Zhang Jishui, Ma Xueqian, Su Yi, Wang Lifang, Shang Shaomei, Yue Weihua
Department of Mental Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
National Center for Children's Health, Beijing, China.
Front Psychiatry. 2021 Feb 25;12:560948. doi: 10.3389/fpsyt.2021.560948. eCollection 2021.
To explore the association of the methylenetetrahydrofolate reductase () C677T polymorphism with birth body mass and risk of autism in Chinese Han population. A total 1,505 Chinese Han autism patients were recruited, using the Diagnostic and Statistical Manual of Mental Disorders, 4th revised version (DSM-IV-R) diagnostic criteria for autism, and 1,308 sex-matched healthy controls were also enrolled for the study. All the participants' birth body masses were counted according to the medical records. The C677T genotypes were detected using the polymerase chain reaction-restrict fragment length polymorphism (PCR-RFLP) method. The association between C677T polymorphism, birth body mass, and risk of autism were analyzed using the chi-square tests. The present study found that the 677T was significantly associated with risk of autism [ = 0.004, odds ratio () = 1.18, 95% = 1.02-1.29). The autism children more frequently showed low birth body mass (<2.5 kg) than healthy control subjects (8.6 vs. 5.3%, = 0.001, = 1.67, 95% = 1.24-2.26). The interactive effects between 677T and low birth body mass ( = 0.0001, = 2.18, 95% = 1.44-3.32) were also significantly associated with risk of autism. The C677T polymorphism and low birth body mass may be associated with risk of autism in Chinese Han population.
探讨亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与中国汉族人群出生体重及自闭症风险的关联。共招募了1505名中国汉族自闭症患者，采用《精神疾病诊断与统计手册》第4版修订版（DSM-IV-R）自闭症诊断标准，同时纳入1308名性别匹配的健康对照者进行研究。根据病历记录统计所有参与者的出生体重。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测MTHFR C677T基因型。使用卡方检验分析C677T基因多态性、出生体重与自闭症风险之间的关联。本研究发现，MTHFR 677T与自闭症风险显著相关[P = 0.004，优势比（OR）= 1.18，95%可信区间（CI）= 1.02 - 1.29]。自闭症儿童低出生体重（<2.5 kg）的发生率高于健康对照者（8.6%对5.3%，P = 0.001，OR = 1.67，95%CI = 1.24 - 2.26）。MTHFR 677T与低出生体重之间的交互作用（P = 0.0001，OR = 2.18，95%CI = 1.44 - 3.32）也与自闭症风险显著相关。MTHFR C677T基因多态性和低出生体重可能与中国汉族人群的自闭症风险有关。
