Saleheen Danish, Bukhari Shabbar, Haider Shajjia Razi, Nazir Aisha, Khanum Shaheen, Shafqat Saad, Anis M Kashif, Frossard Philippe
Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
Stroke. 2005 Oct;36(10):2275-7. doi: 10.1161/01.STR.0000182242.59466.ee. Epub 2005 Sep 15.
Identification of STRK1 locus by the deCODE group followed by the discovery of phosphodiesterase 4D (PDE4D) gene in strong association with ischemic stroke patients has provided useful insights toward understanding the genetic etiology of the disease. In this study, we aimed at investigating the association between 3 polymorphisms of the PDE4D gene and ischemic stroke in the Pakistani population.
Three polymorphisms in PDE4D gene were analyzed in 200 patients of ischemic stroke and 250 controls of Pakistani origin using polymerase chain reaction-restriction fragment length polymorphism method. Data were coded and entered in SPSS Windows (version 12.0). Odds ratios and 95% CIs were calculated using multivariate logistic regression analysis.
Marker SNP83(rs966221) was found significantly associated with ischemic stroke on univariate and multivariate analysis (P<0.005; odds ratio, 1.64 [1.13 to 2.40]). Haplotype analysis for markers in linkage disequilibrium failed to show any association with the disease.
The association of PDE4D variation with ischemic stroke extends to the Pakistani population and supports a role for phosphodiesterases in stroke pathogenesis.
deCODE研究小组对STRK1基因座进行鉴定,随后发现磷酸二酯酶4D(PDE4D)基因与缺血性中风患者密切相关,这为理解该疾病的遗传病因提供了有益的见解。在本研究中,我们旨在调查PDE4D基因的3个多态性与巴基斯坦人群缺血性中风之间的关联。
采用聚合酶链反应-限制性片段长度多态性方法,对200例缺血性中风患者和250例巴基斯坦裔对照者的PDE4D基因中的3个多态性进行分析。数据进行编码后输入SPSS Windows(版本12.0)。使用多因素逻辑回归分析计算比值比和95%可信区间。
在单因素和多因素分析中,标记SNP83(rs966221)与缺血性中风显著相关(P<0.005;比值比,1.64[1.13至2.40])。对处于连锁不平衡状态的标记进行单倍型分析,未显示与该疾病有任何关联。
PDE4D变异与缺血性中风的关联在巴基斯坦人群中也存在,支持磷酸二酯酶在中风发病机制中起作用。