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Association of SNP41, SNP56 and a novel SNP in PDE4D gene with stroke and its subtypes
Authors:Anjana Munshi  Sitara Roy  Kumarasamy Thangaraj  Subash Kaul  M. Sai Babu  Akka Jyothy
Affiliation:1. Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad-500016, India;2. Dr. NTR University of Health Sciences, Vijayawada, Andhra Pradesh-520001, India;3. Centre for Cellular and Molecular Biology-CSIR, Hyderabad-500007, India;4. Nizams Institute of Medical Sciences, Punjagutta, Hyderabad-500082, India
Abstract:An association between phosphodiesterase 4D (PDE4D) gene and risk of stroke has been suggested by deCODE group in an Icelandic population. In the present case–control study we investigated the association of SNP41 (rs12153798) and SNP56 (rs702553) with ischemic stroke and stroke subtypes. Five hundred and sixteen ischemic stroke patients and 513 healthy age and sex matched controls were included in the study. The genotypes were determined by subjecting the PCR products to sequencing. Both the SNPs 56 and 41 associated significantly with stroke [adjusted OR = 1.97; 95% CI (1.262–3.082); p = 0.003: adjusted OR = 5.42; 95% CI (3.45–8.5); p < 0.001 respectively]. In addition to this, a novel SNP at position 59736747 T > G was found while sequencing the PCR products including SNP56. This novel SNP was found in patients as well as controls but did not show a significant association with the disease. We found significant association of SNPs 56 and 41 with large artery atherosclerosis, lacunar and cardioembolic stroke. In conclusion PDE4D gene plays a key part in the pathogenesis of ischemic stroke in the South Indian population from Andhra Pradesh.
Keywords:PDE4D, phosphodiesterase 4D   SNP, single nucleotide polymorphism   PCR, polymerase chain reaction   cAMP, cyclic adenosine monophosphate   CT, computed tomography   MRI, magnetic resonance imaging   TOAST, trial of org 10172 in acute stroke treatment   CI, confidence interval   OR, odds ratio   HDL, high density lipoprotein   CREB, cAMP-response element-binding protein   A.P., Andhra Pradesh   EDTA, ethylenediaminetetraacetic acid   SPSS, statistical package for the social sciences
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