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.

Association of Graded Folic Acid Supplementation and Total Plasma Homocysteine Levels With Hematological Toxicity During First-line Treatment of Nonsquamous NSCLC Patients With Pemetrexed-based Chemotherapy

“…In the current study, group creation based upon tpHcy levels was carried out keeping in view the previous publications from North India that involved assessment of tpHcy among normal individuals or patients without overt cardiovascular disease. [22][23][24] In these studies including one from the authors' institute, majority of the subjects (80% to 90%) had tpHcy levels, which were either normal or <2.0 ULN. In the current study also, only 10.8% patients had tpHcy > 2.0 ULN.…”

“…On the basis of tpHcy levels, categorization was done into one of the following: less than upper limit of normal (ULN) (< ULN), equal to ULN or elevation upto 2 times ULN (1.0 to 2.0 ULN), and >2 times ULN ( > 2.0 ULN). [22][23][24] Patients got the tpHcy assay at the same time that they got the routine hematological and biochemical tests done at baseline, before the fourth cycle of chemotherapy and following completion of chemotherapy. The tpHcy assay run time was approximately 35 minutes with normal value of tpHcy being <15 mM/L.…”

Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case–control study in a Northern Indian population

“…In the present study homocysteine was higher with TT and CT genotypes compared to CC genotype in patients with ischemic stroke. We have also reported elevated levels of homocysteine with TT genotype in ischemic stroke, and normal healthy subjects of Northern India, although association of raised homocysteine was not found to be statistically significant [17,33]. The requirement of 5-methyl tetrahydrofolate as a methyl group donor for conversion of methionine to homocysteine might explain the rise of Hcy in patients with CT and TT genotypes.…”

Serum Homocysteine, Vitamin B12, Folic Acid Levels and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism in Vitiligo

“…5-methyl THF acts as a methyl donor during synthesis of methionine from Hcy. In case of genetic polymorphism, MTHFR enzyme activity decreases and failure to synthesize methionine from Hcy causes Hcy levels to increase [12]. Folic acid, vitamin B12 and vitamin B6 deficiencies and reduced enzyme activities decrease catabolism of Hcy and cause an increase in the intracellular Hcy concentration [17].…”