title: MTHFR gene polymorphism and its relationship with plasma homocysteine and folate in a North Indian population.
abstract: There is a paucity of data on the prevalence of elevated homocysteine and its relation with plasma folate and the methylenetetrahydrofolate reductase (MTHFR) gene in the population of North India. This study evaluates MTHFR gene polymorphism and its relationship with plasma homocysteine and folate levels in a healthy North Indian population. The age of the 200 subjects included in this study was in the range 18-73 (mean 39.4) years. The plasma homocysteine level was elevated in 56.5%, and the plasma folate level was low in 49.5% of the subjects. Heterozygous MTHFR gene polymorphism (CT) was present in 15.5%, and homozygous (TT) in 3.5% of the subjects. Age, diet, and MTHFR gene polymorphisms were related to homocysteine level. All the subjects with the TT and 79% with the CT genotype had a high level of plasma homocysteine, whereas 51% with the CC genotype had a high homocysteine level. After adjustment for the effect of covariates, however, homocysteine was not related to MTHFR gene polymorphism.
authors.affiliation: Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareily Road, Lucknow 226014, India. ukmisra@sgpgi.ac.in
authors.forename: Usha Kant
authors.initials: UK
authors.lastname: Misra
authors.forename: Jayantee
authors.initials: J
authors.lastname: Kalita
authors.forename: Amit Kumar
authors.initials: AK
authors.lastname: Srivastava
authors.forename: Suraksha
authors.initials: S
authors.lastname: Agarwal
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D004252:DNA Mutational Analysis; D005247:Feeding Behavior / Q000502:physiology; D005260:Female; D005492:Folic Acid / Q000097:blood*; D005828:Genetics, Population; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D014805:Vitamin B 12 / Q000097:blood; D055815:Young Adult
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12