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Literature DB >> 18059266

Psoriasis is associated with increased beta-defensin genomic copy number.

Edward J Hollox¹, Ulrike Huffmeier, Patrick L J M Zeeuwen, Raquel Palla, Jesús Lascorz, Diana Rodijk-Olthuis, Peter C M van de Kerkhof, Heiko Traupe, Gys de Jongh, Martin den Heijer, André Reis, John A L Armour, Joost Schalkwijk.

Abstract

Psoriasis is a common inflammatory skin disease with a strong genetic component. We analyzed the genomic copy number polymorphism of the beta-defensin region on human chromosome 8 in 179 Dutch individuals with psoriasis and 272 controls and in 319 German individuals with psoriasis and 305 controls. Comparisons in both cohorts showed a significant association between higher genomic copy number for beta-defensin genes and risk of psoriasis.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2007 PMID： 18059266 PMCID： PMC2447885 DOI： 10.1038/ng.2007.48

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

15 in total

1. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

Authors: E J Hollox; J A L Armour; J C K Barber
Journal: Am J Hum Genet Date: 2003-08-12 Impact factor: 11.025

2. Population structure, differential bias and genomic control in a large-scale, case-control association study.

Authors: David G Clayton; Neil M Walker; Deborah J Smyth; Rebecca Pask; Jason D Cooper; Lisa M Maier; Luc J Smink; Alex C Lam; Nigel R Ovington; Helen E Stevens; Sarah Nutland; Joanna M M Howson; Malek Faham; Martin Moorhead; Hywel B Jones; Matthew Falkowski; Paul Hardenbol; Thomas D Willis; John A Todd
Journal: Nat Genet Date: 2005-10-09 Impact factor: 38.330

Review 3. Defensins: antimicrobial peptides of innate immunity.

Authors: Tomas Ganz
Journal: Nat Rev Immunol Date: 2003-09 Impact factor: 53.106

Review 4. Getting under the skin: the immunogenetics of psoriasis.

Authors: Anne M Bowcock; James G Krueger
Journal: Nat Rev Immunol Date: 2005-09 Impact factor: 53.106

5. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.

Authors: Klaus Fellermann; Daniel E Stange; Elke Schaeffeler; Hartmut Schmalzl; Jan Wehkamp; Charles L Bevins; Walter Reinisch; Alexander Teml; Matthias Schwab; Peter Lichter; Bernhard Radlwimmer; Eduard F Stange
Journal: Am J Hum Genet Date: 2006-07-12 Impact factor: 11.025

6. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.

Authors: Patricia M R Aldred; Edward J Hollox; John A L Armour
Journal: Hum Mol Genet Date: 2005-06-08 Impact factor: 6.150

7. The human beta-defensins (-1, -2, -3, -4) and cathelicidin LL-37 induce IL-18 secretion through p38 and ERK MAPK activation in primary human keratinocytes.

Authors: François Niyonsaba; Hiroko Ushio; Isao Nagaoka; Ko Okumura; Hideoki Ogawa
Journal: J Immunol Date: 2005-08-01 Impact factor: 5.422

8. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

Authors: Yan Yang; Erwin K Chung; Yee Ling Wu; Stephanie L Savelli; Haikady N Nagaraja; Bi Zhou; Maddie Hebert; Karla N Jones; Yaoling Shu; Kathryn Kitzmiller; Carol A Blanchong; Kim L McBride; Gloria C Higgins; Robert M Rennebohm; Robert R Rice; Kevin V Hackshaw; Robert A S Roubey; Jennifer M Grossman; Betty P Tsao; Daniel J Birmingham; Brad H Rovin; Lee A Hebert; C Yung Yu
Journal: Am J Hum Genet Date: 2007-04-26 Impact factor: 11.025

9. Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.

Authors: Edward J Hollox; Jane Davies; Uta Griesenbach; Juliana Burgess; Eric W F W Alton; John A L Armour
Journal: J Negat Results Biomed Date: 2005-12-07

10. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

Authors: John A L Armour; Raquel Palla; Patrick L J M Zeeuwen; Martin den Heijer; Joost Schalkwijk; Edward J Hollox
Journal: Nucleic Acids Res Date: 2006-12-14 Impact factor: 16.971

272 in total

1. [Genetics of common chronic inflammatory skin diseases : An update on atopic dermatitis and psoriasis].

Authors: E Rodríguez; K Eyerich; S Weidinger
Journal: Hautarzt Date: 2011-02 Impact factor: 0.751

Review 2. The genetics of psoriasis and psoriatic arthritis.

Authors: Vinod Chandran
Journal: Clin Rev Allergy Immunol Date: 2013-04 Impact factor: 8.667

3. Clan genomics and the complex architecture of human disease.

Authors: James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal: Cell Date: 2011-09-30 Impact factor: 41.582

4. Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

Authors: Marian C Aldhous; Suhaili Abu Bakar; Natalie J Prescott; Raquel Palla; Kimberley Soo; John C Mansfield; Christopher G Mathew; Jack Satsangi; John A L Armour
Journal: Hum Mol Genet Date: 2010-09-21 Impact factor: 6.150