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多态性与妊娠期糖尿病风险的关联:对遗传易感性的新见解。

Association of polymorphism with gestational diabetes mellitus risk: a novel insight into genetic predisposition.

作者信息

Chermon Danyel, Birk Ruth

机构信息

Nutrition Department, Health Sciences Faculty, 42732 Ariel University , Ariel, Israel.

出版信息

J Perinat Med. 2024 May 13;52(6):611-616. doi: 10.1515/jpm-2023-0366. Print 2024 Jul 26.

DOI:10.1515/jpm-2023-0366
PMID:38726479
Abstract

OBJECTIVES

Gestational diabetes mellitus (GDM) is a prevalent metabolic disorder during pregnancy with potential long-term health implications for the mother and child. The interplay between genetics and GDM susceptibility remains an area of active research. Recently, brain-derived neurotrophic factor (BDNF) was investigated in relation to obesity and impaired glucose metabolism and pathogenesis. We aimed to investigate the association of common BDNF polymorphisms, with GDM risk in Israeli females.

METHODS

A cohort of 4,025 Israeli women data for common SNPs was analyzed for potential association with GDM using binary logistic regressions analysis (SPSS 29.0 and R) adjusted for confounding variables (age, T1DM, T2DM, PCOS) under different genetic models.

RESULTS

The GDM and Non-GDM genetic frequencies for the Tag-SNP were significantly different. The genetic frequencies were 54.16 %, and 66.91 % for the wild type (GG), 38.88 and 29.64 % for the heterozygotes (TC), and 6.94 and 3.48 % for the risk allele homozygotes (TT) for the GDM non-GDM populations, respectively. Carriers of were significantly associated with higher risk for GDM, following the dominant genetic model (OR=1.7, 95 % CI 1.21-2.39, p=0.002), the recessive genetic model (OR=2.05, 95 % CI 1.04-4.03, p=0.03), and the additive genetic model (OR=1.62, 95 % CI 1.13-2.3, p=0.008). This association persisted after adjusting for age, T1DM, T2DM, and polycystic ovary syndrome (PCOS).

CONCLUSIONS

Carrying rs925946 polymorphism predisposes to a higher risk of GDM pathogenesis. Its role and implications warrant further investigation, especially when considering preventive measures for GDM development.

摘要

目的

妊娠期糖尿病(GDM)是孕期一种常见的代谢紊乱疾病,对母婴健康具有潜在的长期影响。遗传学与GDM易感性之间的相互作用仍是一个活跃的研究领域。最近,脑源性神经营养因子(BDNF)与肥胖、糖代谢受损及发病机制相关的研究受到关注。我们旨在研究常见BDNF基因多态性与以色列女性GDM风险的关联。

方法

采用二元逻辑回归分析(SPSS 29.0和R),对4025名以色列女性的常见单核苷酸多态性(SNP)数据进行分析,以探讨其与GDM的潜在关联,并在不同遗传模型下对混杂变量(年龄、1型糖尿病、2型糖尿病、多囊卵巢综合征)进行校正。

结果

标签单核苷酸多态性(Tag-SNP)的GDM和非GDM基因频率存在显著差异。在GDM和非GDM人群中,野生型(GG)的基因频率分别为54.16%和66.91%,杂合子(TC)分别为38.88%和29.64%,风险等位基因纯合子(TT)分别为6.94%和3.48%。按照显性遗传模型(OR=1.7,95%CI 1.21-2.39,p=0.002)、隐性遗传模型(OR=2.05,95%CI 1.04-4.03,p=0.03)和加性遗传模型(OR=1.62,95%CI 1.13-2.3,p=0.008),携带该基因多态性与GDM风险显著相关。在对年龄、1型糖尿病、2型糖尿病和多囊卵巢综合征(PCOS)进行校正后,这种关联仍然存在。

结论

携带rs925946基因多态性易导致GDM发病风险升高。其作用和影响值得进一步研究,特别是在考虑GDM发生的预防措施时。

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