Abstract
Metabolic syndrome (MetS) is a common multifactorial disorder that involves abdominal obesity, dyslipidemia, hypertension, and hyperglycemia. Genome-wide association studies have identified a major risk locus for coronary artery disease and myocardial infarction on chromosome 9p21. Here, we examined the frequency of single nucleotide polymorphisms (SNPs) on chromosome 9p21 in a sample of Turkish patients with MetS and further investigated the correlation between regional SNPs, haplotypes, and MetS. The real-time polymerase chain reaction (RT-PCR) was used to analyze 4 SNPs (rs10757274 A/G, rs2383207 A/G, rs10757278 A/G, rs1333049 C/G) in 291 MetS patients and 247 controls. Analysis of 4 SNPs revealed a significant difference in the genotype distribution for rs2383207, rs10757278, and rs1333049 between MetS patients and controls (p = 0.041, p = 0.005, p = 0.023, respectively) but not for rs10757274 (p = 0.211). MetS and control allelic frequencies for rs2383207, rs10757278, and rs1333049 were statistically different (p < 0.05). The rs2383207 AG variant, was identified as a MetS risk factor (p = 0.012, OR = 33.271; 95 % CI: 2.193–504.805) and the AA haplotype in block 1 and the GC, AG haplotypes in block 2 were associated with MetS (χ 2 = 3.875, p = 0.049; χ 2 = 9.334, p = 0.0022; χ 2 = 9.134, p = 0.0025, respectively). In this study, we found that chromosome 9p21 SNP rs10757278 and related haplotypes correlate with MetS risk. This is the first report showing an association between a 9p21 variant and MetS and suggests that rs10757278 polymorphism may confer increased risk for disease.
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Acknowledgments
This work was supported by Scientific Research Projects Coordination Unit of Istanbul University. Project number 4060. The preliminary findings of this study were presented at the 4th International Congress of Molecular Medicine, June 27–30, 2011, Istanbul, Turkey [37].
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Bayoglu, B., Cakmak, H.A., Yuksel, H. et al. Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome. Mol Cell Biochem 379, 77–85 (2013). https://doi.org/10.1007/s11010-013-1629-3
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DOI: https://doi.org/10.1007/s11010-013-1629-3