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6 results on '"Itkonen-Vatjus R"'

4. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

Author

Asumalahti, K., Veal, C., Laitinen, T., Suomela, S., Allen, M., Elomaa, O., Moser, M., Cid, R., Ripatti, S., Vorechovsky, I., Marcusson, J. A., Nakagawa, H., Lazaro, C., Estivill, X., Capon, F., Giuseppe Novelli, Saarialho-Kere, U., Barker, J., Trembath, R., Kere, J., Burden, D. B., Tillman, D., Powis, S. H., Balendran, N., Ameen, M., Vaughan, R. W., Heath, E. K., Itkonen-Vatjus, R., Jansen, C., Karvonen, J., Karvonen, S. -L, Kivekäs, K., Reunala, T., Snellman, E., Uurasmaa, T., Toftgård, R., Murakami, T., Otsuki, M., Asahina, A., Saeki, H., Barberà, E., Ferrándiz, C., Giménez Arnau, A., Grimalt, F., Puig, S., Sánchez, A., Palacios, A., Pujol, J. A., Sánchez, M., Simal, E., Vázquez, F., and Ramírez, B.

5. Psoriasis susceptibility locus on 18p revealed by genome scan in Finnish families not associated with PSORS1.

Author

Asumalahti K, Laitinen T, Lahermo P, Suomela S, Itkonen-Vatjus R, Jansen C, Karvonen J, Karvonen SL, Reunala T, Snellman E, Uurasmaa T, Saarialho-Kere U, and Kere J

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Child, Chromosome Mapping, Family Health, Female, Finland, Genetic Predisposition to Disease, Genome, Human, Humans, Male, Middle Aged, Pedigree, Chromosomes, Human, Pair 18, Genetic Linkage, Psoriasis genetics
Abstract

The major susceptibility locus for psoriasis, PSORS1, resides on chromosome 6p and includes the candidate genes HLA-C, HCR, and CDSN. Based on a nationwide collection of psoriasis patients and genotyping for the PSORS1 susceptibility haplotype, we selected for a genome scan nine families who do not show association with PSORS1 to more easily detect minor loci for psoriasis susceptibility. In the genome scan, five loci gave initial evidence of linkage and were studied with a denser marker map. After fine mapping, only one locus on 18p11.23 showed suggestive evidence of linkage (nonparametric multipoint linkage analysis score, 3.58; p = 0.0038). The bootstrapping analysis showed that one large family contributed the majority of the linkage (p = 0.0039), but was supported by other families. Haplotype sharing between the linked families and haplotype association analysis gave additional support for the locus. Further, the 18p locus has shown nominal evidence of linkage with psoriasis in the British population. Taken together, these findings confirm the presence of a minor susceptibility locus for psoriasis on 18p11.

Published
2003
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6. A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.

Author

Asumalahti K, Laitinen T, Itkonen-Vatjus R, Lokki ML, Suomela S, Snellman E, Saarialho-Kere U, and Kere J

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Exons, Female, Glycoproteins genetics, HLA-C Antigens biosynthesis, Haplotypes, Humans, In Situ Hybridization, Intercellular Signaling Peptides and Proteins, Intracellular Signaling Peptides and Proteins, Introns, Keratinocytes metabolism, Male, Middle Aged, Models, Genetic, Molecular Sequence Data, RNA, Messenger metabolism, Skin metabolism, Alleles, Genetic Predisposition to Disease, HLA-C Antigens genetics, Polymorphism, Genetic, Proteins genetics, Psoriasis genetics
Abstract

A susceptibility gene for psoriasis, a chronic skin disorder, resides in chromosome 6p near the HLA-C locus. Sequencing of the region has allowed the identification of a new gene, HCR. We found that HCR is highly polymorphic with at least 12 coding variants. An association study of the new HCR polymorphisms and the previously suggested susceptibility alleles HLA-Cw*0602 and corneodesmosin allele 5 (CD*5) with psoriasis revealed a specific HCR variant associated with psoriasis susceptibility. However, the HLA-Cw*0602 allele was rarer in controls and associated with a stronger relative risk. Association analysis did not support CD*5 as a psoriasis susceptibility allele in our sample of patients (n = 100) and population-matched controls (n = 93) from an isolated population. We found HCR to be overexpressed in keratinocytes of psoriatic lesions compared with paired samples of healthy skin. Our results suggest a potential role for HCR in the pathogenesis of psoriasis.

Published
2000
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