RGD Reference Report - MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. - Rat Genome Database

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MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease.

Authors: Hatzlhofer, BL  Bezerra, MA  Santos, MN  Albuquerque, DM  Freitas, EM  Costa, FF  Araujo, AS  Muniz, MT 
Citation: Hatzlhofer BL, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1038-43. doi: 10.1089/gtmb.2011.0361. Epub 2012 Aug 27.
RGD ID: 10449403
Pubmed: PMID:22924497   (View Abstract at PubMed)
DOI: DOI:10.1089/gtmb.2011.0361   (Journal Full-text)

Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). The mechanisms involved in the pathogenesis of vascular complications in SCA remain unclear. It is known that genetic polymorphisms associated with thrombophilia may be potential modifiers of clinical features of SCA. The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G-->A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study. The aim was to find possible correlations with vascular complications and thrombophilia markers in a group of SCA patients in Pernambuco, Brazil. The study included 277 SCA patients, divided into two groups: one consisting of 177 nonconsanguineous SCA patients who presented vascular manifestations of stroke, avascular necrosis, leg ulcers, priapism, and acute chest syndrome (group 1); and the other consisting of 100 SCA patients without any reported vascular complication (group 2). Molecular tests were done using either polymerase chain reaction (PCR) restriction fragment length polymorphism or allele-specific PCR techniques. Comparisons between the groups were made using the chi(2) test. The 677 CT and TT genotypes showed a significant risk of vascular complications (p=0.015). No significant associations between the groups were found when samples were analyzed for the MTHFR A1298C allele (p=0.913), Factor V G1691 (p=0.555), or prothrombin G20210A mutation (p=1.000). The polymorphism MTHFR C677T seemed to be possibly predictive for the development of some vascular complications in SCA patients among this population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MTHFRHumansickle cell anemia no_associationIAGP DNA:SNP: :1298A>C (human)RGD 
MTHFRHumansickle cell anemia severityIAGP DNA:SNP: :677C>T (human)RGD 
MthfrRatsickle cell anemia no_associationISOMTHFR (Homo sapiens)DNA:SNP: :1298A>C (human)RGD 
MthfrRatsickle cell anemia severityISOMTHFR (Homo sapiens)DNA:SNP: :677C>T (human)RGD 
MthfrMousesickle cell anemia no_associationISOMTHFR (Homo sapiens)DNA:SNP: :1298A>C (human)RGD 
MthfrMousesickle cell anemia severityISOMTHFR (Homo sapiens)DNA:SNP: :677C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information