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A neuronal NO synthase (NOS1) gene polymorphism is associated with asthma
H Grasemann1, C N Yandava, K Storm van's Gravesande
1Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Biochemical and Biophysical Research Communications
|June 2, 2000
Summary
Genetic variations in the neuronal nitric oxide synthase (NOS1) gene are linked to asthma. A specific NOS1 gene polymorphism was found to be significantly associated with asthma diagnosis in a case-control study.
Area of Science:
- Genetics
- Immunology
- Respiratory Medicine
Background:
- Family-based studies suggest chromosomal region 12q is linked to asthma and high immunoglobulin E (IgE) levels.
- Neuronal nitric oxide synthase (NOS1) is a candidate gene within this region implicated in asthma.
- Genetic association studies are crucial for identifying genes contributing to complex diseases like asthma.
Purpose of the Study:
- To investigate the genetic association between a specific polymorphism in the NOS1 gene and asthma diagnosis.
- To determine if NOS1 gene alleles are associated with total serum IgE levels.
- To provide case-control evidence supporting NOS1 as a candidate gene for asthma.
Main Methods:
- A case-control study design was employed, comparing 490 asthmatic subjects with 350 control subjects.
- Genotyping focused on a CA repeat polymorphism in exon 29 of the NOS1 gene.
- Additional 1131 control subjects were genotyped to validate allele frequency findings.
Main Results:
- Significant differences in the frequencies of NOS1 alleles 17 and 18 were observed between asthmatic and control groups.
- Allele 17 was more prevalent in asthmatics (P = 0.013), while allele 18 was less common (P = 0.0004).
- No association was found between NOS1 gene alleles and total serum IgE levels.
Conclusions:
- The study provides case-control evidence supporting NOS1 as a candidate gene for asthma.
- The identified NOS1 gene polymorphism may play a role in asthma susceptibility.
- Further research is warranted to elucidate the functional mechanisms linking NOS1 to asthma pathogenesis.