Nitric Oxide Synthase 3

Alternative Names

  • NOS3
  • Nitric Oxide Synthase, Endothelial
  • ENOS
  • Coronary Artery Spasm 1, Susceptibility to
  • Alzheimer Disease, Late-Onset, Susceptibility to
  • Hypertension, Pregnancy-Induced, Susceptibility to
  • Hypertension Resistant To Conventional Therapy
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OMIM Number

163729

NCBI Gene ID

4846

Uniprot ID

P29474

Length

23,572 bases

No. of Exons

28

No. of isoforms

3

Protein Name

Nitric oxide synthase, endothelial

Molecular Mass

133275 Da

Amino Acid Count

1203

Genomic Location

chr7:150,991,016-151,014,587

Gene Map Locus
7q36.1

Description

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000007.14:g.150983418= United Arab EmiratesNC_000007.14:g.150983418=AssociationType 2 Diabetes Mellitus4496877
NM_000603.5:c.2685+113=United Arab EmiratesNC_000007.14:g.151010400=AssociationType 2 Diabetes MellitusNG_011992.1:g.24342=; NM_000603.5:c.2685+113=743507
NM_000603.5:c.2984+228=United Arab EmiratesNC_000007.14:g.151011214=AssociationType 2 Diabetes MellitusNG_011992.1:g.25156=; NM_000603.5:c.2984+228=1808593
NM_000603.5:c.894=LebanonNC_000007.14:g.150999023=Uncertain SignificanceHypertension, EssentialNG_011992.1:g.12965=; NM_000603.5:c.894=; NP_000594.2:p.Asp298=1799983

Other Reports

Algeria

Djidjik et al. (2008) investigated the role of NOS1 -84 G>A and NOS3 -786 T>C, 894 G>T and 27 base pair (bp) repeat polymorphisms in 125 patients suffering from asthma and/or rhinitis and mono-sensitized against Dermatophagoides pteronyssinus (Dpter) and 111 controls from Algeria. Results indicated a higher frequency of the -786 C NOS3 allele in patients than in controls [corrected P value (Pc) = 0.04], especially in female cases (Pc = 0.02) and that the 'ab' genotype of the 27-bp polymorphism was significantly associated with specific immunoglobulin E production against Dpter (P = 0.006) and demonstrating a possible participation of NOS3 gene polymorphism in the pathogenesis of respiratory allergic disorders.

Kuwait

Alfadhli et al. (2008) investigated evidence for the association of eNOS gene polymorphism with alopecia areata (AA). Genomic DNA was extracted from 176 subjects, 87 Kuwaiti AA patients and 89 matched (for ethnicity, gender and age) healthy controls. A significant association was found between the intron-4 27 bp-VNTR and AA, where 4b was identified as the risk allele had (chi(2) = 4.42, p = 0.035, OR = 2.03). Genotype (4b/4b) was found to have a significant association with susceptibility to AA and had a frequency of 22% higher in AA patients than in healthy controls (71 vs 49%) and a chi(2) = 6.39, (p = 0.011, OR = 2.63). Alfadhli et al. (2008) concluded that a significant association of a polymorphism within the eNOS gene and susceptibility to AA was found.

Saudi Arabia

Ali et al. (2013) partly investigated the association of the eNOS G894T (p.E298D) polymorphism with hypertension in Saudi subjects.  This study involved 250 controls and 120 cases with hypertension, among which 51 were obese and diabetic.  Genotypic and allelic frequencies were obtained through a PCR-based reaction assay using hybridization probes specific to the polymorphic variant.  All cases showed no difference in the carrier frequency of the mutant eNOS p.E298D allele relative to controls.  Hypertensive cases with obesity and diabetes showed a higher carrier frequency of the mutant p.E298D allele than controls, albeit with no significance (p=0.34).  Filtering hypertensive cases with combined genotypes of the ACE insertion/Deletion and eNOS p.E298D alleles, only the mutant ACE D allele showed significant association.  Genotype data was filtered through gender, age, parental consanguinity, and smoking, each of which showed no significant association with susceptibility to hypertension (p>0.05).  Results suggest that the eNOS p.E298D variant does not predispose to hypertension.

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