Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Mol Cell Biochem. 2013 Jul;379(1-2):77-85. doi: 10.1007/s11010-013-1629-3. Epub 2013 Mar 28.
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.
代谢综合征（MetS）是一种常见的多因素疾病，涉及腹部肥胖、血脂异常、高血压和高血糖。全基因组关联研究已经确定了 9 号染色体上的一个主要冠心病和心肌梗死风险位点 21。在这里，我们检查了土耳其 MetS 患者样本中染色体 9p21 上的单核苷酸多态性（SNP）的频率，并进一步研究了区域 SNP、单倍型与 MetS 的相关性。实时聚合酶链反应（RT-PCR）用于分析 291 例 MetS 患者和 247 例对照中 4 个 SNP（rs10757274A/G、rs2383207A/G、rs10757278A/G、rs1333049C/G）。分析 4 个 SNP 显示 rs2383207、rs10757278 和 rs1333049 的基因型分布在 MetS 患者和对照组之间存在显著差异（p=0.041、p=0.005、p=0.023），但 rs10757274 无差异（p=0.211）。MetS 和对照组 rs2383207、rs10757278 和 rs1333049 的等位基因频率存在统计学差异（p<0.05）。rs2383207AG 变异被确定为 MetS 危险因素（p=0.012，OR=33.271；95%CI：2.193-504.805），1 块的 AA 单倍型和 2 块的 GC、AG 单倍型与 MetS 相关（χ(2)=3.875，p=0.049；χ(2)=9.334，p=0.0022；χ(2)=9.134，p=0.0025）。在这项研究中，我们发现染色体 9p21SNPrs10757278 及相关单倍型与 MetS 风险相关。这是第一个报告表明 9p21 变异与 MetS 之间存在关联的报告，并表明 rs10757278 多态性可能增加疾病风险。
