Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies

CTA Ginani, JRD da Luz, KS de Medeiros… - … Research/Reviews in …, 2023 - Elsevier
Background Several studies around the world support the hypothesis that genetic
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …

[HTML][HTML] General Dietary Recommendations for People with Down Syndrome

J Gruszka, D Włodarek - Nutrients, 2024 - mdpi.com
Down syndrome (DS) is caused by trisomy of chromosome 21 and is associated with
characteristic features of appearance, intellectual impairment to varying degrees, organ …

[HTML][HTML] Association of methylenetetrahydrofolate reductase gene polymorphism in mothers with adverse clinical outcomes in neonates

DD Panigrahi, S Patel, S Rajbhar, P Padhi, S Shah… - Cureus, 2023 - ncbi.nlm.nih.gov
Background: The presence of polymorphic methylenetetrahydrofolate reductase (MTHFR) in
mothers poses a risk for numerous detrimental outcomes in neonates. The present study …

Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children

A Kaur, A Kaur - Tzu Chi Medical Journal, 2022 - journals.lww.com
Objectives: Folates are essential nutrients required for the synthesis of DNA/RNA in cell
division and segregation. Folates are reduced and methylated in the liver with the help of …

Methylenetetrahydrofolate reductase Dimer configuration as a risk factor for maternal meiosis i-derived trisomy 21

J Vraneković, I Babić Božović, I Bilić Čače… - Human …, 2021 - karger.com
Background: Evidence suggests that the dimer configuration of methylenetetrahydrofolate
reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the …

Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy

O Miljanović, S Teofilov, M Anđelić, Z Magić… - Prenatal …, 2022 - Wiley Online Library
Objective The objective was to investigate the association between maternal
methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, crucial for DNA …

Association of MTHFR C677T polymorphism with risk of preterm birth in Indian mothers: a case–control study

P Rathod, A Desai, D Chandel - Egyptian Journal of Medical Human …, 2023 - Springer
Background Since MTHFR is the key enzyme in folate metabolism, its reduction can lead to
hyperhomocysteinemia, which can have a negative impact on pregnancy outcome …

[HTML][HTML] Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Gene Polymorphism as Risk Factors for Essential Hypertension

TM Pratamawati, I Alwi… - International Journal of …, 2022 - ijtech.eng.ui.ac.id
Hypertension has relatively large morbidity and mortality rates throughout the world,
including in Indonesia. The prevalence of hypertension tends to be greater in patients with a …

MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea

PM Sanghavi, D Chandel - Egyptian Journal of Medical Human Genetics, 2024 - Springer
Background Abnormal folate metabolism is a risk factor for DNA hypomethylation and
chromosomal nondisjunction. MTHFR is a candidate gene for folliculogenesis and ovarian …

Assessment of Cytogenetic Findings and Risk Factors in Females with Primary Amenorrhea

P Sanghavi, D Chandel - Gynäkologie in der Praxis, 2024 - Springer
Primary amenorrhea (PA) is a heterogenous condition with multifactorial etiologies and
cannot be established with single diagnostic criterion. We have attempted to assess several …