钙电压门控通道亚基α 1D （CACNA1D）基因多态性与台湾女性自发性早产有关。

IF 2.6 3区医学 Q1 MEDICINE, GENERAL & INTERNAL

Journal of the Formosan Medical Association Pub Date : 2025-03-19 DOI:10.1016/j.jfma.2025.03.010

Tzu-Yang Chang, Tzu-Hsiang Kao, Yi-Hsiu Kuo, Chia-Yu Chen, Chie-Pein Chen

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引用次数: 0

摘要

目的：钙信号对免疫功能、子宫肌收缩和激素分泌至关重要，所有这些都有助于早产。在这项研究中，我们研究了编码Cav1.3钙通道的CACNA1D基因的3个单核苷酸多态性（snp）与自发性早产（sPTB）风险的关系。方法：采用以医院为基础的病例对照研究，选取112例sPTB妇女和1120例对照组妇女。3个CACNA1D snp （rs9810888 T/G、rs1045958 C/T和rs881883 G/A）进行基因分型。结果：CACNA1D rs9810888 SNP的T/G基因型与sPTB发病风险降低相关（优势比：0.61,95%可信区间：0.41 ~ 0.91,P = 0.01, Pc = 0.03）。然而，其他2个snp没有明显的相关性。单倍型分析显示病例组与对照组之间无显著差异。结论：本研究提示CACNA1D基因rs9810888 T/G内含子变异对台湾女性sPTB具有保护作用。

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Polymorphisms in the calcium voltage-gated channel subunit Alpha1 D (CACNA1D) gene are associated with spontaneous preterm birth in Taiwanese women.

Purpose: Calcium signaling is essential for immune function, myometrial contractions, and hormone secretion, all of which contribute to preterm birth. In this study, we investigated the associations of 3 single-nucleotide polymorphisms (SNPs) in CACNA1D gene, which encodes the Cav1.3 calcium channel, with the risk of spontaneous preterm birth (sPTB).

Methods: A hospital-based case-control study was conducted with 112 women of sPTB and 1120 term control women. Three CACNA1D SNPs (rs9810888 T/G, rs1045958 C/T, and rs881883 G/A) were genotyped.

Results: The T/G genotype of the CACNA1D rs9810888 SNP was associated with a reduced risk of sPTB (odds ratio: 0.61, 95 % confidence interval: 0.41-0.91, P = 0.01, P_c = 0.03). However, no significant associations were observed for the other 2 SNPs. Haplotype analysis revealed no significant differences between the case and control groups.

Conclusion: Our findings suggest that the intronic rs9810888 T/G variant of CACNA1D gene protects against sPTB in Taiwanese women.

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来源期刊

Journal of the Formosan Medical Association 医学-医学：内科

CiteScore

6.50

自引率

6.20%

发文量

381

审稿时长

57 days

期刊介绍： Journal of the Formosan Medical Association (JFMA), published continuously since 1902, is an open access international general medical journal of the Formosan Medical Association based in Taipei, Taiwan. It is indexed in Current Contents/ Clinical Medicine, Medline, ciSearch, CAB Abstracts, Embase, SIIC Data Bases, Research Alert, BIOSIS, Biological Abstracts, Scopus and ScienceDirect. As a general medical journal, research related to clinical practice and research in all fields of medicine and related disciplines are considered for publication. Article types considered include perspectives, reviews, original papers, case reports, brief communications, correspondence and letters to the editor.