文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

Associations of Rare Variants in the Gene with Bipolar Disorder in Chinese Population.

作者信息

Zhang Yankai, Qu Chunhui, Wang Tingting, Wang Xiangwen, Feng Shunkang, Sun Ping

机构信息

Department of Mood Disorders, Qingdao Mental Health Center, Qingdao, Shandong, People's Republic of China.

出版信息

Neuropsychiatr Dis Treat. 2025 Aug 29;21:1823-1830. doi: 10.2147/NDT.S530341. eCollection 2025.


DOI:10.2147/NDT.S530341
PMID:40904767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12404207/
Abstract

PURPOSE: This pioneering study aimed to explore the associations between the A-kinase anchoring protein 11 () gene and bipolar disorder (BD) in a Chinese population. We sought to replicate findings from European populations regarding ultra-rare protein-truncating variants (PTVs) within exon 8 of and identify any novel rare mutations linked to Chinese BD patients. METHODS: We conducted a case-control association study, including a cohort of 284 Chinese BD patients, with the control group comprising 10,588 individuals from the China Metabolic Analytics Project (ChinaMAP) database. Polymerase chain reaction (PCR) amplification and Sanger sequencing were performed to analyze exon 8 of the gene. Statistical analysis involved chi-square tests on VassarStats to assess allele frequency differences between BD patients and the control group, along with power analysis using PASS (version 21.0.3). RESULTS: In 284 Chinese BD patients, within exon 8 of the gene we did not find any ultra-rare PTVs previously identified in European BD patients. However, five additional rare variants were discovered, including three missense variants and two synonymous variants. Notably, rs2236364 showed concordant deleterious predictions across four computational tools, warranting prioritized investigation. Statistical analysis revealed no significant difference in allele frequencies between groups (= 0.240), although a slightly higher proportion of rare variants was observed in cases versus controls. Additionally, three variants were not documented in the Bipolar Exomes Browser (BipEx) database, the frequencies of the other two were mildly lower in cases than controls, contrary to the trend observed in the Chinese population. The observed difference may be due to population genetic-environmental interaction. CONCLUSION: In this pioneering Chinese population study of BD-, we did not replicate the association of ultra-rare PTVs but identified five additional rare variants. Population-specific distribution patterns-exemplified by rs2236364 with computationally deleterious predictions-warrant validation in expanded cohorts to elucidate trans-ethnic risk mechanisms.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69b4/12404207/b764e75d71ba/NDT-21-1823-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69b4/12404207/4debad2b4f07/NDT-21-1823-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69b4/12404207/b764e75d71ba/NDT-21-1823-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69b4/12404207/4debad2b4f07/NDT-21-1823-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69b4/12404207/b764e75d71ba/NDT-21-1823-g0002.jpg

相似文献

[1]
Associations of Rare Variants in the Gene with Bipolar Disorder in Chinese Population.

Neuropsychiatr Dis Treat. 2025-8-29

[2]
Prescription of Controlled Substances: Benefits and Risks

2025-1

[3]
The effect of sample site and collection procedure on identification of SARS-CoV-2 infection.

Cochrane Database Syst Rev. 2024-12-16

[4]
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Hum Reprod Open. 2025-8-29

[5]
Ketamine and other glutamate receptor modulators for depression in bipolar disorder in adults.

Cochrane Database Syst Rev. 2015-9-29

[6]
Does Augmenting Irradiated Autografts With Free Vascularized Fibula Graft in Patients With Bone Loss From a Malignant Tumor Achieve Union, Function, and Complication Rate Comparably to Patients Without Bone Loss and Augmentation When Reconstructing Intercalary Resections in the Lower Extremity?

Clin Orthop Relat Res. 2025-6-26

[7]
Falls prevention interventions for community-dwelling older adults: systematic review and meta-analysis of benefits, harms, and patient values and preferences.

Syst Rev. 2024-11-26

[8]
Acupuncture for treating overactive bladder in adults.

Cochrane Database Syst Rev. 2022-9-23

[9]
Eliciting adverse effects data from participants in clinical trials.

Cochrane Database Syst Rev. 2018-1-16

[10]
SNP-associated differential methylation in : insights into genetic-epigenetic interactions.

Epigenomics. 2025-6

本文引用的文献

[1]
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder.

Nat Genet. 2025-4

[2]
Neutrophil/high-density lipoprotein cholesterol (HDL), monocyte/HDL and platelet/HDL ratios are increased in acute mania as markers of inflammation, even after controlling for confounding factors.

Curr Med Res Opin. 2023-10

[3]
Thiol-disulphide homeostasis, ischemia-modified albumin, complete blood count-derived inflammatory markers and C-reactive protein from acute mania to early remission in bipolar disorder.

J Affect Disord. 2023-10-15

[4]
Deep proteomics identifies shared molecular pathway alterations in synapses of patients with schizophrenia and bipolar disorder and mouse model.

Cell Rep. 2023-5-30

[5]
Common variants associated with AKAP11 expression confer risk of bipolar disorder.

Asian J Psychiatr. 2022-11

[6]
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.

Nat Genet. 2022-5

[7]
Phenotypes, mechanisms and therapeutics: insights from bipolar disorder GWAS findings.

Mol Psychiatry. 2022-7

[8]
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.

Nat Genet. 2021-6

[9]
Bipolar disorders.

Lancet. 2020-12-5

[10]
Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.

JAMA Psychiatry. 2021-3-1

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索