母亲甲酸盐暴露和代谢基因多态性与先天性心脏病的关联:一个多中心病例控制研究
Nana Li1,2, Hong Kang1,2, Zhen Liu1,2
1National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China.
BMC pregnancy and childbirth
|February 26, 2024
概括
母亲的UGT1A7基因变异,特别是rs4124874和rs887829的变异,与后代患先天性心脏病 (CHD) 的风险增加有关. 在这项研究中,甲酸盐暴露与CHD没有显著的关联.
科学领域:
- 环境健康 环境健康
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 遗传性心脏病 (CHD) 可能是由复杂的基因环境相互作用引起的.
- 调查母亲对酸盐和遗传倾向等环境因素的暴露对于了解心血管疾病病因至关重要.
研究的目的:
- 评估母体甲酸盐暴露,特定基因多态性和后代心血管疾病风险之间的关联.
- 探索潜在的基因环境相互作用在CHDs的发展.
主要方法:
- 一项多中心病例控制研究,涉及245名患有心血管疾病的婴儿母亲和268名对照母亲.
- 使用UHPLC-MS/MS.进行母体尿甲酸代谢物的量化.
- 在CYP2C9,CYP2C19,UGT1A7,UGT2B7和UGT2B15基因中单核酸多态 (SNPs) 的基因定型.
- 使用多变量逻辑回归和通用多因素维度减少 (GMDR) 的统计分析.
主要成果:
- 在病例和对照之间没有发现甲酸代谢物水平的显著差异.
- 母亲暴露于酸盐与心血管疾病风险增加没有显著关联.
- 在UGT1A7基因多态 (rs4124874和rs887829) 与心血管疾病风险增加之间观察到显著的关联,在错误发现率纠正后,一些发现仍然显著.
- 没有发现显著的基因-基因或基因-甲酸盐相互作用.
结论:
- 在rs4124874和rs887829的母体UGT1A7基因多态性与心血管疾病的风险增加有显著的关联.
- 需要进一步的大规模或前性研究来验证这些发现,并阐明UGT1A7在心血管疾病发展中的作用.
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