RGD Reference Report - Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India. - Rat Genome Database

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Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India.

Authors: Nishank, SS  Singh, MP  Yadav, R  Gupta, RB  Gadge, VS  Gwal, A 
Citation: Nishank SS, etal., J Hum Genet. 2013 Dec;58(12):775-9. doi: 10.1038/jhg.2013.99. Epub 2013 Oct 3.
RGD ID: 11533647
Pubmed: PMID:24088668   (View Abstract at PubMed)
DOI: DOI:10.1038/jhg.2013.99   (Journal Full-text)

Patients with sickle cell disease (SCD) produce significantly low levels of plasma nitric oxide (NO) during acute vaso-occlusive crisis. In transgenic sickle cell mice, NO synthesized by endothelial nitric oxide synthase (eNOS) enzyme of vascular endothelial cells has been found to protect the mice from vaso-occlusive events. Therefore, the present study aims to explore possible association of eNOS gene polymorphism as a potential genetic modifier in SCD patients. A case control study involving 150 SCD patients and age- and ethnicity-matched 150 healthy controls were genotyped by PCR-restriction fragment length polymorphism techniques for three important eNOS gene polymorphisms-eNOS 4a/b, eNOS 894G>T and eNOS -786T>C. It was observed that SCD patients had significantly higher frequencies of mutant alleles besides heterozygous and homozygous mutant genotypes of these three eNOS gene polymorphisms and low levels of plasma nitrite (NO2) as compared with control groups. The SCD severe group had significantly lower levels of plasma NO2 and higher frequencies of mutant alleles of these three SNPs of eNOS gene in contrast to the SCD mild group of patients. Haplotype analysis revealed that frequencies of one mutant haplotype '4a-T-C' (alleles in order of eNOS 4a/b, eNOS 894G>T and eNOS -786T>C) were significantly high in the severe SCD patients (P<0.0001), whereas the frequency of a wild haplotype '4b-G-T' was found to be significantly high (P<0.0001) in the SCD mild patients, which indicates that eNOS gene polymorphisms are associated with SCD patients in India and may act as a genetic modifier of the phenotypic variation of SCD patients.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOS3Humansickle cell anemia severityIAGP DNA:polymorphisms more ...RGD 
Nos3Ratsickle cell anemia severityISONOS3 (Homo sapiens)DNA:polymorphisms more ...RGD 
Nos3Mousesickle cell anemia severityISONOS3 (Homo sapiens)DNA:polymorphisms more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nos3  (nitric oxide synthase 3)

Genes (Mus musculus)
Nos3  (nitric oxide synthase 3, endothelial cell)

Genes (Homo sapiens)
NOS3  (nitric oxide synthase 3)


Additional Information