Neuronal NO synthase (NOS1) is a major candidate gene for asthma

Clin Exp Allergy. 1999 Dec:29 Suppl 4:39-41.

Abstract

Asthma is a common, but heterogeneous disease, characterized by reversible airway obstruction, bronchial hyperresponsiveness (BHR); and is commonly associated with atopy. The messenger molecule nitric oxide (NO), that is formed by neuronal NO synthase (NOS1), is known to have a key role in bronchomotor control in animals. In humans the gene for NOS1 is located on chromosome 12q24, in a region that had been shown in family studies to be linked to the diagnosis of asthma. We identified variants of the NOS1 gene, and assessed whether there was a genetic association between these variants of NOS1 and the diagnosis asthma. A total of 410 Caucasian asthma patients and 228 Caucasian controls were screened for three bi-allelic polymorphisms in the NOS1 gene that had been detected by single-stranded conformational polymorphism (SSCP) analysis and confirmed by sequencing. Allele frequencies of a polymorphism in exon 29 of the NOS1 gene were significantly different between asthmatics and controls (P<0.05). These findings suggest that variants of the NOS1 gene may be one source of genetic risk for asthma.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Asthma / genetics*
  • Exons
  • Humans
  • Mutation
  • Nitric Oxide Synthase / genetics*
  • Nitric Oxide Synthase Type I
  • Polymorphism, Single-Stranded Conformational

Substances

  • NOS1 protein, human
  • Nitric Oxide Synthase
  • Nitric Oxide Synthase Type I