title: Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis.
abstract: The PSORS1 locus is the consistently replicated genetic risk factor for psoriasis. Clinical associations with the main marker allele of PSORS1, HLA-Cw6, have been addressed in a number of studies, but clinical associations have not been used as a way to distinguish the effects of the neighbouring candidate genes in PSORS1. Our results show that HLA-Cw6 and CCHCR1 risk allele associations with clinical features of psoriasis are predictably highly similar in a Finnish nationwide cohort of 379 psoriasis patients. The clinical profiling of a small group of patients (n=34) who were HLA-Cw6- but CCHCR1*WWCC positive suggested that no great differences existed between them and HCR-Cw6- patients. HCR+ genotype (as well as Cw6+ genotype) correlated for the first time positively with female sex and, in contrast with previous studies, negatively with disease severity. Presence of psoriatic arthritis was more pronounced in HCR- psoriasis (as well as in Cw6- psoriasis). Clinical profiling may be a useful approach to distinguishing genetic effects of candidate genes even within a locus in sufficiently large cohorts.
authors.affiliation: Department of Dermatology, Helsinki University Central Hospital, Helshinki, Finland.
authors.forename: Sari
authors.initials: S
authors.lastname: Suomela
authors.forename: Kati
authors.initials: K
authors.lastname: Kainu
authors.forename: Päivi
authors.initials: P
authors.lastname: Onkamo
authors.forename: Inkeri
authors.initials: I
authors.lastname: Tiala
authors.forename: Johan
authors.initials: J
authors.lastname: Himberg
authors.forename: Lotta
authors.initials: L
authors.lastname: Koskinen
authors.forename: Erna
authors.initials: E
authors.lastname: Snellman
authors.forename: Seija-Liisa
authors.initials: SL
authors.lastname: Karvonen
authors.forename: Jaakko
authors.initials: J
authors.lastname: Karvonen
authors.forename: Tutta
authors.initials: T
authors.lastname: Uurasmaa
authors.forename: Timo
authors.initials: T
authors.lastname: Reunala
authors.forename: Kristiina
authors.initials: K
authors.lastname: Kivikäs
authors.forename: Christer T
authors.initials: CT
authors.lastname: Jansén
authors.forename: Päivi
authors.initials: P
authors.lastname: Holopainen
authors.forename: Outi
authors.initials: O
authors.lastname: Elomaa
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
authors.forename: Ulpu
authors.initials: U
authors.lastname: Saarialho-Kere
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015535:Arthritis, Psoriatic / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D015236:HLA-C Antigens / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D011565:Psoriasis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D012737:Sex Factors
chemical_list: C412616:CCHCR1 protein, human; D015236:HLA-C Antigens; C528994:HLA-C*06 antigen; D047908:Intracellular Signaling Peptides and Proteins