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

From: Genetic polymorphisms in lung disease: bandwagon or breakthrough?

Disease Reference Summary
ARDS   
   Polymorphisms of human SP-A, SP-B and SP-D genes: association of SPB Thr131ILE with ARDS [40] 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 [41] 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 [42] -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 [43] 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 [44] 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 [45] 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 [46] 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 [47] 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 [48] 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 [49] 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 [50] 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 [28] 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 [51] 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 [52] 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 [53] CCR5Delta32 and CCR2-64I were found associated with sarcoidosis
Silicosis   
   Polymorphisms of the IL-1 gene complex in coal miners with silicosis [54] This is the first report showing an association between the IL-1 receptor antagonist polymorphism and silicosis
  1. PEF, Peak expiratory flow; ARDS, acute respiratory distress syndrome; COPD, chronic obstructive pulmonary disease; HLA, human leukocyte antigen; IL, interleukin; TNF, tumor necrosis factor.