ArticleEuropean journal of clinical nutrition2012
Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population.
Article in European journal of clinical nutrition, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Vitamin Metabolism and Its Dependency on Genetic Variations Among Healthy Adults: A Systematic Review for Precision Nutrition Strategies.Nutrients · 2025Pooled it
- Detailed analysis of gene polymorphisms associated with ischemic stroke in South Asians.PloS one · 2013Pooled it
- Homocysteine Metabolism Gene Polymorphisms (MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G) Jointly Elevate the Risk of Folate Deficiency.Nutrients · 2015Trial
- Global DNA Methylation and Cognitive Impairment: A Population-Based Study from Haryana, North India.Indian journal of clinical biochemistry : IJCB · 2025Article
- Global DNA Methylation Levels Viz-a-Viz Genetic and Biochemical Variations in One Carbon Metabolic Pathway: An Exploratory Study from North India.Biochemical genetics · 2024Article
- Hypertension and global DNA methylation: a population-based study in rural, Punjab, India.Scientific reports · 2024Article
- Combination of Taurine and Black Pepper Extract as a Treatment for Cardiovascular and Coronary Artery Diseases.Nutrients · 2023Review
- Homocysteine, Vitamin B12 and Folate Level: Possible Risk Factors in the Progression of Chronic Heart and Kidney Disorders.Current cardiology reviews · 2023Article
- Incidence and determinants of hysterectomy among North Indian women: An 8-year follow-up study.Frontiers in public health · 2022Article
- Methylenetetrahydrofolate Reductase GeneFrontiers in cardiovascular medicine · 2021Article
- Key Characteristics of Nitrous Oxide-Induced Neurological Disorders and Differences Between Populations.Frontiers in neurology · 2021Article
- Can the genetic polymorphisms of the folate metabolism have an influence in the polycystic ovary syndrome?Archives of endocrinology and metabolism · 2019Article
- Metabolic distress in lipid & one carbon metabolic pathway through low vitamin B-12: a population based study from North India.Lipids in health and disease · 2018Article
- Distribution ofIndian journal of clinical biochemistry : IJCB · 2017Article
- Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.Molecular and clinical oncology · 2017Article
- 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
- The study of association between reduced folate carrier 1 (BioImpacts : BI · 2017Article
- Article
- Haemoglobinopathies in eastern Indian states: a demographic evaluation.Journal of community genetics · 2015Article
- Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.Journal of genetics · 2014Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesUnlike most Western populations, MTHFR 677T is a rare allele and a risk factor for a variety of disorders in India. What kind of nutritional (environmental) and/or genetic factors could contribute to the genetic risk is not known. To assess the incidence of hyperhomocysteinemia and its correlation with the polymorphism in homocysteine (Hcy)-pathway genes and associated cofactors in the native populations of eastern India. SUBJECTS/
methodsHealthy population from four eastern states of India. Genotyping of SNPs, HPLC and chemiluminescence-based assay for homocysteine, vitamin B12 and folic acid.
resultsApproximately 30% of the population has hyperhomocysteinemia (>15 μmol/lit; hypHcy) with varying frequencies in the four states from where samples were collected (n=1426). Polymorphisms of MTR and CBS do not affect hypHcy. 677T and 1298C alleles of MTHFR and G80 RFC-1 show association with hypHcy. In contrast, RFC-1 80AA is protective even in presence of 677T MTHFR. Addition of each mutant allele has an additive effect on Hcy level. Vitamin B12 (cofactor in methionine synthesis) clearly modulates the genotypic effect on Hcy level. Although frequency of individuals with low folic acid is ≈11, 49% of the population is vitamin B12 deficient (<220 pg/lit) and has a significant negative correlation with Hcy. Individuals with optimum vitamin B12 and folic acid generally have low Hcy, even in risk genotypes.
conclusionsOne of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. Apparently, supplementation of vitamin B(12) to this health-impoverished community may help lessen the risk of several multifactorial disorders.
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