{"title":"母亲叶酸补充和后代MTRR基因多态性与先天性心脏病的关系：一项以医院为基础的汉族人群病例对照研究","authors":"Liuxuan Li, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Yingfan Zhang, Jiabi Qin","doi":"10.1186/s41043-024-00699-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Although many studies shown that the risk of congenital heart disease (CHD) was closely related to genetic and environmental factors, the exact mechanism was still unclear. This study was to assess the association of maternal folic acid supplementation (FAS), the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms in offspring and their interaction effects with the risk of CHD and its subtypes.</p><p><strong>Methods: </strong>A case-control study was conducted on 595 children with CHD and 605 healthy child controls. The multivariate logistic regression model was used to assess the association of maternal FAS, offspring MTRR gene polymorphisms and their interaction effects with CHD and its subtypes.</p><p><strong>Results: </strong>This study shown that maternal FAS was significantly associated with a reduced risk of CHD (OR = 0.55, 95%CI: 0.36-0.83) and its subtypes including ASD (OR = 0.25, 95%CI: 0.14-0.45), VSD (OR = 0.42, 95%CI: 0.27-0.64), and CTD (OR = 0.23, 95%CI: 0.09-0.59) in offspring. Offspring MTRR gene polymorphisms at rs162048 (GG vs. AA: OR = 2.05, 95%CI: 1.35-3.13), rs1802059 (AA vs. GG: OR = 5.13, 95%CI: 2.15-12.23; GA vs. GG: OR = 1.81, 95%CI: 1.35-2.43), rs10380 (TT vs. CC: OR = 2.27, 95%CI: 1.20-4.31) and rs1801394 (GG vs. AA: OR = 1.58, 95%CI: 1.02-2.42) were significantly associated with the risk of CHD, and similar results were also found for three subtypes of CHD. Additionally, a statistically significant interaction effect between maternal FAS and offspring MTRR gene polymorphism at rs1802059 was observed (OR = 0.38, 95%CI: 0.15-0.94). Among children who had a variant genotype at rs1802059, the risk of CHD was significantly decreased when their mother used folate for this pregnancy compared with mothers not using folate.</p><p><strong>Conclusions: </strong>In those of Chinese descent, maternal FAS and offspring MTRR gene polymorphisms are significantly associated with the risk of CHD and its three subtypes. Furthermore, maternal FAS may help to offset some of risks of CHD due to offspring MTRR genetic variants. However, more studies with prospective designs and larger samples are needed to confirm our findings.</p><p><strong>Trial registration: </strong>Registration number: ChiCTR1800016635; Registration time: 14/06/2018.</p>","PeriodicalId":15969,"journal":{"name":"Journal of Health, Population, and Nutrition","volume":"43 1","pages":"220"},"PeriodicalIF":2.4000,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660932/pdf/","citationCount":"0","resultStr":"{\"title\":\"Association of maternal folic acid supplementation and offspring MTRR gene polymorphism with congenital heart disease: a hospital-based case-control study in Han population.\",\"authors\":\"Liuxuan Li, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Yingfan Zhang, Jiabi Qin\",\"doi\":\"10.1186/s41043-024-00699-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Although many studies shown that the risk of congenital heart disease (CHD) was closely related to genetic and environmental factors, the exact mechanism was still unclear. This study was to assess the association of maternal folic acid supplementation (FAS), the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms in offspring and their interaction effects with the risk of CHD and its subtypes.</p><p><strong>Methods: </strong>A case-control study was conducted on 595 children with CHD and 605 healthy child controls. The multivariate logistic regression model was used to assess the association of maternal FAS, offspring MTRR gene polymorphisms and their interaction effects with CHD and its subtypes.</p><p><strong>Results: </strong>This study shown that maternal FAS was significantly associated with a reduced risk of CHD (OR = 0.55, 95%CI: 0.36-0.83) and its subtypes including ASD (OR = 0.25, 95%CI: 0.14-0.45), VSD (OR = 0.42, 95%CI: 0.27-0.64), and CTD (OR = 0.23, 95%CI: 0.09-0.59) in offspring. Offspring MTRR gene polymorphisms at rs162048 (GG vs. AA: OR = 2.05, 95%CI: 1.35-3.13), rs1802059 (AA vs. GG: OR = 5.13, 95%CI: 2.15-12.23; GA vs. GG: OR = 1.81, 95%CI: 1.35-2.43), rs10380 (TT vs. CC: OR = 2.27, 95%CI: 1.20-4.31) and rs1801394 (GG vs. AA: OR = 1.58, 95%CI: 1.02-2.42) were significantly associated with the risk of CHD, and similar results were also found for three subtypes of CHD. Additionally, a statistically significant interaction effect between maternal FAS and offspring MTRR gene polymorphism at rs1802059 was observed (OR = 0.38, 95%CI: 0.15-0.94). Among children who had a variant genotype at rs1802059, the risk of CHD was significantly decreased when their mother used folate for this pregnancy compared with mothers not using folate.</p><p><strong>Conclusions: </strong>In those of Chinese descent, maternal FAS and offspring MTRR gene polymorphisms are significantly associated with the risk of CHD and its three subtypes. Furthermore, maternal FAS may help to offset some of risks of CHD due to offspring MTRR genetic variants. However, more studies with prospective designs and larger samples are needed to confirm our findings.</p><p><strong>Trial registration: </strong>Registration number: ChiCTR1800016635; Registration time: 14/06/2018.</p>\",\"PeriodicalId\":15969,\"journal\":{\"name\":\"Journal of Health, Population, and Nutrition\",\"volume\":\"43 1\",\"pages\":\"220\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-12-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660932/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Health, Population, and Nutrition\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s41043-024-00699-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ENVIRONMENTAL SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Health, Population, and Nutrition","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s41043-024-00699-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENVIRONMENTAL SCIENCES","Score":null,"Total":0}
引用次数: 0
摘要
背景：虽然许多研究表明先天性心脏病（CHD）的发病风险与遗传和环境因素密切相关，但其确切机制尚不清楚。本研究旨在评估母体叶酸补充（FAS）、后代5-甲基四氢叶酸-同型半胱氨酸甲基转移酶还原酶（MTRR）基因多态性与冠心病及其亚型风险的相关性及其相互作用。方法：对595例冠心病患儿和605例健康儿童进行病例对照研究。采用多变量logistic回归模型评估母体FAS、子代MTRR基因多态性与冠心病及其亚型的相关性及其交互效应。结果：本研究显示，母体FAS与降低后代冠心病（OR = 0.55, 95%CI: 0.36-0.83）及其亚型包括ASD （OR = 0.25, 95%CI: 0.14-0.45）、VSD （OR = 0.42, 95%CI: 0.27-0.64）和CTD （OR = 0.23, 95%CI: 0.09-0.59）的风险显著相关。后代MTRR基因多态性位点为rs162048 （GG vs. GG: OR = 2.05, 95%CI: 1.35 ~ 3.13）、rs1802059 (AA vs. GG: OR = 5.13, 95%CI: 2.15 ~ 12.23；GA vs. GG: OR = 1.81, 95%CI: 1.35-2.43)、rs10380 （TT vs. CC: OR = 2.27, 95%CI: 1.20-4.31）和rs1801394 （GG vs. AA: OR = 1.58, 95%CI: 1.02-2.42）与冠心病风险显著相关，在三种冠心病亚型中也发现了类似的结果。此外，在rs1802059位点，母体FAS与子代MTRR基因多态性之间存在显著的交互作用（OR = 0.38, 95%CI: 0.15 ~ 0.94）。在rs1802059基因型变异的儿童中，与未使用叶酸的母亲相比，母亲在怀孕期间使用叶酸的儿童患冠心病的风险显著降低。结论：在中国后裔中，母亲FAS和后代MTRR基因多态性与冠心病及其三种亚型的风险显著相关。此外，母体FAS可能有助于抵消后代MTRR基因变异导致的冠心病风险。然而，需要更多具有前瞻性设计和更大样本的研究来证实我们的发现。试验注册：注册号：ChiCTR1800016635；报名时间：14/06/2018
Association of maternal folic acid supplementation and offspring MTRR gene polymorphism with congenital heart disease: a hospital-based case-control study in Han population.
Background: Although many studies shown that the risk of congenital heart disease (CHD) was closely related to genetic and environmental factors, the exact mechanism was still unclear. This study was to assess the association of maternal folic acid supplementation (FAS), the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms in offspring and their interaction effects with the risk of CHD and its subtypes.
Methods: A case-control study was conducted on 595 children with CHD and 605 healthy child controls. The multivariate logistic regression model was used to assess the association of maternal FAS, offspring MTRR gene polymorphisms and their interaction effects with CHD and its subtypes.
Results: This study shown that maternal FAS was significantly associated with a reduced risk of CHD (OR = 0.55, 95%CI: 0.36-0.83) and its subtypes including ASD (OR = 0.25, 95%CI: 0.14-0.45), VSD (OR = 0.42, 95%CI: 0.27-0.64), and CTD (OR = 0.23, 95%CI: 0.09-0.59) in offspring. Offspring MTRR gene polymorphisms at rs162048 (GG vs. AA: OR = 2.05, 95%CI: 1.35-3.13), rs1802059 (AA vs. GG: OR = 5.13, 95%CI: 2.15-12.23; GA vs. GG: OR = 1.81, 95%CI: 1.35-2.43), rs10380 (TT vs. CC: OR = 2.27, 95%CI: 1.20-4.31) and rs1801394 (GG vs. AA: OR = 1.58, 95%CI: 1.02-2.42) were significantly associated with the risk of CHD, and similar results were also found for three subtypes of CHD. Additionally, a statistically significant interaction effect between maternal FAS and offspring MTRR gene polymorphism at rs1802059 was observed (OR = 0.38, 95%CI: 0.15-0.94). Among children who had a variant genotype at rs1802059, the risk of CHD was significantly decreased when their mother used folate for this pregnancy compared with mothers not using folate.
Conclusions: In those of Chinese descent, maternal FAS and offspring MTRR gene polymorphisms are significantly associated with the risk of CHD and its three subtypes. Furthermore, maternal FAS may help to offset some of risks of CHD due to offspring MTRR genetic variants. However, more studies with prospective designs and larger samples are needed to confirm our findings.
期刊介绍：
Journal of Health, Population and Nutrition brings together research on all aspects of issues related to population, nutrition and health. The journal publishes articles across a broad range of topics including global health, maternal and child health, nutrition, common illnesses and determinants of population health.
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