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“Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis”
BACKGROUND: The risk of Congenital Heart Defects (CHD) is greatly influenced by variants within the genes involved in folate-homocysteine metabolism. Polymorphism in MTHFR (C677T and G1793A) and MS/MTR (A2756G) genes increases the risk of developing CHD risk, but results are controversial. Therefore...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036697/ https://www.ncbi.nlm.nih.gov/pubmed/35468734 http://dx.doi.org/10.1186/s12887-022-03227-z |
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author | Raina, Jyotdeep Kour Panjaliya, Rakesh Kumar Dogra, Vikas Sharma, Sushil Anupriya Kumar, Parvinder |
author_facet | Raina, Jyotdeep Kour Panjaliya, Rakesh Kumar Dogra, Vikas Sharma, Sushil Anupriya Kumar, Parvinder |
author_sort | Raina, Jyotdeep Kour |
collection | PubMed |
description | BACKGROUND: The risk of Congenital Heart Defects (CHD) is greatly influenced by variants within the genes involved in folate-homocysteine metabolism. Polymorphism in MTHFR (C677T and G1793A) and MS/MTR (A2756G) genes increases the risk of developing CHD risk, but results are controversial. Therefore, we conducted a case–control association pilot study followed by an up-dated meta-analysis with trial sequential analysis (TSA) to obtain more precise estimate of the associations of these two gene variants with the CHD risk. METHODS: For case–control study, we enrolled 50 CHD patients and 100 unrelated healthy controls. Genotyping was done by PCR–RFLP method and meta-analysis was performed by MetaGenyo online Statistical Analysis System software. For meta-analysis total number of individuals was as follows: for MTHFR C677T 3450 CHD patients and 4447 controls whereas for MS A2756G 697 CHD patients and 777 controls. RESULTS: Results of the original pilot study suggested lack of association for MTHFR C677T and MS A2756G polymorphism with risk of CHD whereas MTHFR G1793A was significantly associated with the disease. On performing meta-analysis, a significant association was observed with MTHFR C677T polymorphism but not with MS A2756G. Trial sequential Analysis also confirmed the sufficient sample size requirement for findings of meta-analysis. CONCLUSIONS: The results of the meta-analysis suggested a significant role of MTHFR in increased risk of CHD. |
format | Online Article Text |
id | pubmed-9036697 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-90366972022-04-26 “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” Raina, Jyotdeep Kour Panjaliya, Rakesh Kumar Dogra, Vikas Sharma, Sushil Anupriya Kumar, Parvinder BMC Pediatr Research BACKGROUND: The risk of Congenital Heart Defects (CHD) is greatly influenced by variants within the genes involved in folate-homocysteine metabolism. Polymorphism in MTHFR (C677T and G1793A) and MS/MTR (A2756G) genes increases the risk of developing CHD risk, but results are controversial. Therefore, we conducted a case–control association pilot study followed by an up-dated meta-analysis with trial sequential analysis (TSA) to obtain more precise estimate of the associations of these two gene variants with the CHD risk. METHODS: For case–control study, we enrolled 50 CHD patients and 100 unrelated healthy controls. Genotyping was done by PCR–RFLP method and meta-analysis was performed by MetaGenyo online Statistical Analysis System software. For meta-analysis total number of individuals was as follows: for MTHFR C677T 3450 CHD patients and 4447 controls whereas for MS A2756G 697 CHD patients and 777 controls. RESULTS: Results of the original pilot study suggested lack of association for MTHFR C677T and MS A2756G polymorphism with risk of CHD whereas MTHFR G1793A was significantly associated with the disease. On performing meta-analysis, a significant association was observed with MTHFR C677T polymorphism but not with MS A2756G. Trial sequential Analysis also confirmed the sufficient sample size requirement for findings of meta-analysis. CONCLUSIONS: The results of the meta-analysis suggested a significant role of MTHFR in increased risk of CHD. BioMed Central 2022-04-25 /pmc/articles/PMC9036697/ /pubmed/35468734 http://dx.doi.org/10.1186/s12887-022-03227-z Text en © The Author(s) 2022 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 Raina, Jyotdeep Kour Panjaliya, Rakesh Kumar Dogra, Vikas Sharma, Sushil Anupriya Kumar, Parvinder “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title | “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title_full | “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title_fullStr | “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title_full_unstemmed | “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title_short | “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
title_sort | “association of mthfr and ms/mtr gene polymorphisms with congenital heart defects in north indian population (jammu and kashmir): a case–control study encompassing meta-analysis and trial sequential analysis” |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036697/ https://www.ncbi.nlm.nih.gov/pubmed/35468734 http://dx.doi.org/10.1186/s12887-022-03227-z |
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