Asthma is a common, but heterogeneous disease, characterized by reversible
airway obstruction, bronchial hyperresponsiveness (BHR); and is commonly as
sociated with atopy. The messenger molecule nitric oxide (NO), that is form
ed by neuronal NO synthase (NOS1), is known to have a key role in bronchomo
tor control in animals. In humans the gene for NOS1 is located on chromosom
e 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 asses
sed whether there was a genetic association between these variants of NOS1
and the diagnosis asthma. A total of 410 Caucasian asthma patients and 238
Caucasian controls were screened for three bi-allelic polymorphisms in the
NOS1 gene that had been detected by single-stranded conformational polymorp
hism (SSCP) analysis and confirmed by sequencing. Allele frequencies of a p
olymorphism in exon 29 of the NOS1 gene were significantly different betwee
n asthmatics and controls (P < 0.05). These findings suggest that variants
of the NOS1 gene may be one sourer of genetic risk for asthma.