Researchers at the University of Pittsburgh have shown adaptive immune processes are active among afflicted patients, including reactivity against self-antigens (i.e., autoimmunity). Adaptive immune responses, and autoimmune processes in particular, are under the influence of genetic elements. Numerous genes of the major histocompatibility complex (MHC) on chromosome 6p21.31 are known to be immunomodulatory. The most widely recognized genes within this region are human leukocyte antigens (HLA).

Investigators have compared HLA alleles of end-stage COPD patients to a control cohort of subjects with extensive smoking histories but normal spirometry, and found a particular HLA allele is strongly associated with this disease. It also appears this allele is a component of a disease-associated haplotype that likely includes other indentified alleles. Some specific HLA alleles also associate with symptoms and manifestations of subjects. In contrast, expressions of certain other alleles appear to be protective for COPD. These data shown that one or more genes within or in proximity to this distinct HLA region(s) are important determinants of COPD susceptibility.

Background

Chronic obstructive pulmonary disease (COPD) is a leading cause of death in the U.S., and a major world-wide health problem. The predominant risk factor for COPD is tobacco smoking. Nonetheless, genetic factors are undoubtedly important, since only a fraction of smokers develop clinically significant COPD, and familial clustering of cases is evident.

Stage of Development

• In-vivo data available

PCT patent application filed

File Number: 1973 

Disease: Respiratory and Pulmonary System