| Institution: | 1. Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Islamabad, 45600, Pakistan;2. Rawalpindi Institute of Cardiology, Rawalpindi, 46000, Pakistan;3. Department of Cardiology, Benazir Bhutto Hospital, Murree Road, Rawalpindi, 46000, Pakistan;4. Shifa College of Medicine, Shifa Tameer-e-Millat University, Pitras Bokhari Road, H-8/4, Islamabad, 44000, Pakistan;5. Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60000, Pakistan |
| Abstract: | Single nucleotide polymorphisms (SNPs) of non-coding RNA in the INK4 locus (ANRIL) have been found to be associated with myocardial infarction (MI). However, the effect of rs1333049:C>G in INK4 locus in familial hypercholesterolemia patients and on lipid profile of the patients has not been studied in Pakistan. We therefore investigated the association of SNP rs1333049:C>G with MI as well as familial hypercholesterolemia patients and also determined the effect of genotype on lipid levels in a northern Pakistani population. A case–control association study was performed in which 611 individuals (294 patients, 290 healthy controls and 27 patients from hypercholesterolemia families) were genotyped for rs1333049:C>G, using an Allele specific polymerase chain reaction. We found a significant association of rs1333049:C>G with MI (χ2 = 22.3, p < 0.001). The frequency of risk genotype CC was significantly different from the healthy controls (p < 0.001, χ2 = 22.3). The risk allele C was at a higher frequency in the MI patients as compared to the controls (odds ratio OR] = 1.55 (95% confidence interval CI] = 1.22–1.96), p < 0.001). The logistic regression analysis for the genotype distribution resulted in strong association of risk allele C with MI under recessive model (OR = 3.17 (95% CI = 1.85–5.44) p < 0.001). When the data were further analyzed along the lines of gender, a significant association with both males and females was observed. |
