11q24.1基因组区域的多态性与近视相关：一项针对中国和日本人群的综合遗传学研究。
Polymorphism in the 11q24.1 genomic region is associated with myopia: a comprehensive genetic study in Chinese and Japanese populations.
作者信息
Liu Jie, Zhang Hong-xin
机构信息
Shanghai Institute of Orthopaedics and Traumatology, Shanghai Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Shanghai Institute of Hematology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, China.
出版信息
Mol Vis. 2014 Mar 21;20:352-8. eCollection 2014.
PURPOSE
To evaluate the association of polymorphisms in the 11q24.1 genomic region and the CTNND2 gene with myopia.
METHODS
We conducted a comprehensive meta-analysis included 6,954 cases and 9,346 controls. Odds ratios (ORs) were calculated using Carlin's method. Publication bias was assessed using Egger et al.'s approach. Sensitivity, heterogeneity, and trim and fill analyses were also conducted.
RESULTS
For the 11q24.1 genomic region, the rs11218544 polymorphism showed significant association with myopia [OR and 95% confidence interval (CI): 1.167 (1.032-1.319), p=0.013], while rs577948 showed no association with the disease [OR and 95%CI: 0.988 (0.727-1.342), p=0.936]. For the CTNND2 gene, neither rs6885224 nor rs12716080 was significantly associated with myopia {rs6885224: [OR and 95%CI: 1.051 (0.795-1.391), p=0.725], rs12716080: [OR and 95%CI: 1.173 (0.990-1.390), p=0.065]}.
CONCLUSIONS
Our study indicated that the 11q24.1 genomic region, and particularly the rs11218544 polymorphism, has a genetic association with the development of myopia.
目的
评估11q24.1基因组区域及CTNND2基因的多态性与近视的关联。
方法
我们进行了一项综合荟萃分析，纳入6954例病例和9346例对照。采用卡林方法计算比值比（OR）。使用埃格等人的方法评估发表偏倚。还进行了敏感性、异质性以及修剪和填充分析。
结果
对于11q24.1基因组区域，rs11218544多态性与近视存在显著关联[OR及95%置信区间（CI）：1.167（1.032 - 1.319），p = 0.013]，而rs577948与该疾病无关联[OR及95%CI：0.988（0.727 - 1.342），p = 0.936]。对于CTNND2基因，rs6885224和rs12716080均与近视无显著关联{rs6885224：[OR及95%CI：1.051（0.795 - 1.391），p = 0.725]，rs12716080：[OR及95%CI：1.173（0.990 - 1.390），p = 0.065]}。
结论
我们的研究表明，11q24.1基因组区域，尤其是rs11218544多态性，与近视的发生存在遗传关联。
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