title: Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
abstract: A susceptibility locus for psoriasis, PSORS4, has been mapped to chromosome 1q21 in the region of the epidermal differentiation complex. The region has been refined to a 115 kb interval around the loricrin (LOR) gene. However, no evidence of association between polymorphisms in the LOR gene and psoriasis has been found. Therefore, we have analysed association to three candidate gene clusters of the region, the S100, small proline-rich protein (SPRR) and PGLYRP (peptidoglycan recognition protein) genes, which all contain functionally interesting psoriasis candidate genes. In previous studies, the SPRR and S100 genes have shown altered expression in psoriasis. Also polymorphisms in the PGLYRP genes have shown to be associated with psoriasis. We genotyped altogether 29 single nucleotide polymorphisms (SNPs) in 255 Finnish psoriasis families and analysed association with psoriasis using transmission disequilibrium test. A five-SNP haplotype of PGLYRP SNPs associated significantly with psoriasis. There was also suggestive evidence of association to SPRR gene locus in Finnish families. To confirm the putative associations, selected SNPs were genotyped also in a family collection of Swedish and Irish patients. The families supported association to the two gene regions, but there was also evidence of allelic heterogeneity.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
authors.forename: Kati
authors.initials: K
authors.lastname: Kainu
authors.forename: Katja
authors.initials: K
authors.lastname: Kivinen
authors.forename: Marco
authors.initials: M
authors.lastname: Zucchelli
authors.forename: Sari
authors.initials: S
authors.lastname: Suomela
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
authors.forename: Annica
authors.initials: A
authors.lastname: Inerot
authors.forename: Barbara S
authors.initials: BS
authors.lastname: Baker
authors.forename: Anne V
authors.initials: AV
authors.lastname: Powles
authors.forename: Lionel
authors.initials: L
authors.lastname: Fry
authors.forename: Lena
authors.initials: L
authors.lastname: Samuelsson
authors.forename: Ulpu
authors.initials: U
authors.lastname: Saarialho-Kere
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055233:Cornified Envelope Proline-Rich Proteins / Q000235:genetics; D005260:Female; D005387:Finland; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007494:Ireland; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011565:Psoriasis / Q000208:ethnology* / Q000235:genetics*; D013548:Sweden; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D055233:Cornified Envelope Proline-Rich Proteins; C118897:peptidoglycan recognition protein