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分析澳大利亚偏头痛病例对照队列中 KCNK18 基因的 3 种常见多态性。

Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian Migraine case-control cohort.

机构信息

Genomics Research Centre, Griffith Health Institute, School of Medical Science, Griffith University Gold Coast, Parklands Drive, Southport, Queensland 4215, Australia.

出版信息

Gene. 2013 Oct 10;528(2):343-6. doi: 10.1016/j.gene.2013.07.030. Epub 2013 Jul 31.

Abstract

Migraine is a common neurological disorder characterised by temporary disabling attacks of severe head pain and associated disturbances. There is significant evidence to suggest a genetic aetiology to the disease however few causal mutations have been conclusively linked to the migraine subtypes Migraine with (MA) or without Aura (MO). The Potassium Channel, Subfamily K, member 18 (KCNK18) gene, coding the potassium channel TRESK, is the first gene in which a rare mutation resulting in a non-functional truncated protein has been identified and causally linked to MA in a multigenerational family. In this study, three common polymorphisms in the KCNK18 gene were analysed for genetic variation in an Australian case-control migraine population consisting of 340 migraine cases and 345 controls. No association was observed for the polymorphisms examined with the migraine phenotype or with any haplotypes across the gene. Therefore even though the KCNK18 gene is the only gene to be causally linked to MA our studies indicate that common genetic variation in the gene is not a contributor to MA.

摘要

偏头痛是一种常见的神经障碍性疾病,其特征为暂时的、使人丧失能力的严重头痛发作及相关的紊乱。有大量证据表明该疾病存在遗传病因,但少数因果突变已被明确与偏头痛亚型偏头痛伴(MA)或不伴先兆(MO)相关联。钾离子通道亚家族 K,成员 18(KCNK18)基因,编码钾离子通道 TRESK,是第一个确定的罕见突变导致无功能截断蛋白的基因,并且在一个多代家族中与 MA 因果相关联。在这项研究中,对 340 例偏头痛病例和 345 例对照的澳大利亚病例对照偏头痛人群中的 KCNK18 基因中的三个常见多态性进行了遗传变异分析。所检查的多态性与偏头痛表型或基因上的任何单倍型均无关联。因此,尽管 KCNK18 基因是唯一与 MA 因果相关联的基因,但我们的研究表明,该基因的常见遗传变异不是 MA 的一个促成因素。

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