Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis
Abstract Background We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups. Methods Relevant articles were searched in PubMed, Web of Science, C...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12920-024-02052-w |
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| author | Kang Yi Shao-E He Tao Guo Zi-Qiang Wang Xin Zhang Jian-Guo Xu Hao-Yue Zhang Wei-Guo Liu Tao You |
| author_facet | Kang Yi Shao-E He Tao Guo Zi-Qiang Wang Xin Zhang Jian-Guo Xu Hao-Yue Zhang Wei-Guo Liu Tao You |
| author_sort | Kang Yi |
| collection | DOAJ |
| description | Abstract Background We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups. Methods Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups. Results We included a total of 9 eligible studies, encompassing 1917 children with CHD, 1863 healthy children, 1717 mothers of the children with CHD and 1666 mothers of healthy children. In our study, the meta-analysis of fetal group revealed no significant association between any of the five genetic models for the MTHFD1-G1958A polymorphism and the risk of CHD. Subgroup analysis showed that associations between the MTHFD1-G1958A polymorphism and Tetralogy of Fallot (TOF) risk in the homozygote model (AA vs. GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). In addition, the MTHFD1-G1958A polymorphism was associated with the risk of CHD in racial subgroup, increasing the risk of CHD in Caucasians. In maternal analysis, 2 genetic models of MTHFD1-G1958A polymorphism increased the risk of CHD: the heterozygote model (GA vs. GG, OR = 1.22, 95%CI [1.04, 1.42], P = 0.01), and the dominance model (GA + AA vs. GG, OR = 1.17, 95%CI [1.01, 1.34], P = 0.03). Conclusions The fetal MTHFD1-G1958A (rs2236225) gene polymorphism increase their risk of TOF. The maternal MTHFD1-G1958A polymorphism has a strong correlation with the risk of CHD, and there are racial differences in this correlation. Compared with GG genotype, the GA genotype increases the risk of CHD. |
| format | Article |
| id | doaj-art-b3d0919a9b57476ba0f9889a457a1bab |
| institution | Kabale University |
| issn | 1755-8794 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | BMC Medical Genomics |
| spelling | doaj-art-b3d0919a9b57476ba0f9889a457a1bab2025-02-02T12:46:37ZengBMCBMC Medical Genomics1755-87942025-01-0118112410.1186/s12920-024-02052-wAssociation of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysisKang Yi0Shao-E He1Tao Guo2Zi-Qiang Wang3Xin Zhang4Jian-Guo Xu5Hao-Yue Zhang6Wei-Guo Liu7Tao You8Department of Cardiovascular Surgery, Gansu Provincial HospitalGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart DiseaseDepartment of Cardiovascular Surgery, Gansu Provincial HospitalDepartment of Cardiovascular Surgery, Gansu Provincial HospitalGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart DiseaseEvidence-Based Medicine Center, School of Basic Medical Sciences, Lanzhou UniversityGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart DiseaseGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart DiseaseDepartment of Cardiovascular Surgery, Gansu Provincial HospitalAbstract Background We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups. Methods Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups. Results We included a total of 9 eligible studies, encompassing 1917 children with CHD, 1863 healthy children, 1717 mothers of the children with CHD and 1666 mothers of healthy children. In our study, the meta-analysis of fetal group revealed no significant association between any of the five genetic models for the MTHFD1-G1958A polymorphism and the risk of CHD. Subgroup analysis showed that associations between the MTHFD1-G1958A polymorphism and Tetralogy of Fallot (TOF) risk in the homozygote model (AA vs. GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). In addition, the MTHFD1-G1958A polymorphism was associated with the risk of CHD in racial subgroup, increasing the risk of CHD in Caucasians. In maternal analysis, 2 genetic models of MTHFD1-G1958A polymorphism increased the risk of CHD: the heterozygote model (GA vs. GG, OR = 1.22, 95%CI [1.04, 1.42], P = 0.01), and the dominance model (GA + AA vs. GG, OR = 1.17, 95%CI [1.01, 1.34], P = 0.03). Conclusions The fetal MTHFD1-G1958A (rs2236225) gene polymorphism increase their risk of TOF. The maternal MTHFD1-G1958A polymorphism has a strong correlation with the risk of CHD, and there are racial differences in this correlation. Compared with GG genotype, the GA genotype increases the risk of CHD.https://doi.org/10.1186/s12920-024-02052-wHeart defects, CongenitalMeta-analysisSystematic reviewPolymorphism, Single nucleotideMethylenetetrahydrofolate dehydrogenase 1 |
| spellingShingle | Kang Yi Shao-E He Tao Guo Zi-Qiang Wang Xin Zhang Jian-Guo Xu Hao-Yue Zhang Wei-Guo Liu Tao You Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis BMC Medical Genomics Heart defects, Congenital Meta-analysis Systematic review Polymorphism, Single nucleotide Methylenetetrahydrofolate dehydrogenase 1 |
| title | Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis |
| title_full | Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis |
| title_fullStr | Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis |
| title_full_unstemmed | Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis |
| title_short | Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis |
| title_sort | association of mthfd1 g1958a rs2236225 gene polymorphism with the risk of congenital heart disease a systematic review and meta analysis |
| topic | Heart defects, Congenital Meta-analysis Systematic review Polymorphism, Single nucleotide Methylenetetrahydrofolate dehydrogenase 1 |
| url | https://doi.org/10.1186/s12920-024-02052-w |
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