Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple... - PubMed - NCBI

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple... - PubMed - NCBI

Genet Mol Res. 2017 Feb 23;16(1). doi: 10.4238/gmr16019374.

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.

Amaral FM1,2, Miranda-Vilela AL3, Lordelo GS2,3, Ribeiro IF3,4, Daldegan MB2, Grisolia CK5.

Author information

Abstract

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.

PMID:

 

28252168

 

DOI:

 

10.4238/gmr16019374

[Indexed for MEDLINE]

From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

---

• Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine ?-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.  
  Genetics and molecular research : GMR 2017 Feb 16 (1): .
  Amaral F M, Miranda-Vilela A L, Lordelo G S, Ribeiro I F, Daldegan M B, Grisolia C
• Identification of Genetic Aberrations in Thrombomodulin Gene in Patients With Recurrent Venous Thromboembolism.  
  Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2017 Jan 1076029616686716.
  Ahmad Abrar, Sundquist Kristina, Zöller Bengt, Svensson Peter J, Sundquist Jan, Memon Ashfaque
• Prothrombin polymorphism A19911G, factor V HR2 haplotype A4070G, and plasminogen activator-inhibitor-1 polymorphism 4G/5G and the risk of retinal vein occlusion.  
  Ophthalmic genetics 2017 Jan 1-5.
  Kuhli-Hattenbach Claudia, Hellstern Peter, Nägler Dorit Karin, Kohnen Thomas, Hattenbach Lars-Ol
• The contribution of hereditary thrombophilia to increasing the frequency of thrombosis in patients with Ph negative myeloproliferative neoplasms, including the victims from the Chornobyl accident.  
  Problemy radiatsiinoi medytsyny ta radiobiolohii 2016 Dec 21 291-311.
  Mishcheniuk O Y, Shkarupa V M, Kostukevich O M, Neumerzhitcka L V, Kravchenko S M, Klymenko S
• Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations.  
  Human fertility (Cambridge, England) 2016 Nov 1-8.
  Djurovic Jelena, Stojkovic Oliver, Todorovic Jelena, Brajic Aleksandra, Stankovic Sanja, Obradovic Svetlana, Stamenkovic Gora

more