Zafar R, Saleem T, Sheikh N, Maqbool H, Mukhtar M, Abbasi M H
Cell and Molecular Biology Laboratory, Institute of Zoology, University of the Punjab, Lahore 54590, Pakistan.
Department of Zoology, University of Okara, Renala Khurd 56300, Pakistan.
Saudi J Biol Sci. 2021 Oct;28(10):5793-5799. doi: 10.1016/j.sjbs.2021.06.028. Epub 2021 Jun 17.
Migraine is a chronic neurovascular condition characterized by recurring attacks of pulsating headaches. Genome-wide association studies (GWAS) identified many potential loci associated with migraine. To check the association of polymorphisms of (rs2651899), (rs11172113), and (rs10166942) with migraine, the first time a case-control study was conducted in understudied Pakistani population.
The study included 127 migraine patients (21 in migraine with aura and 106 with migraine without aura group) and 120 healthy control subjects from different areas of Punjab, Pakistan. Blood samples were collected from all the participants, and DNA was isolated from the lymphocytes by the modified organic method. Sanger's sequencing was done for rs2651899), (rs11172113), and (rs10166942) in all the samples to check the genotype. Logistic regression analysis was done using SPSS 20.0 to check the association of these SNPs with migraine susceptibility.
We found statistically significant differences between case and control group for rs2651899) at genotypic level (p < 0.001), allelic level (p < 0.001; OR 3.088; 95% CI 2.082-4.579) and for dominant model (p < 0.001; OR 5.437; 95% CI 3.112-9.498). The major findings of this study suggested that rs2651899 is strongly associated with migraine in overall and subgroup analysis of genotypes. (rs11172113) showed significant association with migraine except in subgroup comparison. A similar trend of association was found for (rs10166942) however, significant association was found only at the allelic level but no significant difference was seen at the genotypic level between case and control. One novel mutation c.67 + 4436_67 + 4438delA was also identified in the current study near (rs11172113) polymorphic site.
In this first-ever replication report from Pakistan, rs2651899) was found as a potential genetic marker in migraine susceptibility while (rs11172113) and (rs10166942) showed partial association in subgroup analysis.
偏头痛是一种慢性神经血管疾病，其特征为反复发作的搏动性头痛。全基因组关联研究（GWAS）确定了许多与偏头痛相关的潜在基因座。为了检验（rs2651899）、（rs11172113）和（rs10166942）的多态性与偏头痛的关联，首次在研究较少的巴基斯坦人群中进行了病例对照研究。
该研究纳入了127例偏头痛患者（21例有先兆偏头痛和106例无先兆偏头痛组）以及120名来自巴基斯坦旁遮普省不同地区的健康对照者。从所有参与者采集血样，并通过改良的有机方法从淋巴细胞中分离DNA。对所有样本中的rs2651899、（rs11172113）和（rs10166942）进行桑格测序以检查基因型。使用SPSS 20.0进行逻辑回归分析，以检验这些单核苷酸多态性（SNP）与偏头痛易感性的关联。
我们发现，在基因型水平（p < 0.001）、等位基因水平（p < 0.001；比值比[OR] 3.088；95%置信区间[CI] 2.082 - 4.579）以及显性模型（p < 0.001；OR 5.437；95% CI 3.112 - 9.498）上，rs2651899在病例组和对照组之间存在统计学显著差异。本研究的主要发现表明，在基因型的总体和亚组分析中，rs2651899与偏头痛密切相关。（rs11172113）除在亚组比较中与偏头痛有显著关联。（rs10166942）也发现了类似的关联趋势，然而，仅在等位基因水平发现显著关联，病例组和对照组在基因型水平未见显著差异。在本研究中，还在（rs11172113）多态性位点附近鉴定出一个新的突变c.67 + 4436_67 + 4438delA。
在巴基斯坦的这份首例重复报告中，rs2651899被发现是偏头痛易感性的一个潜在遗传标志物，而（rs11172113）和（rs10166942）在亚组分析中显示出部分关联。
