ArticleJournal of human genetics2006
MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 5 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 5 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.Journal of genetics · 2016Pooled it
- Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.Molecular biology reports · 2014Pooled it
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.Molecular biology reports · 2013Pooled it
- Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis.Journal of human genetics · 2007Pooled it
- Fission Yeast Methylenetetrahydrofolate Reductase Ensures Mitotic and Meiotic Chromosome Segregation Fidelity.International journal of molecular sciences · 2021Article
- Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.European journal of clinical nutrition · 2017Article
- Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.Cellular and molecular life sciences : CMLS · 2016Review
- Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.Molecular biology reports · 2016Article
- The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.Frontiers in genetics · 2015Review
- MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.PloS one · 2014Article
- Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.Indian journal of human genetics · 2013Article
- Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: is homocysteine a factor?Journal of biosciences · 2013Article
- 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.Indian journal of human genetics · 2012Article
- Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.Molecular biology reports · 2012Article
- Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population.European journal of clinical nutrition · 2012Article
- Haplotype analysis of the 5,10-methylenetetrahydrofolate reductase (MTHFR) c.1298A>C (E429A) polymorphism.BMC research notes · 2011Article
- Frequency of the Methylenetetrahydrofolate REDUCTASE 677CT and 1298AC mutations in an Iranian Turkish female population.Maedica · 2010Article
- MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India.Indian journal of human genetics · 2009Article
- Risk of Down syndrome conferred by MTHFR C677T polymorphism: Ethnic variations.Indian journal of human genetics · 2007Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme. Three hundred and fourteen mothers (with DS children and controls), mostly from the eastern states of India, were genotyped for the two above-mentioned SNPs. Significant association with both of these SNPs were detected, more specifically, in the mothers of DS children homozygous for the polymorphic alleles 677 T and 1298 C. The relative risk of T (C677T) and C (A1298C) homozygosity in mothers for DS-affected pregnancy was 7 (OR 7.67, 95% CI 1.67-35.08, P=0.003) and 4 (OR 4.40, 95% CI 1.45-13.26, P=0.008), respectively. Moreover, all 677TT mothers studied were less than 31 years of age, whereas no correlation with maternal age was observed for A1298C genotypes. Interestingly, all of the young 677TT mothers had either a first- or secondborn child with DS. Thus, this study reports that young Indian mothers with TT genotypes are genetically predisposed to nondisjunction due to abnormal folate metabolism.
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