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目的探讨ABCA1基因多态性及其与肥胖的交互作用在低HDL-C血症的作用。方法按照年龄和性别匹配方法,从5692名成年哈萨克族人中随机选取204例低HDL-C血症患者和207例对照者,用SNap Shot技术检测ABCA1基因rs2515602、rs2275542、rs2230806、rs1800976、rs4149313位点基因型。用非条件logistic回归分析各位点与肥胖的交互作用与低HDL-C血症的关系。结果 (1)病例组和对照组rs2515602、rs2230806和rs4149313位点基因型和等位基因频率分布存在差异(P<0.05)。(2)rs2515602、rs2230806、rs4149313位点变异和肥胖与低HDL-C血症有关(P<0.05)。(3)rs2515602、rs2230806、rs4149313位点变异与肥胖的交互作用增加机体患低HDL-C血症的风险。(4)rs2515602位点,TT基因型较CC/CT基因型HDL-C水平高(P<0.05)。rs2230806位点,GG基因型较AA/AG基因型HDL-C水平较高(P<0.05)。rs4149313位点,AA基因型较AG/GG基因型TC水平高,AA基因型较GG基因型LDL-C水平高,GG基因型HDL-C水平高于AA/AG基因型(P<0.05)。结论 ABCA1基因多态性与肥胖的交互作用与低HDL-C血症发病风险相关;ABCA1基因rs2515602、rs2230806和rs4149313位点多态性与血脂水平有关。
Objective To investigate the role of ABCA1 gene polymorphism and its interaction with obesity in low HDL-C hyperlipidemia. Methods A total of 204 low HDL-C sera and 207 controls were randomly selected from 5,692 adult Kazakhs according to the age and gender matching methods. SNAP Shot was used to detect the rs2515602, rs2275542, rs2230806, rs1800976 and rs4149313 sites of ABCA1 gene genotype. Non-conditional logistic regression analysis was used to analyze the association of each locus with obesity with low HDL-C. Results (1) The genotype and allele frequencies of rs2515602, rs2230806 and rs4149313 in case group and control group were different (P <0.05). (2) Locus variation and obesity of rs2515602, rs2230806 and rs4149313 were associated with low HDL-C (P <0.05). (3) The interaction between rs2515602, rs2230806, rs4149313 site mutation and obesity increased the risk of HDL-C in the body. (4) rs2515602 locus, TT genotype higher than CC / CT genotype HDL-C (P <0.05). rs2230806 locus, GG genotype was higher than AA / AG genotype HDL-C (P <0.05). The genotype of rs4149313 was higher in AA genotype than that in AG / GG genotype. The AA genotype was higher than GG genotype LDL-C, and the GG genotype HDL-C was higher than AA / AG genotype (P <0.05). Conclusion The interaction between ABCA1 gene polymorphism and obesity is related to the risk of developing low HDL-C. The genetic polymorphism of ABCA1 rs2515602, rs2230806 and rs4149313 is related to the level of serum lipids.