Literature DB >> 12032275

Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome.

Bernadette Chadefaux-Vekemans1, Marie Coudé, François Muller, Jean François Oury, Allel Chabli, Jean Jaïs, Pierre Kamoun.   

Abstract

A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and found no difference in the frequencies of the three groups of subjects (C/C, C/T, T/T) between Down syndrome mothers and controls.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12032275     DOI： 10.1203/00006450-200206000-00018

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  9 in total

1.  Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey.

Authors:  Márcia R Amorim; Eduardo E Castilla; Iêda M Orioli
Journal:  BMJ       Date:  2003-12-08

2.  Maternal folate polymorphisms and the etiology of human nondisjunction.

Authors:  T J Hassold; L C Burrage; E R Chan; L M Judis; S Schwartz; S J James; P A Jacobs; N S Thomas
Journal:  Am J Hum Genet       Date:  2001-07-05       Impact factor: 11.025

3.  Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

Authors:  Amandeep Kaur; Anupam Kaur
Journal:  J Genet       Date:  2016-09       Impact factor: 1.166

4.  MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers.

Authors:  Amit Kumar Rai; Satya Singh; Stuti Mehta; Ashok Kumar; L K Pandey; Rajiva Raman
Journal:  J Hum Genet       Date:  2006-02-18       Impact factor: 3.172

5.  Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.

Authors:  Marcelo Aguiar Costa-Lima; Márcia Rodrigues Amorim; Iêda Maria Orioli
Journal:  Mol Biol Rep       Date:  2012-11-25       Impact factor: 2.316

6.  Primary prevention of Down's syndrome.

Authors:  Howard S Cuckle
Journal:  Int J Med Sci       Date:  2005-07-01       Impact factor: 3.738

Review 7.  The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Authors:  Fabio Coppedè
Journal:  Front Genet       Date:  2015-06-25       Impact factor: 4.599

8.  Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.

Authors:  Vandana Rai; Upendra Yadav; Pradeep Kumar; Sushil Kumar Yadav; Om Prakesh Mishra
Journal:  PLoS One       Date:  2014-09-29       Impact factor: 3.240

9.  Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome.

Authors:  Pankaj K Mohanty; Seema Kapoor; Anand P Dubey; Sanjeev Pandey; Renuka Shah; Hemant K Nayak; Sunil K Polipalli
Journal:  Indian J Hum Genet       Date:  2012-09
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.