Gasparini Claudia F, Sutherland Heidi G, Maher Bridget, Rodriguez-Acevedo Astrid J, Khlifi Elhame, Haupt Larisa M, Griffiths Lyn R
Menzies Health Institute Queensland, Griffith University Gold Coast, Parklands Drive, Southport, QLD, 4222, Australia,
J Headache Pain. 2015;16:511. doi: 10.1186/s10194-015-0511-y. Epub 2015 Apr 3.
Migraine causes crippling attacks of severe head pain along with associated nausea, vomiting, photophobia and/or phonophobia. The aim of this study was to investigate single nucleotide polymorphisms (SNPs) in the adenosine deaminase, RNA-specific, B1 (ADARB1) and adenosine deaminase, RNA specific, B2 (ADARB2) genes in an Australian case-control Caucasian population for association with migraine. Both candidate genes are highly expressed in the central nervous system and fit criteria for migraine neuropathology. SNPs in the ADARB2 gene were previously found to be positively associated with migraine in a pedigree-based genome wide association study using the genetic isolate of Norfolk Island, Australia. The ADARB1 gene was also chosen for investigation due to its important function in editing neurotransmitter receptor transcripts.
Four SNPs in ADARB1 and nine in ADARB2 were selected by inspecting blocks of linkage disequilibrium in Haploview for genotyping using either TaqMan or Sequenom assays. These SNPs were genotyped in two-hundred and ninety one patients who satisfied the International Classification of Headache Disorders-II 2004 diagnostic criteria for migraine, and three-hundred and fourteen controls, and PLINK was used for association testing.
Chi-square analysis found no significant association between any of the SNPs tested in the ADARB1 and ADARB2 genes in this study and the occurrence of migraine.
In contrast to findings that SNPs in the ADARB2 gene were positively associated with migraine in the Norfolk Island population, we find no evidence to support the involvement of RNA editing genes in migraine susceptibility in an Australian Caucasian population.
偏头痛会引发严重的头部剧痛，同时伴有恶心、呕吐、畏光和/或畏声等症状。本研究旨在调查澳大利亚白种人病例对照人群中，RNA特异性腺苷脱氨酶B1（ADARB1）和RNA特异性腺苷脱氨酶B2（ADARB2）基因的单核苷酸多态性（SNP）与偏头痛的关联性。这两个候选基因在中枢神经系统中均高度表达，符合偏头痛神经病理学的标准。此前在一项基于澳大利亚诺福克岛遗传隔离人群的全基因组关联研究中发现，ADARB2基因中的SNP与偏头痛呈正相关。由于ADARB1基因在编辑神经递质受体转录本方面具有重要功能，因此也被选作研究对象。
通过在Haploview中检查连锁不平衡块，选择了ADARB1基因中的4个SNP和ADARB2基因中的9个SNP，使用TaqMan或Sequenom检测法进行基因分型。对291名符合《国际头痛疾病分类第二版（2004）》偏头痛诊断标准的患者和314名对照进行了这些SNP的基因分型，并使用PLINK进行关联测试。
卡方分析发现，本研究中测试的ADARB1和ADARB2基因中的任何SNP与偏头痛的发生之间均无显著关联。
与在诺福克岛人群中发现ADARB2基因中的SNP与偏头痛呈正相关的结果相反，我们没有发现证据支持RNA编辑基因参与澳大利亚白种人群偏头痛易感性的研究结论。
