Department of Neuroscience, Karolinska Institutet, Retzius väg 8, Stockholm 171 77, Sweden.
BMC Med Genet. 2014 Mar 28;15:38. doi: 10.1186/1471-2350-15-38.
Migraine is a common neurovascular disorder with symptoms including headache of moderate to severe intensity and recurring attacks. There is no cure for migraine today and the pathology is poorly understood. Common forms of migraine have a complex genetic background and heritability has been estimated to be around 50%. Recent genome-wide association studies (GWAS) on European and American migraine cohorts have led to the identification of new genetic risk factors for migraine.
We performed an association study in a Swedish population based cohort, investigating the frequency of eight single nucleotide polymorphisms (SNPs) recently identified as genetic risk factors for migraine in three GWAS, using available array data (Illumina Omni Express chip). The eight SNPs were rs2651899, rs3790455, rs10166942, rs7640543, rs9349379, rs1835740, rs6478241 and rs11172113. Because information on rs3790455, rs10166942 and rs7640543 was not directly available, we selected SNPs in high Linkage Disequilibrium (LD) with these three SNPs, and replaced them with rs2274316, rs1003540 and rs4075749, respectively.
We were able to replicate the association with rs2651899 and found a trend for association with rs1835740 in our Swedish cohort.
This is the first reported genetic association study of a Swedish migraine case control material. We have thus replicated findings of susceptibility loci for migraine in an independent genetic material, thereby increasing knowledge about genetic risk factors for this common neurological disorder.
偏头痛是一种常见的神经血管疾病，其症状包括中重度头痛和反复发作。目前尚无治愈偏头痛的方法，其病理机制也知之甚少。常见的偏头痛形式具有复杂的遗传背景，其遗传性估计在 50%左右。最近对欧洲和美国偏头痛队列进行的全基因组关联研究（GWAS）导致了偏头痛新的遗传风险因素的确定。
我们在一个瑞典人群队列中进行了一项关联研究，使用现有的阵列数据（Illumina Omni Express 芯片），调查了最近在三项 GWAS 中确定为偏头痛遗传风险因素的 8 个单核苷酸多态性（SNP）的频率。这 8 个 SNP 是 rs2651899、rs3790455、rs10166942、rs7640543、rs9349379、rs1835740、rs6478241 和 rs11172113。由于无法直接获得 rs3790455、rs10166942 和 rs7640543 的信息，我们选择了与这三个 SNP 高度连锁不平衡（LD）的 SNP，并分别用 rs2274316、rs1003540 和 rs4075749 替换它们。
我们能够复制与 rs2651899 的关联，并在我们的瑞典队列中发现与 rs1835740 的关联趋势。
这是首次对瑞典偏头痛病例对照材料进行的遗传关联研究。我们在独立的遗传材料中复制了偏头痛易感基因座的发现，从而增加了对这种常见神经疾病遗传风险因素的了解。
