母亲<italic>MTR</italic>基因多态性及其与围孕期叶酸补充的交互作用与子代室间隔缺损的关联研究

doi:10.7499/j.issn.1008-8830.2403067

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Abstract Objective To investigate how maternal MTR gene polymorphisms and their interactions with periconceptional folic acid supplementation are associated with the incidence of ventricular septal defects (VSD) in offspring. Methods A case-control study was conducted, recruiting 426 mothers of infants with VSD under one year old and 740 mothers of age-matched healthy infants. A questionnaire survey collected data on maternal exposures, and blood samples were analyzed for genetic polymorphisms. Multivariable logistic regression analysis and inverse probability of treatment weighting were used to analyze the associations between genetic loci and VSD. Crossover analysis and logistic regression were utilized to examine the additive and multiplicative interactions between the loci and folic acid intake. Results The CT and TT genotypes of the maternal MTR gene at rs6668344 increased the susceptibility of offspring to VSD (P<0.05). The GC and CC genotypes at rs3768139, AG and GG at rs1050993, AT and TT at rs4659743, GG at rs3768142, and GT and TT at rs3820571 were associated with a decreased risk of VSD (P<0.05). The variations at rs6668344 demonstrated an antagonistic multiplicative interaction with folic acid supplementation in relation to VSD (P<0.05). Conclusions Maternal MTR gene polymorphisms significantly correlate with the incidence of VSD in offspring. Mothers with variations at rs6668344 can decrease the susceptibility to VSD in their offspring by supplementing with folic acid during the periconceptional period, suggesting the importance of periconceptional folic acid supplementation in genetically at-risk populations to prevent VSD in offspring.

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	RUAN Xiao-Rui
	SUN Meng-Ting
	WEI Jian-Hui
	LUO Man-Jun
	LIU Han-Jun
	TANG Jia-Peng
	LI Liu-Xuan
	QIN Jia-Bi

Key words： Ventricular septal defect MTR gene Single nucleotide polymorphism Inverse probability of treatment weighting Interaction Offspring

Received: 19 March 2024

Corresponding Authors: Qin J-B Email：qinjiabi123@163.com。 E-mail: qinjiabi123@163.com

Cite this article:

RUAN Xiao-Rui,SUN Meng-Ting,WEI Jian-Hui et al. Maternal MTR gene polymorphisms and their interactions with periconceptional folic acid supplementation in relation to offspring ventricular septal defects[J]. CJCP, 2024, 26(9): 899-906.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2403067 OR http://www.zgddek.com/EN/Y2024/V26/I9/899

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