title: The 32-base pair deletion of the chemokine receptor 5 gene (CCR5-Delta32) is not associated with primary sclerosing cholangitis in 363 Scandinavian patients.
abstract: CCR5 is a chemokine receptor expressed on T-cells and macrophages. A 32-base pair deletion in the chemokine receptor 5 gene (CCR5-Delta32) leads to a non-functional receptor. Conflicting evidence exists whether this deletion is associated with primary sclerosing cholangitis (PSC). We genotyped the CCR5-Delta32 variant in 363 PSC patients and 366 controls. No significant increase in the Delta32 allele frequency was detected in the PSC patients compared to controls (12.7% vs 10.7% OR = 1.22, 95% CI [0.88, 1.68], P = 0.23). Survival analysis did not reveal any significant effects from CCR5-Delta32 genotypes on disease progression. Thus, in this study (power > 90%, given OR = 2, alpha = 0.05), we were unable to replicate previous findings and our results do not support an involvement of CCR5-Delta32 in either PSC susceptibility or progression.
authors.affiliation: Institute of Immunology, Rikshospitalet University Hospital, Sognsvannsyn 20, 0027 Oslo, Norway.
authors.forename: E
authors.initials: E
authors.lastname: Melum
authors.forename: T H
authors.initials: TH
authors.lastname: Karlsen
authors.forename: U
authors.initials: U
authors.lastname: Broomé
authors.forename: E
authors.initials: E
authors.lastname: Thorsby
authors.forename: E
authors.initials: E
authors.lastname: Schrumpf
authors.forename: K M
authors.initials: KM
authors.lastname: Boberg
authors.forename: B A
authors.initials: BA
authors.lastname: Lie
mesh_terms: D000483:Alleles; D020029:Base Pairing; D016022:Case-Control Studies; D015209:Cholangitis, Sclerosing / Q000209:etiology*; D016001:Confidence Intervals; D018450:Disease Progression; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016017:Odds Ratio; D019713:Receptors, CCR5 / Q000235:genetics*; D012537:Scandinavian and Nordic Countries / Q000453:epidemiology
chemical_list: D019713:Receptors, CCR5