天津医药

天津医药 ›› 2021, Vol. 49 ›› Issue (2): 212-218.doi: 10.11958/20202256

• 循证医学 • 上一篇    下一篇

MTHFR C677T基因多态性与孤独症谱系障碍易感性关系的Meta分析 #br#

张宇昕，盖聪，杨璐平，马浩洁，张锦坤，孙红梅，胡蝶
  

  1. 北京中医药大学中医学院（邮编102488）
  • 收稿日期:2020-08-11 修回日期:2020-11-25 出版日期:2021-02-15 发布日期:2021-02-02
  • 通讯作者: 孙红梅 E-mail:hongmei_sun@yeah.net
  • 基金资助:
    国家自然科学青年基金;北京中医药大学新教师启动基金

Association between MTHFR gene polymorphism and susceptibility to autism spectrum disorders: a meta-analysis

ZHANG Yu-xin, GAI Cong, YANG Lu-ping, MA Hao-jie, ZHANG Jin-kun, SUN Hong-mei, HU Die #br#   

  • Received:2020-08-11 Revised:2020-11-25 Published:2021-02-15 Online:2021-02-02

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摘要： 目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因多态性与孤独症谱系障碍（ASD）易感性的关系。方法
检索中国知网、万方数据、PubMed、Embase、Proquest、Web of science等数据库，收集MTHFR C677T基因多态性与ASD
关联的病例对照研究，检索时间至2020年6月30日。应用Stata 14.0软件进行Meta分析。结果 共纳入16篇文献，
其中病例组2 149例，对照组2 251例。Meta分析结果显示在等位基因模型（T vs. C，OR=1.51，95%CI：1.15~1.99，P=
0.003）、显性模型（TT+CT vs. CC，OR=1.67，95%CI：1.21~2.29，P=0.002）中，MTHFR C677T多态性与ASD发生具有相关
性。而在隐性模型（TT vs. CT+CC，OR=1.20，95%CI：0.82~1.76，P=0.340）和纯合子模型（TT vs. CC，OR=1.43，95%CI：
0.92~2.22，P=0.113）中MTHFR C677T多态性与ASD易感性无关。种族亚组分析显示，高加索人MTHFR C677T多态
性仅在显性模型（OR=1.30，95%CI：1.04~1.63，P=0.024）中与 ASD 发生相关，而亚洲人在等位基因模型（OR=1.85，
95%CI：1.13~3.01，P=0.014）和显性模型（OR=1.99，95%CI：1.18~3.36，P=0.010）中和 ASD 发病有关。 结论MTHFR
C677T基因多态性与ASD易感性相关。

关键词: 孤独症谱系障碍, 亚甲基四氢叶酸还原酶（NADPH）, 多态性, 单核苷酸, Meta分析

Abstract: ObjectiveTo investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene
polymorphism and susceptibility to autism spectrum disorders (ASD). MethodsThe relevant studies on MTHFR gene
C677T polymorphism and susceptibility to ASD databases until June 30, 2020 were searched in databases of CNKI, Wanfang
data, PubMed, Embase, Proquest and Web. Meta-analysis was conducted by using STATA 14.0. ResultsA total of 16
articles were included, including 2 149 cases in the case group and 2 251 cases in the control group. Meta-analysis showed
that MTHFR C677T polymorphism was significantly associated with an increased risk of autism in the allelic model (T vs. C,
OR=1.51, 95%CI: 1.15-1.99，P=0.003) and dominant genetic model (TT+CT vs. CC, OR=1.67, 95%CI: 1.21-2.29, P=
0.002). Analysis of ethnic subgroups showed that the MTHFR C677T polymorphism of Caucasians was closely related to the
occurrence of autism only in the dominant genetic genotype (OR=1.30, 95%CI: 1.04-1.63，P=0.024), while the Asians were
related in both the allelic model (OR=1.85, 95%CI: 1.13-3.01, P=0.014) and the dominant genetic model (OR=1.99，95%CI:

1.18-3.36，P=0.010). Conclusion
susceptibility to ASD. 		The MTHFR C677T gene polymorphism is significantly associated with the

Key words: autism spectrum disorder, methylenetetrahydrofolate reductase (NADPH2), polymorphism, single nucleotide,  Meta analysis

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