Association of SNP41, SNP56 and a novel SNP in PDE4D gene with stroke and its subtypes |
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Authors: | Anjana Munshi Sitara Roy Kumarasamy Thangaraj Subash Kaul M. Sai Babu Akka Jyothy |
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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 |
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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. |
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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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