Cargando…
Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis
BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 8...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8772651/ https://www.ncbi.nlm.nih.gov/pubmed/35060496 http://dx.doi.org/10.1097/MD.0000000000028293 |
_version_ | 1784635892272463872 |
---|---|
author | Ginani, Carla Talita Azevedo da Luz, Jefferson Romáryo Duarte Silva, Saulo Victor e Coppedè, Fabio Almeida, Maria das Graças |
author_facet | Ginani, Carla Talita Azevedo da Luz, Jefferson Romáryo Duarte Silva, Saulo Victor e Coppedè, Fabio Almeida, Maria das Graças |
author_sort | Ginani, Carla Talita Azevedo |
collection | PubMed |
description | BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. Maternal polymorphisms of genes required for folate metabolism are the most investigated risk factors for the birth of children with DS. Through this review, we sought to investigate the association of the polymorphisms “C677T” and “A1298C” of the MTHFR gene with maternal risk for DS. METHODS: We will use the databases PubMed, Embase, Scopus and Web of Science to search for case-control studies published from 1999 up to September 2021 without language restriction. Results will be presented as relative risks and 95% confidence intervals for dichotomous outcomes and mean differences, or standardized mean differences along with 95% confidence intervals, for continuous outcomes. The all data synthesis will be analyzed on the Review Manager 5.2 version software. RESULTS: This study will be able to clarify all the doubts we seek and that it will be able to provide accurate data that will be able to describe how these polymorphisms can act to increase the predisposition for the birth of children with DS in different populations and under different dietary conditions. CONCLUSIONS: This study will clarify the relationship between C677T and A1298C polymorphisms MTHFR gene with increased the maternal risk for Down syndrome. REGISTRATION: This systematic review and meta-analysis protocol has been registered on the Prospective Registry of International Systematic Review and Meta-analyses: CRD42021269338. |
format | Online Article Text |
id | pubmed-8772651 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-87726512022-01-21 Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis Ginani, Carla Talita Azevedo da Luz, Jefferson Romáryo Duarte Silva, Saulo Victor e Coppedè, Fabio Almeida, Maria das Graças Medicine (Baltimore) 5500 BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. Maternal polymorphisms of genes required for folate metabolism are the most investigated risk factors for the birth of children with DS. Through this review, we sought to investigate the association of the polymorphisms “C677T” and “A1298C” of the MTHFR gene with maternal risk for DS. METHODS: We will use the databases PubMed, Embase, Scopus and Web of Science to search for case-control studies published from 1999 up to September 2021 without language restriction. Results will be presented as relative risks and 95% confidence intervals for dichotomous outcomes and mean differences, or standardized mean differences along with 95% confidence intervals, for continuous outcomes. The all data synthesis will be analyzed on the Review Manager 5.2 version software. RESULTS: This study will be able to clarify all the doubts we seek and that it will be able to provide accurate data that will be able to describe how these polymorphisms can act to increase the predisposition for the birth of children with DS in different populations and under different dietary conditions. CONCLUSIONS: This study will clarify the relationship between C677T and A1298C polymorphisms MTHFR gene with increased the maternal risk for Down syndrome. REGISTRATION: This systematic review and meta-analysis protocol has been registered on the Prospective Registry of International Systematic Review and Meta-analyses: CRD42021269338. Lippincott Williams & Wilkins 2022-01-21 /pmc/articles/PMC8772651/ /pubmed/35060496 http://dx.doi.org/10.1097/MD.0000000000028293 Text en Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) |
spellingShingle | 5500 Ginani, Carla Talita Azevedo da Luz, Jefferson Romáryo Duarte Silva, Saulo Victor e Coppedè, Fabio Almeida, Maria das Graças Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title | Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title_full | Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title_fullStr | Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title_full_unstemmed | Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title_short | Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis |
title_sort | association between mthfr c677t and a1298c gene polymorphisms and maternal risk for down syndrome: a protocol for systematic review and/or meta-analysis |
topic | 5500 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8772651/ https://www.ncbi.nlm.nih.gov/pubmed/35060496 http://dx.doi.org/10.1097/MD.0000000000028293 |
work_keys_str_mv | AT ginanicarlatalitaazevedo associationbetweenmthfrc677tanda1298cgenepolymorphismsandmaternalriskfordownsyndromeaprotocolforsystematicreviewandormetaanalysis AT daluzjeffersonromaryoduarte associationbetweenmthfrc677tanda1298cgenepolymorphismsandmaternalriskfordownsyndromeaprotocolforsystematicreviewandormetaanalysis AT silvasaulovictore associationbetweenmthfrc677tanda1298cgenepolymorphismsandmaternalriskfordownsyndromeaprotocolforsystematicreviewandormetaanalysis AT coppedefabio associationbetweenmthfrc677tanda1298cgenepolymorphismsandmaternalriskfordownsyndromeaprotocolforsystematicreviewandormetaanalysis AT almeidamariadasgracas associationbetweenmthfrc677tanda1298cgenepolymorphismsandmaternalriskfordownsyndromeaprotocolforsystematicreviewandormetaanalysis |