骨形态发生蛋白7基因变异与新疆维吾尔族人群高甘油三酯血症相关

目的 探讨骨形态发生蛋白7(BMP7)基因变异与新疆维吾尔族人群血脂异常的关系.方法 选取1514例新疆维吾尔族人群作为研究对象.测序筛查BMP7基因功能区的变异位点,选取代表性变异位点应用TaqMan-PCR技术在大样本人群中进行基因型鉴定,并开展病例-对照关联研究.结果 在BMP7基因的功能区共发现5个新的和8个已知的变异位点.BMP7基因的2个代表性变异位点rs6025422、rs17480735均符合Hardy-Weinberg平衡.rs6025422变异的AA、AG、GG基因型在高甘油三酯血症组及对照组中的频率分布存在统计学差异(P=0.001),并且AA、AG、GG基因型的甘油三酯水平呈现递减趋势.应用logistic回归分析校正性别、年龄、体质指数、血压、吸烟及饮酒因素的影响后显示,rs6025422变异与高甘油三酯血症显著相关(OR:0.562,95%CI:0.393～0.802,P=0.002).结论 BMP7基因变异位点rs6025422可能与新疆维吾尔族人高甘油三酯血症相关.

Abstract：

Objective To analyze the association between the genetic variations of functional region in bone morphogenetic protein ( BMP7 ) gene and dyslipidemia in Chinese Uygur individuals. Methods The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia. Results Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from HardyWeinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group ( P = 0. 001 ). The levels of triglyceride (TG) showed a decreasing teadency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0. 562 by logistic regression analysis (95% CI: 0. 393 - 0. 802, P = 0. 002 ). Concluslon The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.

Genetic variations of bone morphogenetic protein 7 gene are associated with hypertriglyceridemia of Uygur Chinese in Xinjiang

Objective To analyze the association between the genetic variations of functional region in bone morphogenetic protein ( BMP7 ) gene and dyslipidemia in Chinese Uygur individuals. Methods The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia. Results Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from HardyWeinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group ( P = 0. 001 ). The levels of triglyceride (TG) showed a decreasing teadency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0. 562 by logistic regression analysis (95% CI: 0. 393 - 0. 802, P = 0. 002 ). Concluslon The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.