Dataset Information

Association between MTHFR gene polymorphism and NTDs in Chinese Han population.

ABSTRACT: OBJECTIVE:This study aims to investigate the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and neural tube defects (NTDs) in Chinese population. METHOD:A total of 271 NTDs cases and 192 healthy controls were used in this study. Fifty-two selected single nucleotide polymorphism (SNP) sites in the MTHFR gene were analyzed with next-generation sequencing method. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs. RESULTS:Statistical analysis showed a significant correlation between the SNP sites rs1801133 in MTHFR gene and NTDs. The GG genotype, G allele of rs1801133 in MTHFR significantly decreased the incidence of NTDs (OR = 0.449, 95% CI: 0.255-0.789 with genotype, and OR = 0.669, 95% CI: 0.508-0.881 with allele). CONCLUSIONS:The gene polymorphism loci rs1801133 in MTHFR gene maybe potential risk factors for NTD in Chinese population.

SUBMITTER: Yu Y

PROVIDER: S-EPMC4211806 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Association between MTHFR gene polymorphism and NTDs in Chinese Han population.

Yu Yang Y Wang Fang F Bao Yihua Y Lu Xiaolin X Quan Li L Lu Ping P

International journal of clinical and experimental medicine 20140915 9

<h4>Objective</h4>This study aims to investigate the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and neural tube defects (NTDs) in Chinese population.<h4>Method</h4>A total of 271 NTDs cases and 192 healthy controls were used in this study. Fifty-two selected single nucleotide polymorphism (SNP) sites in the MTHFR gene were analyzed with next-generation sequencing method. A series of statistical methods were carried out to investigate the corre ...[more]

PMID: 25356156

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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:Objective: The purpose of this study was to investigate the relationship between GSDMB gene polymorphism and genetic susceptibility to cervical cancer in the Han population in Northeast China. Methods: In this case-control study, the genotypes and alleles of rs8067378 in the GSDMB gene were analyzed by multiplex polymerase chain reaction (PCR) and next-generation sequencing methods in 482 cervical cancer (CC) patients, 775 cervical squamous intraepithelial lesion (SIL) patients, and 495 healthy women. The potential relationships between the SNP of the GSDMB gene with SIL and CC were analyzed by multivariate logistic regression analysis combined with 10,000 permutation tests. Results: In the comparison between the SIL group and the control group, the genotype and allele distribution frequencies of rs8067378 SNP of the GSDMB gene were statistically significant (p = 0.0493 and p = 0.0202, respectively). The allele distribution frequencies of rs8067378 were also statistically significant in the comparison between high-grade cervical squamous intraepithelial lesion (HSIL) and low-grade cervical squamous intraepithelial lesion (LSIL) groups with control group ( p = 0.0483 and p = 0.0330, respectively). Logistic regression analysis showed that after adjusting for age, the rs8067378 SNP of the GSDMB gene was significantly associated with the reduced risk of SIL under the dominant model (p = 0.0213, OR = 0.764, CI = 0.607-0.961) and the additive model (p = 0.0199, OR = 0.814, and CI = 0.684-0.968), and its mutant gene G may play a role in the progression of healthy people to LSIL and even HSIL as a protective factor. However, there was no significant association between cervical cancer and its subtypes with the control group (p > 0.05). After 10,000 permutations, there was still no correlation that has provided evidence for the accuracy of our study. Conclusion: The results of this study showed that rs8067378 single nucleotide polymorphism of the GSDMB gene may reduce the risk of SIL and protect the susceptibility to cervical precancerous lesions in the Northeast Chinese Han population, but it has no significant correlation with the progression of cervical cancer.

Dataset Information

Association between MTHFR gene polymorphism and NTDs in Chinese Han population.

Publications

Association between MTHFR gene polymorphism and NTDs in Chinese Han population.

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