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Am. J. Respir. Cell Mol. Biol., Volume 27, Number 1, July, 2002 17-23

Complement Receptor 1 Gene Polymorphisms in Sarcoidosis

Michele Zorzetto, Cristina Bombieri, Ilaria Ferrarotti, Sara Medaglia, Carlo Agostini, Carmine Tinelli, Giovanni Malerba, Natalia Carrabino, Anna Beretta, Lucio Casali, Ernesto Pozzi, Pier Franco Pignatti, Gianpietro Semenzato, Maria Clara Cuccia, and Maurizio Luisetti

Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, and Servizio di Biometria ed Epidemiologia Clinica IRCCS Policlinico San Matteo, Pavia; Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia; Immunologia Clinica, Dipartimento di Medicina Clinica e Sperimentale, Università di Padova, Padova; Cattedra di Malattie dell'Apparato Respiratorio, Università di Perugia; and Sezione di Biologia e Genetica, Dipartimento Materno Infantile e di Biologia-Genetica, Università di Verona, Verona, Italy

Sarcoidosis is likely to result from exposure of genetically susceptible hosts to environmental agents. Erythrocyte (E) complement receptor 1 (CR1) is a membrane protein mediating the transport of immune complexes (ICs) to phagocytes, and at least three polymorphisms on the CR1 gene are related to erythrocyte surface density of CR1 molecules, in turn related to the rate of IC clearance from circulation. We hypothesized that sarcoidosis could be associated with increased frequency of the CR1 gene alleles coding for reduced CR1/E ratio. We studied 91 sarcoid patients and two control groups: 94 healthy volunteers and 71 patients with chronic obstructive pulmonary disease (COPD). Three polymorphic sites of CR1 gene, His1208Arg, intron 27 HindIII/RFLP, and Pro1827Arg, were analyzed. The three polymorphisms were in linkage disequilibrium. The GG genotype for the Pro1827Arg (C5507G) polymorphism was significantly associated with sarcoidosis in comparison to both control groups (odds ratio [OR] = 3.13; 95% confidence interval [CI] 1.49-6.69 versus healthy control subjects, and OR= 2.82, 95% CI 1.27-6.39 versus COPD control subjects). The same genotype was particularly associated to disease in females (OR = 7.05; 95% CI 3.10-16.61 versus healthy control subjects). These findings agree with speculations on the role of CR1 gene as a possible susceptibility factor.

Abbreviations: base pairs, bp; cystic fibrosis transmembrane (conductance) regulator, CFTR; chronic obstructive pulmonary disease, COPD; complement receptor 1, CR1; erythrocyte, E; immune complexes, ICs; long homologous repeat, LHR; major histocompatibility complex, MHC; nucleotide, nt; polymerase chain reaction, PCR; restriction fragment length polymorphism, RFLP; short consensus repeat, SCR.




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