Wang Hongbing, Yin Fangna, Gao Junwei, Fan Xiaotang
Department of Radiotherapy Oncology, Cangzhou Central Hospital, Cangzhou, China.
Clinical Laboratory, Cangzhou Central Hospital, Cangzhou, China.
Front Psychiatry. 2019 Feb 13;10:51. doi: 10.3389/fpsyt.2019.00051. eCollection 2019.
Recently, many case-control studies have reported the association between 5-HTTLPR polymorphism and autism risk. However, the results are inconclusive and conflicting. To investigate the genetic association of 5-HTTLPR polymorphism and autism risk, we conducted a comprehensive meta-analysis based on previous case-control studies. Literature search was performed through PubMed, Embase, Web of Knowledge and CNKI databases until June 27, 2018. The strength of the association was assessed by relative risk (RR) and its corresponding 95% confidence interval (CI). Fixed or random effect model was selected based on the results of heterogeneity test. Further, subgroup analyses were conducted to explore the association of 5-HTTLPR polymorphism and autism risk in different population. Eleven studies with 930 cases and 1234 controls were identified. Although there was a significant association between 5-HTTLPR polymorphism and autism risk under the dominant model after removing the studies causing heterogeneity, the significance did not exist after Bonferroni's correction. Subgroup analyses also showed similar results after Bonferroni's correction. In addition, there was no obvious publication bias in our meta-analysis. Our present meta-analysis does not support a direct effect of 5-HTTLPR polymorphism on autism risk according to present results. Further analyses of the effect of genetic networks and more well designed studies with larger sample size are required.
最近，许多病例对照研究报告了5-羟色胺转运体基因连锁多态性区域（5-HTTLPR）多态性与自闭症风险之间的关联。然而，结果尚无定论且相互矛盾。为了研究5-HTTLPR多态性与自闭症风险之间的遗传关联，我们基于之前的病例对照研究进行了一项全面的荟萃分析。通过PubMed、Embase、Web of Knowledge和中国知网数据库进行文献检索，截至2018年6月27日。关联强度通过相对风险（RR）及其相应的95%置信区间（CI）进行评估。根据异质性检验结果选择固定效应模型或随机效应模型。此外，进行亚组分析以探讨5-HTTLPR多态性与不同人群自闭症风险之间的关联。共纳入11项研究，包括930例病例和1234例对照。尽管在去除导致异质性的研究后，在显性模型下5-HTTLPR多态性与自闭症风险之间存在显著关联，但经Bonferroni校正后该显著性不存在。亚组分析在Bonferroni校正后也显示出类似结果。此外，我们的荟萃分析中没有明显的发表偏倚。根据目前的结果，我们目前的荟萃分析不支持5-HTTLPR多态性对自闭症风险有直接影响。需要进一步分析遗传网络的作用以及开展更多设计更完善、样本量更大的研究。
