首页> 外文期刊>Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology >Phosphodiesterase 4D (PDE4D) gene variants and the risk of ischemic stroke in a South Indian population.
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Phosphodiesterase 4D (PDE4D) gene variants and the risk of ischemic stroke in a South Indian population.

机译:磷酸二酯酶4D(PDE4D)基因变异和南印度人口缺血性中风的风险。

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Stroke is the third largest cause of death and a major cause of adult disability and mortality worldwide. Experimental evidence suggests that genetic determinants do contribute a large part to stroke risk. The identification of phosphodiesterase 4D gene as a risk factor for stroke caused a great deal of interest in stroke genetics. Many of the studies of PDE4D gene have focused on the original Icelandic findings but the association between specific SNPs and haplotypes has been inconsistent. The aim of the present study was to investigate the association of three SNPs 32 (rs 456009), 83 (rs 966221) and 87 (rs 2910829), originally described by deCODE group; with stroke in a South Indian population from Andhra Pradesh. Two hundred and fifty ischemic stroke patients and two hundred and fifty controls were included in the study. The stroke patients were sub typed according to TOAST classification. SNP 83 showed significant association with stroke in the population under study while SNPs 87 and 32 were monomorphic. Further SNP 83 was found to be significantly associated with two stroke subtypes, intracranial large artery atherosclerosis (the most frequent subtype in the population) and small artery occlusion. The association with other subtypes was found to be insignificant. Further, SNP 83 was found to be associated significantly with some conventional stroke risk factors like diabetes and smoking.
机译:中风是全球第三大死亡原因,也是成人残疾和死亡的主要原因。实验证据表明,遗传决定因素确实在中风风险中起很大作用。磷酸二酯酶4D基因作为中风的危险因素的鉴定引起中风遗传学的极大兴趣。对PDE4D基因的许多研究都集中在原始的冰岛研究结果上,但是特定SNP与单倍型之间的关联一直不一致。本研究的目的是调查最初由deCODE小组描述的三个SNP 32(rs 456009),83(rs 966221)和87(rs 2910829)的关联。来自安得拉邦的南印度人口中风。该研究包括了250名缺血性中风患者和250名对照。中风患者根据TOAST分类进行亚型分类。在研究人群中,SNP 83与中风显着相关,而SNP 87和32是单态的。发现另外的SNP 83与两种中风亚型显着相关,即颅内大动脉粥样硬化(人群中最常见的亚型)和小动脉闭塞。发现与其他亚型的关联不重要。此外,发现SNP 83与一些常规的中风危险因素如糖尿病和吸烟显着相关。

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