title: Erythrocyte volume, folate levels, and the presence of methylenetetrahydrofolate reductase polymorphism.
abstract: Homozygosity for a common polymorphism in the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene (C677T) has been associated to an increased risk of neural tube defects as well as derangements in folate, homocysteine, and hematological parameters. This study analyzed the relationship between folate levels, the erythrocyte volume, and the presence of homozygosity for the C677T polymorphism in a group of 126 Puerto Rican healthy women of childbearing age. Blood samples were analyzed for erythrocyte mean corpuscular volume (MCV), mean erythrocyte hemoglobin content (MCH), folate, and RBC folate. Homozygosity for the C677T mutation was determined by PCR. Thirty-two percent (32%) of women used a folic acid supplement during the three months prior to sampling. Mean folate and RBC folate levels were within the normal range. Individuals homozygous for the MTHFR C677T polymorphism had no elevation of MCV (p = 0.70) or MCH (p = 0.68). Women in the lower quartile of folate levels did not show differences in their MCV or MCH. In this sample of Puerto Rican women, homozygosity for the C677T MTHFR polymorphism was not associated to elevations of MCV or MCH even in the presence of lower folate levels.
authors.affiliation: Department of Pediatrics, Neonatology Section, Medical Sciences Campus, University of Puerto Rico, GPO Box 365067, San Juan, PR, USA. nicu@coqui.net
authors.forename: Inés
authors.initials: I
authors.lastname: García-García
authors.forename: Lourdes
authors.initials: L
authors.lastname: García-Fragoso
authors.forename: Jessicca
authors.initials: J
authors.lastname: Renta
authors.forename: Sylvia
authors.initials: S
authors.lastname: Arce
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
mesh_terms: D000328:Adult; D004911:Erythrocyte Volume; D005260:Female; D005492:Folic Acid / Q000097:blood*; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)