本文選題：雙生子 + 遺傳度　； 參考：《青島大學》2010年博士論文

【摘要】： 目的分別探討遺傳和環境因素對成年雙生子血尿酸和體質指數(BMI)水平的作用；驗證血尿酸和BMI表型之間是否受到共同遺傳和／或共同環境因素的作用。 方法本研究從青島市雙生子注冊系統中募集所需雙生子。測量身高、體重和血尿酸,并計算BMI。相同性別和血型的雙生子采用16個多態標記進行卵型鑒定。應用SPSS11.0軟件及Mx軟件進行數據處理,通過構建結構方程模型,校正性別和年齡,分析血尿酸和BMI表型的遺傳度。然后計算血尿酸和BMI表型相關和雙生子間血尿酸和BMI表型間的相關系數,構建雙變量Cholesky分解模型,校正性別和年齡后,進行最佳模型模擬計算血尿酸和BMI表型的遺傳相關。 結果共收集24歲以上的成年雙生子679對,其中同卵雙生子413對,異卵雙生子266對。血尿酸原始值描述為271.6±69.5μmol/L,BMI為24.19±3.25kg/m2。將血尿酸和BMI進行相關的轉換后,校正性別和年齡,構建結構方程模型模擬,血尿酸和BMI的的最佳模型均為AE模型,加性遺傳因素和特殊環境因素共同作用血尿酸和BMI指數的水平。血尿酸的遺傳度為71.2%(95%的可信區間：66.6%-75.2%),BMI的遺傳度為76.6%(95%的可信區間：72.7%-80.0%)。血尿酸和BMI的相關為0.302,經年齡和性別校正后相關系數0.276。經雙變量Cholesky分解模型模擬,最佳模型為拋去共享環境方差和協方差的模型,血尿酸和BMI的遺傳相關為0.26(95%可信區間：0.17-0.36),提示有共同的基因作用于這兩個指標(基因多效性)。血尿酸和BMI表型的觀測值相關由遺傳相關造成的為69.6%。對于血尿酸來說,只有5%的基因與BMI表型共享。 結論血尿酸和BMI表型主要是受遺傳因素的作用。成年雙生子血尿酸和BMI表型存在遺傳相關,有部分基因作用于血尿酸的基礎上,同時還影響BMI的水平,但是表型遺傳效應主要還是來自各自特異的遺傳效應。
[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 鹵69.5 渭 mol / L = 24.19 鹵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.
【學位授予單位】：青島大學
【學位級別】：博士
【學位授予年份】：2010
【分類號】：R394

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