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全基因组荟萃分析确定偏头痛的新易感位点。

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

机构信息

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.

出版信息

Nat Genet. 2013 Aug;45(8):912-917. doi: 10.1038/ng.2676. Epub 2013 Jun 23.

DOI:10.1038/ng.2676
PMID:23793025
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4041123/
Abstract

Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P<5×10(-8)). Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21. Three of these loci were identified in disease subgroup analyses. Brain tissue expression quantitative trait locus analysis suggests potential functional candidate genes at four loci: APOA1BP, TBC1D7, FUT9, STAT6 and ATP5B.

摘要

偏头痛是最常见的脑部疾病,影响约 14%的成年人口,但它的分子机制尚未被充分了解。我们报告了跨越 29 项全基因组关联研究的荟萃分析结果,包括总共 23285 名偏头痛患者(病例)和 95425 名人群匹配的对照。我们确定了 12 个与偏头痛易感性相关的位点(P<5×10(-8))。其中 5 个是新的:位于 1p36 附近的 AJAP1、位于 1p13 附近的 TSPAN2、位于 6q16 内的 FHL5、位于 7p14 内的 C7orf10 和位于 8q21 附近的 MMP16。其中三个位点在疾病亚组分析中被发现。脑组织表达数量性状基因座分析提示四个位点的潜在功能候选基因:APOA1BP、TBC1D7、FUT9、STAT6 和 ATP5B。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b770/4041123/bdcdd4bf93ee/emss-53496-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b770/4041123/ca3481e15c43/emss-53496-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b770/4041123/bdcdd4bf93ee/emss-53496-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b770/4041123/ca3481e15c43/emss-53496-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b770/4041123/bdcdd4bf93ee/emss-53496-f0002.jpg

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