We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.
- Authors
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
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>A case-control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed.<bold>Results: </bold>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.<bold>Conclusions: </bold>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.
- Subjects
CHINA; CONGENITAL heart disease; ATRIAL septal defects; GENETIC polymorphisms; PATENT ductus arteriosus; SINGLE nucleotide polymorphisms; PEDIATRIC cardiology; MATERNAL age; CONGENITAL heart disease diagnosis; RESEARCH; GENETICS; RESEARCH methodology; CASE-control method; EVALUATION research; GENETIC carriers; RISK assessment; COMPARATIVE studies; GENOTYPES; DISEASE susceptibility; HAPLOTYPES; QUESTIONNAIRES; OXIDOREDUCTASES; GENETIC techniques; PHENOTYPES
- Publication
BMC Cardiovascular Disorders, 2021, Vol 21, Issue 1, p1
- ISSN
1471-2261
- Publication type
journal article
- DOI
10.1186/s12872-021-02117-z