Background: Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). This study was carried out to investigate the association of these polymorphisms and CHD in an Iranian population.
Methods: In the present case-control study, 420 patients with CHD events were recruited from the population of the Tehran lipid and glucose study (TLGS); 407 healthy controls matched for age and sex were selected from the same population. The SNPs rs12526453 and rs7865618 were genotyped using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).
Results: The allele frequency of both SNPs deviated from Hardy-Weinberg equilibrium. The C allele frequency of the rs12526453 (68.5%, P = 0.11) and A allele of the rs7865618 (68.8%, P = 0.09) were the most prevalent alleles in both the case and control groups. The results indicated a significant association between the presence of risk alleles of rs7865618 and CHD in the TLGS population (P = 0.03; OR: 1.73; CI95%: 1.04 - 2.88).
Conclusion: Due to the importance of chromosome 9p21 region and its relation with cardiovascular disease, the allelic pattern of its variation should be studied in different populations. The relation between this polymorphism and cardiovascular disease in the studied population confirms the importance of this region.