Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map - PubMed (original) (raw)

doi: 10.1006/geno.2002.6720.

Lena Samuelsson, Joanne Polding, Fredrik Enlund, Devi Smart, Kathryn Cantone, Chee Gee See, Sapna Chadha, Annica Inerot, Charlotta Enerback, Doug Montgomery, Chris Christodolou, Phil Robinson, Paul Matthews, Mary Plumpton, Jan Wahlstrom, Gunnar Swanbeck, Tommy Martinsson, Allen Roses, John Riley, Ian Purvis

Affiliations

• PMID: 11863360
• DOI: 10.1006/geno.2002.6720

Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map

Duncan Hewett et al. Genomics. 2002 Mar.

Abstract

Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We genotyped 644 individuals, from 195 Swedish psoriatic families, for 19 polymorphisms. Linkage disequilibrium (LD) between marker and disease was assessed using the transmission/disequilibrium test (TDT). In the TDT analysis, alleles of three of these SNPs showed significant association with disease (P<0.05). A 160-kb interval encompassing these three SNPs was sequenced, and a coding sequence consisting of 13 exons was identified. The predicted protein shares 30-40% homology with the family of cation/chloride cotransporters. A five-marker haplotype spanning the 3' half of this gene is associated with psoriasis to a P value of 3.8<10(-5). We have called this gene SLC12A8, coding for a member of the solute carrier family 12 proteins. It belongs to a class of genes that were previously unrecognized as playing a role in psoriasis pathogenesis.

PubMed Disclaimer

Similar articles

• Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.
  Hüffmeier U, Lascorz J, Traupe H, Böhm B, Schürmeier-Horst F, Ständer M, Kelsch R, Baumann C, Küster W, Burkhardt H, Reis A. Hüffmeier U, et al. J Invest Dermatol. 2005 Nov;125(5):906-12. doi: 10.1111/j.0022-202X.2005.23847.x. J Invest Dermatol. 2005. PMID: 16297188
• Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.
  Enlund F, Samuelsson L, Enerbäck C, Inerot A, Wahlström J, Yhr M, Torinsson A, Riley J, Swanbeck G, Martinsson T. Enlund F, et al. Eur J Hum Genet. 1999 Oct-Nov;7(7):783-90. doi: 10.1038/sj.ejhg.5200365. Eur J Hum Genet. 1999. PMID: 10573011
• A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.
  Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM. Helms C, et al. Nat Genet. 2003 Dec;35(4):349-56. doi: 10.1038/ng1268. Epub 2003 Nov 9. Nat Genet. 2003. PMID: 14608357
• Advances in the search for psoriasis susceptibility genes.
  Capon F, Dallapiccola B, Novelli G. Capon F, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):250-5. doi: 10.1006/mgme.2000.3031. Mol Genet Metab. 2000. PMID: 11001818 Review.
• [The identification of susceptibility gene for common type 2 diabetes by high-density SNPs mapping].
  Horikawa Y. Horikawa Y. Tanpakushitsu Kakusan Koso. 2001 Dec;46(16 Suppl):2619-24. Tanpakushitsu Kakusan Koso. 2001. PMID: 11802440 Review. Japanese. No abstract available.

Cited by

• Influence of Genetic Polymorphisms on Response to Biologics in Moderate-to-Severe Psoriasis.
  Membrive Jiménez C, Pérez Ramírez C, Sánchez Martín A, Vieira Maroun S, Arias Santiago SA, Ramírez Tortosa MDC, Jiménez Morales A. Membrive Jiménez C, et al. J Pers Med. 2021 Apr 12;11(4):293. doi: 10.3390/jpm11040293. J Pers Med. 2021. PMID: 33921427 Free PMC article. Review.
• The future of genetic testing for drug response.
  Morris-Rosendahl DJ, Fiebich BL. Morris-Rosendahl DJ, et al. Dialogues Clin Neurosci. 2004 Mar;6(1):27-37. Dialogues Clin Neurosci. 2004. PMID: 22034216 Free PMC article.
• Role of the Cation-Chloride-Cotransporters in Cardiovascular Disease.
  Meor Azlan NF, Zhang J. Meor Azlan NF, et al. Cells. 2020 Oct 14;9(10):2293. doi: 10.3390/cells9102293. Cells. 2020. PMID: 33066544 Free PMC article. Review.
• Identification and characterization of novel variants of the thioredoxin reductase 3 new transcript 1 TXNRD3NT1.
  Matsuzaka Y, Okamoto K, Mabuchi T, Iizuka M, Ozawa A, Oka A, Tamiya G, Kulski JK, Inoko H. Matsuzaka Y, et al. Mamm Genome. 2005 Jan;16(1):41-9. doi: 10.1007/s00335-004-2416-y. Mamm Genome. 2005. PMID: 15674732
• Various pharmacogenetic aspects of antiepileptic drug therapy: a review.
  Mann MW, Pons G. Mann MW, et al. CNS Drugs. 2007;21(2):143-64. doi: 10.2165/00023210-200721020-00005. CNS Drugs. 2007. PMID: 17284096 Review.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Elsevier Science

• Other Literature Sources

  • H1 Connect
  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information

• Molecular Biology Databases

  • GlyGen glycoinformatics resource

• Research Materials

  • NCI CPTC Antibody Characterization Program