scholarly journals Association Between MTHFR C677T Polymorphism and Susceptibility to Autism Spectrum Disorders: A Meta-Analysis in Chinese Han Population

2021 ◽  
Vol 9 ◽  
Author(s):  
Chen-Xi Li ◽  
Yi-Guang Liu ◽  
Yue-Ping Che ◽  
Jian-Lin Ou ◽  
Wen-Cong Ruan ◽  
...  

Prior studies have examined the influence of MTHFR C677T on autism susceptibility, however, there are no consensus conclusions and specific analyses of a Chinese population. This meta-analysis included a false-positive report probability (FPRP) test to comprehensively evaluate the association of MTHFR C677T polymorphism with autism susceptibility among a Chinese Han population. A large-scale literature retrieval was conducted using various databases including PubMed, Embase, Wan Fang, and the Chinese National Knowledge Infrastructure (CNKI) up to July 31, 2020, with a total of 2,258 cases and 2,073 controls included. The strength of correlation was assessed by odds ratios (ORs) and 95% confidence intervals (95% CIs). MTHFR C677T showed a significant correlation with increased ASD susceptibility under all genetic models (T vs. C, OR = 1.89, 95% CI 1.28 to 2.79; TT vs. CC: OR = 2.44, 95% CI 1.43 to 4.15; CT vs. CC, OR = 1.73; 95% CI 1.19 to 2.51; CT + TT vs. CC: OR = 2.03, 95% CI 1.31 to 3.15; TT vs. CT + CC, OR = 1.95, 95% CI 1.21 to 3.13). Stratification analysis by region also revealed a consistent association in the Northern Han subgroup, but not in the Southern Han subgroup. Pooled minor allele frequency (MAF) of 30 studies were 45% in Northern Han and 39% in Southern Han. To avoid a possible “false positive report,” we further investigated the significant associations observed in the present meta-analysis using the FPRP test, which consolidated the results. In conclusion, MTHFR C677T polymorphism is associated with the increased risk of autism in China, especially in Northern Han. For those mothers and children who are generally susceptible to autism, prenatal folate and vitamin B12 may reduce the risk that children suffer from autism, especially in Northern Han populations. In the future, more well-designed studies with a larger sample size are expected.

2016 ◽  
Vol 22 ◽  
pp. 127-133 ◽  
Author(s):  
Xin Hu ◽  
Chuanyuan Tao ◽  
Zhiyi Xie ◽  
Yunke Li ◽  
Jun Zheng ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Jishui Zhang ◽  
Xueqian Ma ◽  
Yi Su ◽  
Lifang Wang ◽  
Shaomei Shang ◽  
...  

Objective: To explore the association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with birth body mass and risk of autism in Chinese Han population.Methods: 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 MTHFR 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.Results: The present study found that the MTHFR 677T was significantly associated with risk of autism [P = 0.004, odds ratio (OR) = 1.18, 95% CI = 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%, P = 0.001, OR = 1.67, 95% CI = 1.24–2.26). The interactive effects between MTHFR 677T and low birth body mass (P = 0.0001, OR = 2.18, 95% CI = 1.44–3.32) were also significantly associated with risk of autism.Conclusions: The MTHFR C677T polymorphism and low birth body mass may be associated with risk of autism in Chinese Han population.


2021 ◽  
Author(s):  
Xuemei Lu ◽  
Xiaoling Deng ◽  
Tingying Liu ◽  
Qiufang Zhang ◽  
Mingyan Xu

Abstract Background: Functional polymorphisms on methylenetetrahydrofolate reductase (MTHFR) gene are reported to be involved in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P), but the conclusions are still inconsistent. The aim of our study is to investigate the association between the susceptibility of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and MTHFR C677T polymorphism in Chinese Han population.Methods: A case-control study was performed, followed by a Meta-analysis. Electronic databases including PubMed, Embase, CNKI, VIP and Wanfang database were searched for relevant literature from inception of databases to November 2020. Meta-analysis was performed using Revman 5.3 and STATA 12.0 software. Results: The case-control study included 358 NSCL/P cases and 354 controls, which indicated that the variant T allele significantly increased NSCL/P risk in Southern China. Then, in the present Meta-analysis, a total of nine case-control studies with 1444 cases and 1555 controls were included. Overall, there was a significant association between MTHFR C677T polymorphism and NSCL/P susceptibility under all genetic models. The subgroup analysis of NSCL/P types showed significantly increased risk of CLO but not CPO or CLP. In terms of the stratified analysis by geographical location, a significantly association was observed in Southern China under all genetic models, while there was no significant association in Northern China. Sensitivity analyses, Begg's funnel plot and Egger’s regression test further suggest the stable and trustworthy of these results. Conclusion: MTHFR C677T polymorphism is associated with the risk of NSCL/P in Chinese Han population, especially increasing the risk of NSCL/P in southern Chinese Han populations.


Tumor Biology ◽  
2015 ◽  
Vol 36 (2) ◽  
pp. 461-466 ◽  
Author(s):  
Chang-Jiang Qin ◽  
Kai-Wu Xu ◽  
Zhi-Hui Chen ◽  
Er-Tao Zhai ◽  
Yu-Long He ◽  
...  

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