Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.

  title={Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.},
  author={Sally L Chappell and Leslie Daly and Kevin A Morgan and Tamar Guetta Baranes and Josep Roca and Roberto Rabinovich and Ann B. Millar and Seamas Donnelly and Vera Keatings and W. MacNee and Jan Stolk and Pieter S Hiemstra and Massimo Miniati and Simonetta Monti and Clare M O'Connor and Noor A. Kalsheker},
  journal={Human mutation},
  volume={27 1},
Chronic obstructive pulmonary disease (COPD) is a major cause of mortality and morbidity worldwide. While cigarette smoking is a major cause of COPD, only 15% of smokers develop the disease, indicating major genetic influences. The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role. To detect cryptic genetic variants that might contribute to disease, we identified 15 SNP haplotype tags from high-density SNP maps of the… CONTINUE READING
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