RESUMEN
BACKGROUND: Cardiovascular disease (CVD) has emerged as the most prevalent cause of death in India. Pro-protein Convertase Subtilisin/Kexin Type 9 (PCSK9) gene has been found to be associated with lipid levels and a biomarker for susceptibility of CVD. AIM: To study the association of PCSK9 SNPs rs505151 & rs562556 and their haplotypes with CVDs in the Indian population. SUBJECTS & METHODS: The present study comprised of 102 angiographically proven CVD patients & 100 healthy subjects. To study polymorphism, Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) method was used. Biochemical parameters were analysed by enzymatic methods or automated analysers. Haplotype analysis was done using SHEsis software. RESULTS: The dominant genetic model with an odds ratio (confidence interval) of 4.71 (2.59 - 8.5), (p value = .0001), shows the risk of CVDs. However, rs562556 (I474V) variant was not found to be associated with clinical parameters and risk of CVDs (p value >.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137, p value = .0001). CONCLUSION: This study concludes that G allele of rs505151 SNP (PCSK9) and the H3 (G-A) haplotype of rs505151 & rs562556 were found to be risk factors for CVDs in the Indian population.
Asunto(s)
Enfermedades Cardiovasculares , Proproteína Convertasa 9 , Humanos , Proproteína Convertasa 9/genética , Haplotipos , Polimorfismo de Nucleótido Simple , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/genética , Subtilisina/genética , LDL-ColesterolRESUMEN
Purpose: DPP-IV is a ubiquitously expressed cell surface protein that can be presented in soluble forms. It has recently gained medical importance as its inhibitors are widely being used as treatment of T2DM. The present research aims to resolve whether genetic variants of DPP-IV have association with susceptibility to T2DM. Method: Two variants of DPP-IV were detected in 100 controls and 100 T2DM by PCR-RFLP technique. Demographic characteristics were recorded. Clinical characteristics were analyzed by enzymatic method. Statistical analysis was performed using SPSS-21. Results: Demographic and clinical characteristics differ significantly between two groups. The genetic variation in SNP rs3788979 and SNP rs7608798, both in case and control, were in accordance with Hardy-Weinberg Equilibrium (p value > 0.05). Both SNPs rs3788979 and rs7608798 were significantly related to T2DM (p- < 0.05). Minor G allele of rs3788979 was linked with the susceptibility of T2DM (p-value-0.000; OR- 4.235). T allele of SNP rs7608798 conferred the risk of diabetes with OR-2.235. Conclusion: This is the first attempt to investigate the association of DPP-IV gene with T2DM in Indian population. The finding of study concludes that genetic variation in DPP-IV gene may considerably increase the risk of developing T2DM.