Istituto di Fisiologia Clinica     
Chappel S., Daly L., Morgan K., Guetta Baranes T., Roca J., Rabinovich R., Millar A., Donnelly S., Keatings V., Macnee W., Stolk J., Hiemstra P., Miniati M., Monti S., O'Connor C., Kalsheker N. Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease. In: Human Mutation, vol. 27 (1) pp. 103 - 109. InterScience, 2006.
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 two genes and evaluated these SNPs in the largest case-control genetic study of COPD conducted so far. For SERPINA1, six newly identified haplotypes with a common backbone of five SNPs were found to increase the risk of disease by six- to 50-fold, the highest risk of COPD reported to date. In contrast, no haplotype associations for SERPINA3 were identified.
Subject alpha-1-antitrypsin

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