Yuan Qinghua, Xie Xiang, Fu Zhenyan, Ma Xiang, Yang Yining, Huang Ding, Liu Fen, Dai Chuanfang, Ma Yitong
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, PR China ; Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi 830054, PR China.
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, PR China.
Meta Gene. 2014 Jul 31;2:514-24. doi: 10.1016/j.mgene.2014.06.001. eCollection 2014 Dec.
MLL5, a member of the histone-lysine N-methyltransferase family, has been implicated in the control of the cell cycle progression and survival. The aim of this study was to explore the relationship between the interaction of histone-lysine N-methyltransferase MLL5 gene polymorphism and CAD in a Chinese Han population.
Using a case-control study of Chinese CAD patients (n = 565) and healthy controls (n = 694), we investigated the MLL5 gene polymorphism by the use of polymerase chain reaction fragment length polymorphism (PCR-RFLP) analysis.
For total, the distribution of SNP1 (rs12671368) and SNP2 (rs2192932) genotypes showed a significant difference between CAD and control participants (P1 = 0.03, P2 = 0.02). For total the distribution of SNP1 (rs12671368) and SNP2 (rs2192932) alleles in the dominant model (GG vs. AA + AG) and the recessive model (AA vs. AG + GG) showed a significant difference between CAD and control participants (for allele: P1 < 0.01 and P2 = 0.05, for dominant model: P1 > 0.05 and P2 = 0.02, for recessive model: P1 = 0.03 and P2 = 0.78, respectively). For total the significant difference of the distribution of SNP1 and SNP2 in the dominant model and recessive model was retained after adjusting for covariates (for dominant model: SNP1 OR: 1.68, 95% confidence interval [CI]: 1.08-2.64, P = 0.02; SNP2 OR: 0.51, 95% CI: 0.36-0.72, P = 0.01; for recessive model: SNP1 OR: 1.84, 95% confidence interval [CI]: 1.28-2.64, P < 0.01; SNP2 OR: 0.65, 95% CI: 0.35-1.22, P = 0.18).
The GG genotype of rs12671368 and the AA genotype of rs2192932 in the MLL5 gene could be protective genetic markers of CAD.
MLL5是组蛋白赖氨酸N-甲基转移酶家族成员，与细胞周期进程调控及细胞存活有关。本研究旨在探讨中国汉族人群中组蛋白赖氨酸N-甲基转移酶MLL5基因多态性与冠心病（CAD）之间的关系。
采用病例对照研究，纳入中国CAD患者（n = 565）和健康对照者（n = 694），通过聚合酶链反应片段长度多态性（PCR-RFLP）分析研究MLL5基因多态性。
总体而言，CAD患者与对照者之间SNP1（rs12671368）和SNP2（rs2192932）基因型分布存在显著差异（P1 = 0.03，P2 = 0.02）。总体而言，在显性模型（GG vs. AA + AG）和隐性模型（AA vs. AG + GG）中，CAD患者与对照者之间SNP1（rs12671368）和SNP2（rs2192932）等位基因分布存在显著差异（等位基因：P1 < 0.01，P2 = 0.05；显性模型：P1 > 0.05，P2 = 0.02；隐性模型：P1 = 0.03，P2 = 0.78）。总体而言，在调整协变量后，显性模型和隐性模型中SNP1和SNP2分布的显著差异仍然存在（显性模型：SNP1优势比（OR）：1.68，95%置信区间（CI）：1.08 - 2.64，P = 0.02；SNP2 OR：0.51，95% CI：0.36 - 0.72，P = 0.01；隐性模型：SNP1 OR：1.84，95% CI：1.28 - 2.64，P < 0.01；SNP2 OR：0.65，95% CI：0.35 - 1.22，P = 0.18）。
MLL5基因中rs12671368的GG基因型和rs2192932的AA基因型可能是CAD的保护性遗传标记。
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