Association of SNP41, SNP56 and a novel SNP in PDE4D gene with stroke and its subtypes

• Published in: Gene 2012-09, Vol.506 (1), p.31-35
• Main Authors: Munshi, Anjana, Roy, Sitara, Thangaraj, Kumarasamy, Kaul, Subash, Babu, M. Sai, Jyothy, Akka
• Format: Article
• Language: English
• Subjects: Adult; Aged; atherosclerosis; Atherosclerosis - complications; Atherosclerosis - enzymology; Atherosclerosis - genetics; Base Sequence; Case-Control Studies; Cyclic Nucleotide Phosphodiesterases, Type 3 - genetics; Cyclic Nucleotide Phosphodiesterases, Type 4; Embolism - complications; Embolism - enzymology; Embolism - genetics; Female; Gene Frequency; genes; Genetic Association Studies; genotype; Heart Diseases - complications; Heart Diseases - enzymology; Heart Diseases - genetics; Heterozygote; Homozygote; Humans; India; Ischemic stroke; Male; Middle Aged; Novel SNP; pathogenesis; patients; Phosphodiesterase 4D; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; risk; Single nucleotide polymorphism; stroke; Stroke - classification; Stroke - enzymology; Stroke - etiology; Stroke - genetics; Stroke subtypes; Stroke, Lacunar - enzymology; Stroke, Lacunar - genetics
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.06.079

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); pG 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. ► We evaluated the association of variants of PDE4D gene with ischemic stroke. ► SNP41 and SNP56 associated significantly with the disease. ► A novel SNP was found but did not associate with the disease.