UnIGENe IBMC - Instituto de Biologia Molecular Celular, Universidade do Porto, Porto, Portugal.
PLoS One. 2013 Sep 5;8(9):e74087. doi: 10.1371/journal.pone.0074087. eCollection 2013.
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.
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。