Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes
Autor: | Ieler Ferreira Ribeiro, F M Amaral, Graciana Souza Lordelo, Cesar Koppe Grisolia, Ana Luisa Miranda-Vilela, M B Daldegan |
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Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Male Linkage disequilibrium Homocysteine Linkage Disequilibrium chemistry.chemical_compound 0302 clinical medicine Gene Frequency Risk Factors Genotype Medicine Thrombophilia 030212 general & internal medicine biology Homozygote General Medicine Middle Aged Vitamin B 12 Female Brazil Adult medicine.medical_specialty Heterozygote Adolescent Cystathionine beta-Synthase Polymorphism Single Nucleotide 03 medical and health sciences Young Adult Folic Acid Internal medicine Genetics Humans Genetic Predisposition to Disease Vitamin B12 Molecular Biology Allele frequency Methylenetetrahydrofolate Reductase (NADPH2) 030102 biochemistry & molecular biology business.industry Haplotype Epistasis Genetic Thrombosis Cystathionine beta synthase Endocrinology Cross-Sectional Studies chemistry Methylenetetrahydrofolate reductase biology.protein business |
Zdroj: | Genetics and molecular research : GMR. 16(1) |
ISSN: | 1676-5680 |
Popis: | High plasma homocysteine (Hcy) levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy. Except for the CBS G919A polymorphism, all other genetic markers were in Hardy-Weinberg equilibrium. An increased risk for venous thrombosis was found for the MTHFR 1298CC carriers (OR = 1.688; 95%CI = 0.839-3.398, P = 0.018) and those homozygously mutant for the CBS haplotype 844ins68/T833C (OR = 2.488; 95%CI = 0.501-12.363, P = 0.031), while heterozygous for this CBS haplotype showed an increased risk for higher Hcy levels (OR = 5.900; 95%CI = 1.003-34.691, P = 0.030). Significant interactions were observed among the MTHFR C677T, MTHFR A1298C and CBS haplotype 844ins68/T833C polymorphisms in the results for Hcy levels (P = 0.000), where heterozygous had higher values. Interactions among these polymorphisms can affect serum Hcy levels, where multiple heterozygosis could be a risk factor for vaso-occlusive episodes. |
Databáze: | OpenAIRE |
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