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The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.

ABSTRACT: Objective The rs10229583 polymorphism near paired box gene 4 ( PAX4) is associated with insulin resistance and type 2 diabetes. Mutations in the PAX4 gene may be associated with impaired differentiation/development of pancreatic islet beta cells during fetal development and, consequently, a compromised insulin response to high blood glucose. To ascertain whether this polymorphism plays a role in gestational diabetes mellitus (GDM), we investigated the genotypic and allele frequency differences between GDM and normal pregnancies. Methods A total of 310 GDM and 440 normal pregnancies were evaluated. Allele and genotype frequencies of rs10229583 were determined for all participants with Sanger sequencing and SNaPshot. Association of the allele and genotypes of the single nucleotide polymorphism with the disease was analyzed using Pearson's ?2 test and OR (odds ratio). Results The G allele was more frequent in patients with GDM compared with controls (OR?=?1.47, 95% confidence interval (CI): 1.12-1.939). The GG genotype frequency of rs10229583 was significantly different between subjects with GDM and normal controls (OR?=?1.411, 95% CI: 1.032-1.928). The OR of the GA?+? GG genotype was 3.182 (95% CI: 1.294-7.826) for patients with GDM compared with controls. Conclusion The present study suggests that rs10229583 is associated with GDM.

SUBMITTER: Xu T

PROVIDER: S-EPMC6011326 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.

Xu Tianyi T Shi Yiru Y Liu Jiangbo J Liu Yun Y Zhu Ailin A Xie Cui C Zhang Yan Y Chen Yan Y Ren Lirong L

The Journal of international medical research 20170721 1

Objective The rs10229583 polymorphism near paired box gene 4 ( PAX4) is associated with insulin resistance and type 2 diabetes. Mutations in the PAX4 gene may be associated with impaired differentiation/development of pancreatic islet beta cells during fetal development and, consequently, a compromised insulin response to high blood glucose. To ascertain whether this polymorphism plays a role in gestational diabetes mellitus (GDM), we investigated the genotypic and allele frequency differences b ...[more]

PMID: 28730907

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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.

Dataset Information

The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.

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The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.

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