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
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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