Table 1 Examples of recently published studies of polymorphisms in lung disease

ARDS

   Polymorphisms of human SP-A, SP-B and SP-D genes: association of SPB Thr131ILE with ARDS

Data presented suggest that SP-B or a linked gene contributes to susceptibility to ARDS

Asthma

   Effect of polymorphism of the β-2-adrenergic receptor on response to regular use of albuterol in asthma

Arg/Arg subjects who used albuterol regularly had AM PEF lower than Arg/Arg patients who had used albuterol as needed only. Subjects homozygous for glycine at β-2-adrenergic receptor-16 showed no such decline

   Association of a promoter polymorphism of the CD14 gene and atopy

-159 C to T promoter polymorphism in the CD14 gene was found associated with expression of a more severe allergic phenotype

   The role of the C-C chemokines receptor-5 Delta32 polymorphism in asthma and in the production of regulated on activation, normal T cells expressed and secreted

Data indicate that the CCR5^*D32 allele is not a genetic risk factor for the development of asthma and does not influence disease severity nor influence RANTES production

COPD

   TNF-α gene promoter polymorphism in COPD

TNF gene promoter allele was not found to influence the risk of developing COPD in a Caucasian population of smokers and there was no association with severity of airflow obstruction

   A polymorphism in the TNF-α gene promoter region may predispose to a poor prognosis in COPD

Homozygosity for adenine substitution polymorphism at position –308 was found associated with more severe airflow obstruction and a worse prognosis

   Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema

Findings suggest that the large size of a GT(n) repeat in the heme oxygenase-1 gene promoter may reduce the gene's inducibility by reactive oxygen species in cigarette smoke, thus resulting in emphysema

Cystic fibrosis

   HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype

DR7 allele was significantly associated with an increase in total IgE and Pseudomonas aeruginosa colonization in cystic fibrosis patients

   An α1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis

An enhancer polymorphism in the AAT gene was found associated with better pulmonary prognosis in cystic fibrosis patients

Hypersensitivity pneumonitis

   Major histocompatibility complex and TNF-α polymorphisms in pigeon breeder's disease

Results suggest that genetic factors located with the major histocompatibility complex region contribute to the development of pigeon breeder's disease

   TNF-α-308 promoter gene polymorphism and increased TNF serum bioactivity in farmer's lung patients

The frequency for the TNFA2 allele, a genotype associated with high TNF-α production in vitro, was significantly higher in farmer's lung patients

Idiopathic pulmonary fibrosis

   Analysis of TNF-α, lymphotoxin alpha, TNF receptor II, and IL-6 polymorphisms in patients with idiopathic pulmonary fibrosis

This is the first paper to suggest that disease progression in idiopathic pulmonary fibrosis may be linked to a particular genetic marker or to functional polymorphisms

Sarcoidosis

   HLA-Gm/κ interaction in sarcoidosis. Suggestions for a complex genetic structure

This study addresses the interplay between IgG heavy chain/κ light chain markers and major histocompatibility complex genes

   Lack of association with IL-1 receptor antagonist and IL-1β gene polymorphisms in sarcoidosis patients

No bias in the IL-1 receptor antagonist and IL-1β genotype was found in Japanese sarcoidosis patients

   CC chemokine receptor gene polymorphisms in Czech patients with pulmonary sarcoidosis

CCR5Delta32 and CCR2-64I were found associated with sarcoidosis

Silicosis

   Polymorphisms of the IL-1 gene complex in coal miners with silicosis

This is the first report showing an association between the IL-1 receptor antagonist polymorphism and silicosis