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Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring
BACKGROUND: Although many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with ri...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204503/ https://www.ncbi.nlm.nih.gov/pubmed/34126931 http://dx.doi.org/10.1186/s12872-021-02117-z |
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author | Sun, Mengting Wang, Tingting Huang, Peng Diao, Jingyi Zhang, Senmao Li, Jinqi Luo, Liu Li, Yihuan Chen, Letao Liu, Yiping Wei, Jianhui Song, Xinli Sheng, Xiaoqi Qin, Jiabi |
author_facet | Sun, Mengting Wang, Tingting Huang, Peng Diao, Jingyi Zhang, Senmao Li, Jinqi Luo, Liu Li, Yihuan Chen, Letao Liu, Yiping Wei, Jianhui Song, Xinli Sheng, Xiaoqi Qin, Jiabi |
author_sort | Sun, Mengting |
collection | PubMed |
description | BACKGROUND: Although many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of CHD and its three subtypes in offspring. METHODS: A case–control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed. RESULTS: Our study showed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly associated with risk of CHD in the homozygote comparisons (TT vs. CC at rs4846052: OR = 7.62 [95%CI 2.95–19.65]; GG vs. TT at rs1801131: OR = 5.18 [95%CI 2.77–9.71]). And six haplotypes of G–C (involving rs4846048 and rs2274976), A–C (involving rs1801133 and rs4846052), G–T (involving rs1801133 and rs4846052), G–T–G (involving rs2066470, rs3737964 and rs535107), A–C–G (involving rs2066470, rs3737964 and rs535107) and G–C–G (involving rs2066470, rs3737964 and rs535107) were identified to be significantly associated with risk of CHD. Additionally, we observed that a two-locus model involving rs2066470 and rs1801131 as well as a three-locus model involving rs227497, rs1801133 and rs1801131 were significantly associated with risk of CHD in the gene–gene interaction analyses. For three subtypes including atrial septal defect, ventricular septal defect and patent ductus arteriosus, similar results were observed. CONCLUSIONS: Our study indicated genetic polymorphisms of maternal MTHFR gene were significantly associated with risk of fetal CHD in the Chinese population. Additionally, there were significantly interactions among different SNPs on risk of CHD. However, how these SNPs affect the development of fetal heart remains unknown, and more studies in different ethnic populations and with a larger sample are required to confirm these findings. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12872-021-02117-z. |
format | Online Article Text |
id | pubmed-8204503 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-82045032021-06-16 Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring Sun, Mengting Wang, Tingting Huang, Peng Diao, Jingyi Zhang, Senmao Li, Jinqi Luo, Liu Li, Yihuan Chen, Letao Liu, Yiping Wei, Jianhui Song, Xinli Sheng, Xiaoqi Qin, Jiabi BMC Cardiovasc Disord Research BACKGROUND: Although many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of CHD and its three subtypes in offspring. METHODS: A case–control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed. RESULTS: Our study showed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly associated with risk of CHD in the homozygote comparisons (TT vs. CC at rs4846052: OR = 7.62 [95%CI 2.95–19.65]; GG vs. TT at rs1801131: OR = 5.18 [95%CI 2.77–9.71]). And six haplotypes of G–C (involving rs4846048 and rs2274976), A–C (involving rs1801133 and rs4846052), G–T (involving rs1801133 and rs4846052), G–T–G (involving rs2066470, rs3737964 and rs535107), A–C–G (involving rs2066470, rs3737964 and rs535107) and G–C–G (involving rs2066470, rs3737964 and rs535107) were identified to be significantly associated with risk of CHD. Additionally, we observed that a two-locus model involving rs2066470 and rs1801131 as well as a three-locus model involving rs227497, rs1801133 and rs1801131 were significantly associated with risk of CHD in the gene–gene interaction analyses. For three subtypes including atrial septal defect, ventricular septal defect and patent ductus arteriosus, similar results were observed. CONCLUSIONS: Our study indicated genetic polymorphisms of maternal MTHFR gene were significantly associated with risk of fetal CHD in the Chinese population. Additionally, there were significantly interactions among different SNPs on risk of CHD. However, how these SNPs affect the development of fetal heart remains unknown, and more studies in different ethnic populations and with a larger sample are required to confirm these findings. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12872-021-02117-z. BioMed Central 2021-06-14 /pmc/articles/PMC8204503/ /pubmed/34126931 http://dx.doi.org/10.1186/s12872-021-02117-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Sun, Mengting Wang, Tingting Huang, Peng Diao, Jingyi Zhang, Senmao Li, Jinqi Luo, Liu Li, Yihuan Chen, Letao Liu, Yiping Wei, Jianhui Song, Xinli Sheng, Xiaoqi Qin, Jiabi Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title | Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title_full | Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title_fullStr | Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title_full_unstemmed | Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title_short | Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring |
title_sort | association analysis of maternal mthfr gene polymorphisms and the occurrence of congenital heart disease in offspring |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204503/ https://www.ncbi.nlm.nih.gov/pubmed/34126931 http://dx.doi.org/10.1186/s12872-021-02117-z |
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