• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
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
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
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 @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

γ-氨基丁酸 A 受体基因相互作用:偏头痛易感性的新证据。

Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility.

机构信息

UnIGENe IBMC - Instituto de Biologia Molecular Celular, Universidade do Porto, Porto, Portugal.

出版信息

PLoS One. 2013 Sep 5;8(9):e74087. doi: 10.1371/journal.pone.0074087. eCollection 2013.

DOI:10.1371/journal.pone.0074087
PMID:24040174
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3764027/
Abstract

Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our aims were to assess the role of common variants of gamma-aminobutyric acid A receptor (GABAAR) genes, located in the X-chromosome, in migraine susceptibility and the possible interaction between them. An association study with 188 unrelated cases and 286 migraine-free controls age- and ethnic matched was performed. Twenty-three tagging SNPs were selected in three genes (GABRE, GABRA3 and GABRQ). Allelic, genotypic and haplotypic frequencies were compared between cases and controls. We also focused on gene-gene interactions. The AT genotype of rs3810651 of GABRQ gene was associated with an increased risk for migraine (OR: 4.07; 95% CI: 1.71-9.73, p=0.002), while the CT genotype of rs3902802 (OR: 0.41; 95% CI: 0.21-0.78, p=0.006) and GA genotype of rs2131190 of GABRA3 gene (OR: 0.53; 95% CI: 0.32-0.88, p=0.013) seem to be protective factors. All associations were found in the female group and maintained significance after Bonferroni correction. We also found three nominal associations in the allelic analyses although there were no significant results in the haplotypic analyses. Strikingly, we found strong interactions between six SNPs encoding for different subunits of GABAAR, all significant after permutation correction. To our knowledge, we show for the first time, the putative involvement of polymorphisms in GABAAR genes in migraine susceptibility and more importantly we unraveled a role for novel gene-gene interactions opening new perspectives for the development of more effective treatments.

摘要

偏头痛是一种常见的神经发作性疾病,女性患病率是男性的 3 至 4 倍,这表明可能存在 X 连锁遗传因素。我们的目的是评估位于 X 染色体上的γ-氨基丁酸 A 受体 (GABAAR) 基因的常见变异在偏头痛易感性中的作用,以及它们之间可能的相互作用。我们对 188 例无关联病例和 286 例年龄和种族匹配的偏头痛对照组进行了关联研究。选择了三个基因 (GABRE、GABRA3 和 GABRQ) 中的 23 个标记 SNP。比较病例组和对照组的等位基因、基因型和单倍型频率。我们还关注基因-基因相互作用。GABRQ 基因 rs3810651 的 AT 基因型与偏头痛风险增加相关(OR:4.07;95%CI:1.71-9.73,p=0.002),而 rs3902802 的 CT 基因型(OR:0.41;95%CI:0.21-0.78,p=0.006)和 GABRA3 基因 rs2131190 的 GA 基因型(OR:0.53;95%CI:0.32-0.88,p=0.013)似乎是保护性因素。所有关联均在女性组中发现,并且在经过 Bonferroni 校正后仍具有统计学意义。尽管在单倍型分析中没有显著结果,但我们在等位基因分析中还发现了三个名义关联。值得注意的是,我们发现 GABAAR 编码不同亚基的六个 SNP 之间存在强烈的相互作用,所有这些作用在经过置换校正后均具有统计学意义。据我们所知,这是首次显示 GABAAR 基因多态性与偏头痛易感性的潜在相关性,更重要的是,我们揭示了新的基因-基因相互作用的作用,为开发更有效的治疗方法开辟了新的视角。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/3764027/2410cb3092fc/pone.0074087.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/3764027/2410cb3092fc/pone.0074087.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/3764027/2410cb3092fc/pone.0074087.g001.jpg

相似文献

1
Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility.γ-氨基丁酸 A 受体基因相互作用:偏头痛易感性的新证据。
PLoS One. 2013 Sep 5;8(9):e74087. doi: 10.1371/journal.pone.0074087. eCollection 2013.
2
Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.γ-氨基丁酸(GABA)受体 GABRA4、GABRE 和 GABRQ 基因多态性与偏头痛风险。
J Neural Transm (Vienna). 2018 Apr;125(4):689-698. doi: 10.1007/s00702-017-1834-4. Epub 2018 Jan 3.
3
Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.γ-氨基丁酸(GABA)A受体基因与偏头痛易感性的研究
BMC Med Genet. 2008 Dec 16;9:109. doi: 10.1186/1471-2350-9-109.
4
A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.NRXN2 与 GABRE、SYT1 和 CASK 在偏头痛患者中的遗传相互作用:一项病例对照研究。
J Headache Pain. 2021 Jun 14;22(1):57. doi: 10.1186/s10194-021-01266-y.
5
Gamma-Aminobutyric Acid (Gaba) Receptors Rho (Gabrr) Gene Polymorphisms and Risk for Migraine.γ-氨基丁酸(GABA)受体Rho(Gabrr)基因多态性与偏头痛风险
Headache. 2017 Jul;57(7):1118-1135. doi: 10.1111/head.13122. Epub 2017 Jun 14.
6
Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.γ-氨基丁酸 GABRA4、GABRE 和 GABRQ 受体多态性与特发性震颤的风险。
Pharmacogenet Genomics. 2011 Jul;21(7):436-9. doi: 10.1097/FPC.0b013e328345bec0.
7
Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.γ-氨基丁酸(GABA)受体基因多态性与不安腿综合征风险
Pharmacogenomics J. 2018 Jul;18(4):565-577. doi: 10.1038/s41397-018-0023-7. Epub 2018 May 3.
8
Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study.深入研究突触囊泡机制基因与偏头痛易感性的关联:病例对照研究。
Headache. 2020 Nov;60(10):2152-2165. doi: 10.1111/head.13957. Epub 2020 Sep 26.
9
Association of the pentanucleotide repeat polymorphism in NOS2 promoter region with susceptibility to migraine in a Chinese population.NOS2 启动子区五核苷酸重复多态性与中国人群偏头痛易感性的关联。
DNA Cell Biol. 2011 Feb;30(2):117-22. doi: 10.1089/dna.2010.1102. Epub 2010 Sep 28.
10
Identification of a novel ANKK1 and other dopaminergic (DRD2 and DBH) gene variants in migraine susceptibility.鉴定偏头痛易感性中的新型 ANKK1 及其他多巴胺能基因(DRD2 和 DBH)变异体。
Neuromolecular Med. 2013 Mar;15(1):61-73. doi: 10.1007/s12017-012-8195-9. Epub 2012 Aug 9.

引用本文的文献

1
Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.VAMP2 和 SNAP25 中的非编码变异影响基因表达:在偏头痛易感性中的潜在意义。
J Headache Pain. 2023 Jun 29;24(1):78. doi: 10.1186/s10194-023-01615-z.
2
Gamma-aminobutyric acid and glutamate/glutamine levels in the dentate nucleus and periaqueductal gray with episodic and chronic migraine: a proton magnetic resonance spectroscopy study.齿状核和导水管周围灰质中γ-氨基丁酸和谷氨酸/谷氨酰胺水平与发作性和慢性偏头痛:质子磁共振波谱研究。
J Headache Pain. 2022 Jul 15;23(1):83. doi: 10.1186/s10194-022-01452-6.
3
Role of Omics in Migraine Research and Management: A Narrative Review.

本文引用的文献

1
Assessing risk factors for migraine: differences in gender transmission.评估偏头痛的风险因素:性别传递的差异。
PLoS One. 2012;7(11):e50626. doi: 10.1371/journal.pone.0050626. Epub 2012 Nov 21.
2
Predicting the functional effect of amino acid substitutions and indels.预测氨基酸替换和缺失的功能效应。
PLoS One. 2012;7(10):e46688. doi: 10.1371/journal.pone.0046688. Epub 2012 Oct 8.
3
Investigation of the role of the GABRG2 gene variant in migraine.研究 GABRG2 基因突变在偏头痛中的作用。
组学在偏头痛研究和管理中的作用:叙事性综述。
Mol Neurobiol. 2022 Sep;59(9):5809-5834. doi: 10.1007/s12035-022-02930-3. Epub 2022 Jul 7.
4
A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.NRXN2 与 GABRE、SYT1 和 CASK 在偏头痛患者中的遗传相互作用:一项病例对照研究。
J Headache Pain. 2021 Jun 14;22(1):57. doi: 10.1186/s10194-021-01266-y.
5
A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.一项开创性研究表明 GABRQ rs3810651 基因在印欧女性先证者孤独症严重程度中的作用。
Sci Rep. 2021 Mar 26;11(1):7010. doi: 10.1038/s41598-021-86496-5.
6
CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA.CALCA 和 TRPV1 基因多态性与接受肉毒毒素 A 治疗的女性慢性偏头痛患者的良好预后相关。
J Headache Pain. 2019 Apr 23;20(1):39. doi: 10.1186/s10194-019-0989-9.
7
Increased thalamic glutamate/glutamine levels in migraineurs.偏头痛患者的丘脑谷氨酸/谷氨酰胺水平升高。
J Headache Pain. 2018 Jul 17;19(1):55. doi: 10.1186/s10194-018-0885-8.
8
Missense Gamma-Aminobutyric Acid Receptor Polymorphisms Are Associated with Reaction Time, Motor Time, and Ethanol Effects .错义γ-氨基丁酸受体多态性与反应时间、运动时间及乙醇效应相关。
Front Cell Neurosci. 2018 Jan 31;12:10. doi: 10.3389/fncel.2018.00010. eCollection 2018.
9
Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.γ-氨基丁酸(GABA)受体 GABRA4、GABRE 和 GABRQ 基因多态性与偏头痛风险。
J Neural Transm (Vienna). 2018 Apr;125(4):689-698. doi: 10.1007/s00702-017-1834-4. Epub 2018 Jan 3.
10
Epidemiology of migraine among students in Mali.马里学生偏头痛的流行病学研究
eNeurologicalSci. 2017 Apr 11;7:32-36. doi: 10.1016/j.ensci.2017.04.001. eCollection 2017 Jun.
J Neurol Sci. 2012 Jul 15;318(1-2):112-4. doi: 10.1016/j.jns.2012.03.014. Epub 2012 May 7.
4
Significant differences in gene expression of GABA receptors in peripheral blood leukocytes of migraineurs.偏头痛患者外周血白细胞中 GABA 受体基因表达的显著差异。
Gene. 2011 Dec 15;490(1-2):32-6. doi: 10.1016/j.gene.2011.08.031. Epub 2011 Sep 24.
5
A genetic ensemble approach for gene-gene interaction identification.基于遗传集成的基因-基因交互作用识别方法。
BMC Bioinformatics. 2010 Oct 21;11:524. doi: 10.1186/1471-2105-11-524.
6
BDNF and CGRP interaction: implications in migraine susceptibility.BDNF 与 CGRP 的相互作用:偏头痛易感性的影响。
Cephalalgia. 2010 Nov;30(11):1375-82. doi: 10.1177/0333102410368443. Epub 2010 May 10.
7
A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
8
Enabling personal genomics with an explicit test of epistasis.通过明确的上位性检验实现个人基因组学。
Pac Symp Biocomput. 2010:327-36. doi: 10.1142/9789814295291_0035.
9
GABA and valproate modulate trigeminovascular nociceptive transmission in the thalamus.GABA 和丙戊酸可调节丘脑三叉神经血管伤害性传递。
Neurobiol Dis. 2010 Feb;37(2):314-23. doi: 10.1016/j.nbd.2009.10.007. Epub 2009 Oct 23.
10
GABA(A) receptors and their associated proteins: implications in the etiology and treatment of schizophrenia and related disorders.γ-氨基丁酸A型(GABA(A))受体及其相关蛋白:对精神分裂症及相关疾病病因和治疗的影响
Neuropharmacology. 2009 Oct-Nov;57(5-6):481-95. doi: 10.1016/j.neuropharm.2009.07.027. Epub 2009 Jul 23.