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| Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus |
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| Author(s): Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O, Moser M, de Cid R, Ripatti S, Vorechovsky I, Marcusson JA, Nakagawa H, Lazaro C, Estivill X, Capon F, Novelli G, Saarialho-Kere U, Barker J, Trembath R, Kere J |
| Source: HUMAN MOLECULAR GENETICS Volume: 11 Issue: 5 Pages: 589-597 Published: MAR 1 2002 |
| Times Cited: 62 References: 27 |
| Abstract: PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families from six populations revealed that coding single-nucleotide polymorphisms of HCR formed a conserved allele HCR*WWCC that associated highly significantly with psoriasis and with the HLA-Cw6 allele in all populations. Because of strong linkage disequilibrium between HLA-Cw6 and HCR*WWCC, the two genes could not be genetically distinguished by this sample size. However, the variant HCR allele was predicted to differ in secondary structure from the wild-type protein. HCR protein expression in lesional psoriatic skin differed considerably from that observed in normal skin. These results provide strong evidence for the HCR*WWCC allele as a major genetic determinant for psoriasis, probably by a mechanism impacting on keratinocyte proliferation. |
| Document Type: Article |
| Language: English |
| Reprint Address: Kere, J (reprint author), Karolinska Inst, Novum, Dept Biosci, Ctr Nutr & Toxicol, S-14157 Huddinge, Sweden |
Addresses:
1. Karolinska Inst, Novum, Dept Biosci, Ctr Nutr & Toxicol, S-14157 Huddinge, Sweden
2. Univ Helsinki, Dept Med Genet, Helsinki 00014, Finland
3. Univ Helsinki, Dept Dermatol, FIN-00014 Helsinki, Finland
4. Univ Helsinki, Finnish Genome Ctr, FIN-00014 Helsinki, Finland
5. Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics England
6. Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics England
7. Kings Coll London, St Johns Inst Dermatol, London SE1 7EH, England
8. Inst Recerca Oncol, Med & Mol Genet Ctr, Barcelona 08907, Spain
9. Karolinska Inst, Clin Res Ctr, S-14157 Huddinge, Sweden
10. Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, Sez Genet, Rome, Italy |
| Publisher: OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: 529BZ |
| ISSN: 0964-6906 |
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