Association of SNP 83 in PDE4D gene with the risk of ischemic stroke and its subtypes in the Malwa region of Punjab
Stroke is the leading cause of disability and the third cause of death in developed countries; an estimated 5.7 million people die of stroke annually worldwide. It is a multifactorial disorder that is influenced by both environmental and genetic factors. Although the etiology and mechanisms of stroke have not been well understood, studies have confirmed that high blood pressure, poor diet, smoking, obesity, and lack of physical activities are common risk factors associated with 80% of all strokes. In addition to these factors, genetic factors have been suggested to play a major role in stroke risk. One widely studied candidate gene is phosphodiesterase 4D (PDE4D), which was identified via genome-wide association studies (GWAS).Numerous studies found that PDE4D was associated with ischemic stroke and, in particular, with cardio-embolic stroke among Whites and Blacks. Inconsistency among research findings might be caused by different allele frequencies across study populations, particularly in different ethnic and geographical groups. In the present study, the association between SNP 83 of PDE4D and ischemic stroke and its subtypes in the Malwa region of Punjab was taken up. Samples from 75 ischemic stroke patients and 75 controls were collected into suitable vacutainers, DNA was isolated using standard phenol-chloroform method, PCR amplification of the product was done, and RFLP performed. There was statistically significant difference in the genotypic distribution between patients and controls [for CC vs. TT, χ2=3.339; p=0.01; odds ratio = 5.25 (95% CI; 1.032-26.71)]; for CC vs. TT+CT, [χ2 =1.89; p = 0.04, odds ratio = 3.757 (95% CI; 0.754–18.72)].
Keywords: Ischemic stroke, SNP 83, PDE4D, Malwa region