ArticleMolecular biology reports2012
Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India.
Article in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Pooled it
- Transmethylation and Oxidative Biomarkers in Children with Autism Spectrum Disorder: A Cross Sectional Study.Journal of autism and developmental disorders · 2026Article
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- Methylenetetrahydrofolate reductase gene polymorphism, global DNA methylation and blood pressure: a population based study from North India.BMC medical genomics · 2021Article
- Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.Indian journal of clinical biochemistry : IJCB · 2020Article
- Effectiveness of community-based folate-oriented tertiary interventions on incidence of fetus and birth defects: a protocol for a single-blind cluster randomized controlled trial.BMC pregnancy and childbirth · 2020Article
- MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study.BMC medical genetics · 2019Article
- Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.Neuropsychiatric disease and treatment · 2019Article
- Association of Single Nucleotide Polymorphisms (SNPs) in Genes Encoding for Folate Metabolising Enzymes with Glioma and Meningioma in Indian PopulationAsian Pacific journal of cancer prevention : APJCP · 2018Article
- Prevalence of factor V leiden, MTHFR C677T and MTHFR A1298C polymorphisms in patients with deep vein thrombosis in Central Iran.Molecular biology reports · 2018Article
- Distribution ofIndian journal of clinical biochemistry : IJCB · 2017Article
- Article
- Adaptive developmental plasticity in methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism limits its frequency in South Indians.Molecular biology reports · 2014Article
- The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.BioMed research international · 2014Article
- A Study on MTHFR C677T Gene Polymorphism and Alcohol Dependence among Meiteis of Manipur, India.Journal of biomarkers · 2014Article
- Article
- 5-HTTLPR andIndian journal of psychiatryArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.
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