Banca de QUALIFICAÇÃO: CARLA TALITA AZEVEDO GINANI

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : CARLA TALITA AZEVEDO GINANI
DATE: 07/03/2022
TIME: 14:30
LOCAL: DEFESA REMOTA - https://meet.google.com/kcc-vhuf-cmb
TITLE:

ASSOCIATION BETWEEN MTHFR C677T AND A1298C GENE POLYMORPHISMS AND MATERNAL RISK FOR DOWN SYNDROME: A PROTOCOL FOR A SYSTEMATIC REVIEW AND/OR META-ANALYSIS

KEY WORDS:

Down syndrome; gene polymorphism; genetic polymorphism; folate metabolism.

PAGES: 14
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUMMARY:

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% CI 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.

BANKING MEMBERS:
Interna - 1199080 - ANA KATHERINE DA SILVEIRA GONCALVES DE OLIVEIRA
Externa à Instituição - KARLA SIMONE COSTA DE SOUZA - UFRN
Presidente - 346847 - MARIA DAS GRACAS ALMEIDA THORNTON