title: Complement receptor 1 gene polymorphisms are associated with idiopathic pulmonary fibrosis.
abstract: Idiopathic pulmonary fibrosis (IPF) is a chronic, fibrotic disorder underlain by aberrant wound healing of repeated lung injury. Environmental triggers and genetic background are likely to act as modifiers of the fibrotic response. Erythrocyte complement receptor 1 is a membrane protein mediating the transport of immune complexes to phagocytes. Three gene polymorphisms are related to the erythrocyte surface density of complement receptor 1 molecules, which in turn are related to the rate of immune complexes' clearance. There is evidence of association between sarcoidosis and the complement receptor 1 gene. We wondered whether IPF is associated with the complement receptor 1 gene alleles coding for a reduced molecule/erythrocyte ratio. We studied 74 patients and 166 control subjects. Three polymorphic sites of the gene, A3650G exon 22, HindIII RFLP intron 27, and C5507G exon 33, were analyzed and found to be in linkage disequilibrium. The GG genotype for the C5507G exon 33 polymorphism was significantly more common in patients with IPF than in control subjects (odds ratio = 6.232, 95% confidence interval = 2.198-18.419, p = 0.00023). The significant difference was found in both sexes. These findings agree with speculations on the role of the complement receptor 1 gene in idiopathic pulmonary fibrosis.
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: Ilaria
authors.initials: I
authors.lastname: Ferrarotti
authors.forename: Rocco
authors.initials: R
authors.lastname: Trisolini
authors.forename: Luigi
authors.initials: L
authors.lastname: Lazzari Agli
authors.forename: Roberta
authors.initials: R
authors.lastname: Scabini
authors.forename: Monique
authors.initials: M
authors.lastname: Novo
authors.forename: Annalisa
authors.initials: A
authors.lastname: De Silvestri
authors.forename: Marco
authors.initials: M
authors.lastname: Patelli
authors.forename: Miryam
authors.initials: M
authors.lastname: Martinetti
authors.forename: MariaClara
authors.initials: M
authors.lastname: Cuccia
authors.forename: Venerino
authors.initials: V
authors.lastname: Poletti
authors.forename: Ernesto
authors.initials: E
authors.lastname: Pozzi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Luisetti
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011658:Pulmonary Fibrosis / Q000235:genetics*; D011951:Receptors, Complement / Q000235:genetics*; D012129:Respiratory Function Tests; D012720:Severity of Illness Index
chemical_list: D011951:Receptors, Complement