title: Complement receptor 1 gene polymorphisms in sarcoidosis.
abstract: 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 (C(5507)G) 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.
authors.affiliation: Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, Pavia, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Zorzetto
authors.forename: Cristina
authors.initials: C
authors.lastname: Bombieri
authors.forename: Ilaria
authors.initials: I
authors.lastname: Ferrarotti
authors.forename: Sara
authors.initials: S
authors.lastname: Medaglia
authors.forename: Carlo
authors.initials: C
authors.lastname: Agostini
authors.forename: Carmine
authors.initials: C
authors.lastname: Tinelli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Malerba
authors.forename: Natalia
authors.initials: N
authors.lastname: Carrabino
authors.forename: Anna
authors.initials: A
authors.lastname: Beretta
authors.forename: Lucio
authors.initials: L
authors.lastname: Casali
authors.forename: Ernesto
authors.initials: E
authors.lastname: Pozzi
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Gianpietro
authors.initials: G
authors.lastname: Semenzato
authors.forename: Maria Clara
authors.initials: MC
authors.lastname: Cuccia
authors.forename: Maurizio
authors.initials: M
authors.lastname: Luisetti
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D000936:Antigen-Antibody Complex / Q000235:genetics / Q000276:immunology; D004912:Erythrocytes / Q000276:immunology; D005260:Female; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008657:Metabolic Clearance Rate; D011110:Polymorphism, Genetic; D011951:Receptors, Complement / Q000235:genetics* / Q000276:immunology; D012507:Sarcoidosis / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D012737:Sex Factors
chemical_list: D000936:Antigen-Antibody Complex; D011951:Receptors, Complement