文章摘要

MTHFR基因C677T位点、5-HTTLPR基因多态性与汉族儿童孤独症的相关性

作者: 1张 会春, 1尚 清, 1高 超, 1耿 香菊
1 郑州大学附属儿童医院康复科,河南省儿童医院,郑州儿童医院,郑州 450000
通讯: 耿 香菊 Email: gengxiangjua@163.com
DOI: 10.3978/j.issn.2095-6959.2020.01.014
基金: 河南省医学科技攻关计划(201503236,201702323);河南省科技发展计划项目(182102310403)。

摘要

目的:探究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T位点及5-羟色胺转运体启动子(5-HTTLPR)基因多态性与汉族儿童孤独症之间的相关性。方法:选择2015年2月至2018年1月于郑州大学附属儿童医院康复科门诊就诊的68例孤独症患儿及100例同期查体的健康儿童作为研究对象,对两组儿童MTHFR基因C677T,5-HTTLPR基因多态性进行分析,比较不同组别儿童基因型差异及基因频率差异,分析基因与疾病的关系。结果:病例组MTHFR基因C677T位点TT型及CT型比例显著高于对照组(P<0.05);病例组T等位基因频率显著高于对照组(P<0.05);两组受试者5-HTTLPR位点基因型频率及基因频率比较差异无统计学意义(P>0.05);logistic回归分析示,MTHFR基因C677T位点在隐性遗传模型下与孤独症存在关联(P<0.05),在等位基因模型下与孤独症存在关联(P<0.05)。结论:MTHFR基因C677T位点多态性与孤独症相关,而5-HTTLPR位点多态性与儿童孤独症无明显相关性。
关键词: 亚甲基四氢叶酸还原酶;单核苷酸;多态;孤独症;5-羟色胺转运体启动子

Correlation between gene polymorphism of MTHFR gene C677T locus, 5-HTTLPR and autism in Han nationality children

Authors: 1ZHANG Huichun, 1SHANG Qing, 1GAO Chao, 1GENG Xiangju
1 Department of Rehabilitation, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou 450000, China

CorrespondingAuthor:GENG Xiangju Email: gengxiangjua@163.com

Foundation: This work was supported by the Medical Science and Technology Program of Henan Province (201503236, 201702323) and Science and Technology Development Plan Project of Henan Province (182102310403)

Abstract

Objective: To investigate the relationship between the gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T locus, the serotonin transporter promoter (5-HTTLPR) and autism in Han nationality children. Methods: A total of 68 children with autism diagnosed at the rehabilitation clinic of Children’s Hospital Affiliated to Zhengzhou University from February 2015 to January 2018 and 100 healthy children who underwent physical examination in the same period were selected as the study subjects. The gene polymorphism of MTHFR gene C677T and 5-HTTLPR in the 2 groups were analyzed. The differences in genotype and gene frequency were compared between the 2 groups. The relationship between genes and diseases was analyzed. Results: The proportion of TT and CT types in the C677T locus of MTHFR gene in the case group was significantly higher than that in the control group (P<0.05). The frequency of T allele in the case group was significantly higher than that in the control group (P<0.05). There was no significant difference in genotype frequency of 5-HTTLPR locus between the 2 groups (P>0.05). Logistic regression analysis showed that the C677T locus of MTHFR gene was associated with autism under the recessive genetic model (P<0.05), the C677T locus of MTHFR gene was associated with autism under the allelic model (P<0.05). Conclusion: The polymorphism of MTHFR gene C677T locus is associated with autism, while the polymorphism of 5-HTTLPR locus is not associated with autism in children.
Keywords: methylenetetrahydrofolate reductase; mononucleotide; polymorphism; autism; 5-serotonin transporter promoter