Shang, MY,et al."Genetic associations between bipolar disorder and brain structural phenotypes".CEREBRAL CORTEX 33.11(2023):6990-7000.

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