Dataset Information

Association Study of MTHFR C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population.

ABSTRACT: 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.

SUBMITTER: Zhang J

PROVIDER: S-EPMC7947295 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Association Study of MTHFR C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population.

Zhang Jishui J Ma Xueqian X Su Yi Y Wang Lifang L Shang Shaomei S Yue Weihua W

Frontiers in psychiatry 20210225

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 mas ...[more]

PMID: 33716803

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Project description:Background and purposeThe relationship of the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with the incidence of gestational diabetes mellitus (GDM) in the Chinese population remains controversial. This study aimed to further clarify the effect of the MTHFR gene C677T polymorphism on GDM risk among Chinese pregnant women based on current evidence.MethodsSeveral databases were searched up to July 29, 2023 for relevant case-control studies. The numbers of patients with and without the T allele of the MTHFR gene C677T polymorphism in the GDM and control groups were determined, and all statistical analyses were performed by RevMan 5.3 software and STATA 15.0 software. Trial sequential analysis (TSA) was performed by TSA version 0.9 beta software to determine the required information size.ResultsA total of 17 case-control studies involving 12345 Chinese participants were included. The pooled results demonstrated that the T allele of the MTHFR gene C677T polymorphism was significantly associated with an increased risk of GDM, which was manifested by the five gene models of the MTHFR C677T polymorphism [T vs. C: odds ratio (OR)=1.59, P=0.03; TT vs. CC: OR=2.24, P<0.001; TC vs. CC: OR=1.28, P=0.05; (TT+TC) vs. CC: OR=1.55, P=0.003; TT vs. (TC+CC): OR=1.89, P<0.001]. Subgroup analysis based on the regions indicated that the significant relationship between the T allele of the MTHFR gene C677T polymorphism and an increased risk of GDM was detected only among the southern population [T vs. C: OR=1.62, P=0.09; TT vs. CC: OR=2.22, P=0.004; TC vs. CC: OR=1.17, P=0.28; (TT+TC) vs. CC: OR=1.43, P=0.03; TT vs. (TC+CC): OR=1.97, P=0.006]. TSA plots showed that the information sizes for the association between the MTHFR gene C677T polymorphism and GDM risk were sufficient in the homozygote (TT vs. CC) and recessive (TT vs. TC+CC) models.ConclusionThe MTHFR gene C677T polymorphism is closely related to susceptibility to GDM in the southern Chinese population, and the C-T mutation serves as an important genetic risk factor for GDM. More well-designed large case-control studies are needed to further confirm the above findings.

Project description:BackgroundMethylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism is involved in DNA synthesis, DNA repair and DNA methylation. The functional polymorphism of MTHFR gene, C677T has been shown to impact various diseases and implicated as a risk factor for the development of various neurodegenerative disorders including glaucoma.MethodsWe investigated MTHFR C677T genotypes and alleles frequencies in primary glaucoma [primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG)] patients and matched healthy controls in a case-control study. Two hundred ten primary glaucoma cases were studied for MTHFR C677T polymorphism and compared with 280 controls taken from the healthy population, employing the polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP). The MTHFR gene was amplified using specific primers. The PCR products (294 bp) was subsequently digested with HinfI (New England Biolabs) at 37 °C for 12 h, separated by electrophoresis on 2 % agarose gels, and visualized with ethidium bromide staining. The restriction digestion yielded 168 and 126 bp fragments for TT, 294, 168 and 126 bp fragments for CT and undigested PCR product 294 bp indicating CC genotype.ResultsWe found the frequency of the genotypes and alleles of MTHFR C677T differ significantly between cases and controls. The frequencies of allele T and genotype CT were significantly higher while the frequencies of allele C and genotype CC were lower in primary glaucoma patients as compared to controls (p <0.05). Upon stratification of our results into POAG and PACG, significantly higher frequencies of allele T (19.44 %) and genotype CT (38.89 %) were found in POAG patients compared to controls (12.5 % and 25 % respectively). The frequencies of alleles and genotypes were almost similar in PACG and controls (p = 0.8).ConclusionThis study indicates that the allele T and genotype CT of MTHFR C677T polymorphism are significantly associated with POAG while allele C and CC genotype may be protective for it. We conclude that the MTHFR C677T polymorphism increases the risk for POAG development in Saudi population and can be a genetic marker however, further studies are needed with multiple-ethnic populations affected with POAG to strengthen these findings.

Dataset Information

Association Study of MTHFR C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population.

Publications

Association Study of <i>MTHFR</i> C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population.

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