血尿酸与BMI表型遗传度的双生子研究

发布时间：2018-06-15 15:58

本文选题：双生子 + 遗传度　；参考：《青岛大学》2010年博士论文

【摘要】： 目的分别探讨遗传和环境因素对成年双生子血尿酸和体质指数(BMI)水平的作用；验证血尿酸和BMI表型之间是否受到共同遗传和／或共同环境因素的作用。方法本研究从青岛市双生子注册系统中募集所需双生子。测量身高、体重和血尿酸,并计算BMI。相同性别和血型的双生子采用16个多态标记进行卵型鉴定。应用SPSS11.0软件及Mx软件进行数据处理,通过构建结构方程模型,校正性别和年龄,分析血尿酸和BMI表型的遗传度。然后计算血尿酸和BMI表型相关和双生子间血尿酸和BMI表型间的相关系数,构建双变量Cholesky分解模型,校正性别和年龄后,进行最佳模型模拟计算血尿酸和BMI表型的遗传相关。结果共收集24岁以上的成年双生子679对,其中同卵双生子413对,异卵双生子266对。血尿酸原始值描述为271.6±69.5μmol/L,BMI为24.19±3.25kg/m2。将血尿酸和BMI进行相关的转换后,校正性别和年龄,构建结构方程模型模拟,血尿酸和BMI的的最佳模型均为AE模型,加性遗传因素和特殊环境因素共同作用血尿酸和BMI指数的水平。血尿酸的遗传度为71.2%(95%的可信区间：66.6%-75.2%),BMI的遗传度为76.6%(95%的可信区间：72.7%-80.0%)。血尿酸和BMI的相关为0.302,经年龄和性别校正后相关系数0.276。经双变量Cholesky分解模型模拟,最佳模型为抛去共享环境方差和协方差的模型,血尿酸和BMI的遗传相关为0.26(95%可信区间：0.17-0.36),提示有共同的基因作用于这两个指标(基因多效性)。血尿酸和BMI表型的观测值相关由遗传相关造成的为69.6%。对于血尿酸来说,只有5%的基因与BMI表型共享。结论血尿酸和BMI表型主要是受遗传因素的作用。成年双生子血尿酸和BMI表型存在遗传相关,有部分基因作用于血尿酸的基础上,同时还影响BMI的水平,但是表型遗传效应主要还是来自各自特异的遗传效应。
[Abstract]:Objective to investigate the effects of genetic and environmental factors on serum uric acid and body mass index (BMI) levels in adult twins, and to verify whether the phenotypes of serum uric acid and BMI are affected by common genetic and / or environmental factors. Methods in this study, the required twins were collected from Qingdao twin registration system. Height, weight and uric acid were measured and BMIs were calculated. Twins of the same sex and blood type were identified by 16 polymorphic markers. SPSS 11.0 and Mx software were used to analyze the heritability of blood uric acid and BMI by constructing a structural equation model to correct gender and age. Then the correlation coefficient between serum uric acid and BMI phenotype and the correlation coefficient between serum uric acid and BMI among twins were calculated, and a bivariate Cholesky decomposition model was constructed. After sex and age were adjusted, the genetic correlation between serum uric acid and BMI phenotype was simulated by the best model. Results A total of 679 pairs of adult twins over 24 years old were collected, including 413 pairs of identical twins and 266 pairs of heterozygote twins. The original value of serum uric acid was 271.6 卤69.5 渭 mol / L = 24.19 卤3.25 kg / m ~ (2). After the conversion of serum uric acid and BMI, sex and age were adjusted, and structural equation models were constructed. The best models of serum uric acid and BMI were AE models. The levels of serum uric acid and BMI were influenced by additive genetic factors and special environmental factors. The heritability of serum uric acid was 71.2%. The heritability of BMI was 76.6- 75.2%. The heritability of BMI was 76.66.695%. The heritability was 72.7- 80.0. The correlation between serum uric acid and BMI was 0.302, and the correlation coefficient was 0.276 after age and sex adjustment. Based on the bivariate Cholesky decomposition model, the best model is the model that discards the shared environmental variance and covariance. The genetic correlation between uric acid and BMI is 0.2695% confidence interval: 0.17-0.36, which indicates that there is a common gene acting on these two indexes. The correlation between the observed values of uric acid and BMI phenotypes was 69. 6% due to genetic correlation. For serum uric acid, only 5% of genes are shared with BMI phenotypes. Conclusion the phenotypes of serum uric acid and BMI are mainly affected by genetic factors. There is a genetic correlation between serum uric acid and BMI phenotypes in adult twins. Some genes act on serum uric acid and also affect BMI level, but the phenotypic genetic effects are mainly from their specific genetic effects.
【学位授予单位】：青岛大学
【学位级别】：博士
【学位授予年份】：2010
【分类号】：R394

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