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维生素 D 受体基因多态性与中国人群妊娠期糖尿病发病风险的关联。

Association between VDR genetic polymorphisms and risk of gestational diabetes mellitus in the Chinese population.

机构信息

Kunming Medical Univesity, Kunming, China.

The First People's Hospital of Puer City, Puer, China.

出版信息

Am J Reprod Immunol. 2023 Dec;90(6):e13778. doi: 10.1111/aji.13778.

Abstract

BACKGROUND AND AIMS

Abnormal metabolism of vitamin D was the primary mechanism in many pregnancy diseases. Our study was the first to examine the hypothesis that VDR gene polymorphisms contribute to the risk of gestational diabetes mellitus (GDM) in the Chinese population at high altitudes.

MATERIALS AND METHODS

One hundred and eighteen women with GDM and 104 women with normal glucose tolerance (NGT) were included in this study using a case-control design. Four single nucleotide polymorphisms (g.47879112G > A, g.47846052C > T, g.47844974A > G, and g.47845054C > A) of mother and fetus were genotyped.

RESULTS

Maternal and fetal frequency of the A allele of g.47879112G > A was significantly increased in women with GDM than in those with NGT (p < .05). A correlation between the AA homozygous genotype of g.47879112G > A and GDM was noted. Compared with non-carriers, A allele carriers showed higher fasting plasma insulin and two-hour post-challenge plasma glucose (2h-PPG), and lower levels of vitamin D. Furthermore, both maternal and fetal 4-marker haplotype ACCG were found to be significantly associated with GDM (p < .05).

CONCLUSIONS

Association and haplotype analysis indicated that the A allele of g.47879112G > A could be a risk factor for GDM development in the Chinese population at high altitudes. Additionally, the VDR gene polymorphism of the fetus and mother may have a synergistic effect. The VDR polymorphism is associated with an increased risk of GDM and may be useful for predicting the development of the disease.

摘要

背景与目的

维生素 D 代谢异常是许多妊娠疾病的主要机制。我们的研究首次检验了维生素 D 受体(VDR)基因多态性是否导致中国高海拔地区人群发生妊娠糖尿病(GDM)的假说。

材料与方法

采用病例对照设计,纳入 118 例 GDM 患者和 104 例糖耐量正常(NGT)孕妇。对母亲和胎儿的 4 个单核苷酸多态性(g.47879112G > A、g.47846052C > T、g.47844974A > G 和 g.47845054C > A)进行基因分型。

结果

GDM 患者中 g.47879112G > A 的 A 等位基因频率明显高于 NGT 孕妇(p < 0.05)。g.47879112G > A 的 AA 纯合基因型与 GDM 相关。与非携带者相比,A 等位基因携带者空腹胰岛素和 2 小时餐后血糖(2h-PPG)更高,维生素 D 水平更低。此外,母亲和胎儿的 4 个标记单倍型 ACCG 均与 GDM 显著相关(p < 0.05)。

结论

关联和单倍型分析表明,g.47879112G > A 的 A 等位基因可能是中国高海拔地区人群 GDM 发病的危险因素。此外,胎儿和母亲的 VDR 基因多态性可能具有协同作用。VDR 多态性与 GDM 风险增加相关,可能有助于预测疾病的发生。

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