青少年双生子血尿酸的遗传度研究_医学论文.docVIP

青少年双生子血尿酸的遗传度研究_医学论文 青少年双生子血尿酸的遗传度研究_医学论文 作者：段海平 逄增昌 张栋 汪韶洁 翟耀明 张东峰 【摘要】 目的 用双生子研究方法对青少年血尿酸的遗传度进行估计。方法 取青岛双生子库募集青少年双生子，测量身高、体质量和血尿酸。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。通过校正年龄、性别和体质指数(BMI)来构建结构方程模型估计遗传度。结果 共收集521对双生子数据，其中同卵双生子274对，异卵双生子247对。经平方根转换后，男性血尿酸水平略高于女性(t=5.584，0.001)，通过校正年龄、性别和BMI后双生子血尿酸的组内相关系数同卵双生子为0.80，异卵双生子为0.46。运用性别限制模型进行拟合，最佳模型为AE模型，加性遗传因素和特殊环境因素共同作用血尿酸的水平。血尿酸的遗传度为77.5%(95%CI为0.731～0.811)，特殊环境因素占22.5%(95%CI为0.189～0.269)。结论 遗传因素是影响本研究样本双生子血尿酸水平的主要因素。 【关键词】 双生子尿酸遗传青少年 [ABSTRACT] Objective To assess the heritability of serum uric acid in adolescent using the classic twin design. MethodsAdolescent twins were recruited from the Qingdao Twin Registry. Their uric acid, height, weight were measured. Zygosity in all samesex and samebloodgroup twin pairs was determined by 16 polymorphic markers. Heritability was assessed by structuralequation models, with age, gender and body mass index (BMI) included as covariate. Results A total of 521 twin pairs wereavailable for data analyses, including 274 pairs of monozygotic twins and 247 pairs of dizygotic. After square root transformed, uric acid in male was significantly higher than in female (t=5.584,0.0001). After age, sex and BMI adjustment, intraclass correlations for uric acid were 0.80 for monozygotic twins and 0.46 for dizygotic. A sexlimitation AE model combining additive genetic and unique environmental factors produced the best fit for the data. Heritability estimates for uric acid were 77.5% (95% confidence interval: 0.731-0.811. Unique environmental effects explained 22.5% (95% confidence interval: 0.189-0.269). Conclusion Genetic factors are the main factors that influence the variation of uric acid in twin samples of this study. 　　[KEY WORDS] twins uric acid heritability adolescent 　　尿酸是人类嘌呤代谢的终产物，其水平受人体尿酸的产生和代谢调控。高尿酸血症(血清浓度男性gt420 μmol/L,女性gt350 μmol/L)是由于各种原因引起体内尿酸增多或排泄减少而导致的一种代谢性疾病。尿酸结晶沉积到软组织所致的急性或慢性病变称为痛风，大约有10%～20%的高尿酸血症病人会引起痛风。高尿酸血症本身虽然不会产生临床症状，但却损害人体的重要器官。目前已把高尿酸血症及痛风列入代谢综合征的一个表现[1]。近期许多研究均表明，高尿酸血症与