On the Wegener granulomatosis associated region on chromosome 6p21.3

BMC Medical Genetics
Paweł SzyldJoerg T Epplen

Abstract

Wegener granulomatosis (WG) belongs to the heterogeneous group of systemic vasculitides. The multifactorial pathophysiology of WG is supposedly caused by yet unknown environmental influence(s) on the basis of genetic predisposition. The presence of anti-neutrophil cytoplasmic antibodies (ANCA) in the plasma of patients and genetic involvement of the human leukocyte antigen system reflect an autoimmune background of the disease. Strong associations were revealed with WG by markers located in the major histocompatibility complex class II (MHC II) region in the vicinity of human leukocyte antigen (HLA)-DPB1 and the retinoid X receptor B (RXRB) loci. In order to define the involvement of the 6p21.3 region in WG in more detail this previous population-based association study was expanded here to the respective 3.6 megabase encompassing this region on chromosome 6. The RXRB gene was analysed as well as a splice-site variation of the butyrophilin-like (BTNL2) gene which is also located within the respective region. The latter polymorphism has been evaluated here as it appears as a HLA independent susceptibility factor in another granulomatous disorder, sarcoidosis. 150-180 German WG patients and a corresponding cohort of healthy contr...Continue Reading

References

Oct 1, 1979·Clinical Immunology and Immunopathology·P KatzA S Fauci
Feb 1, 1992·Annals of the Rheumatic Diseases·S S PapihaM Venning
Jan 1, 1990·The Journal of Experimental Medicine·J LüdemannW L Gross
Nov 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·C V JongeneelA Cambon-Thomsen
Sep 1, 1995·Kidney International·E C HagenM R Daha
Aug 1, 1995·Baillière's Clinical Rheumatology·R A Watts, D G Scott
Apr 15, 1995·Annals of Internal Medicine·M F CotchG S Hoffman
Feb 1, 1994·Arthritis and Rheumatism·J C JennetteC G Kallenberg
Jun 1, 1993·Kidney International·V L EsnaultP Lesavre
Apr 1, 1993·Journal of Autoimmunity·C O Savage, S P Cooke
Dec 15, 2000·Kidney International·M GencikH Fricke
Jul 27, 2001·Best Practice & Research. Clinical Rheumatology·D HuangG S Hoffman
Jun 28, 2002·Cleveland Clinic Journal of Medicine·Ulrich Specks
Aug 22, 2002·International Immunopharmacology·Luciano Adorini
Dec 24, 2002·Current Opinion in Rheumatology·Richard A Watts, David G I Scott
Jan 10, 2003·Nucleic Acids Research·D KarolchikUNKNOWN University of California Santa Cruz
May 2, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Stefan BorgmannHarald Fricke
Jul 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·John D Storey, Robert Tibshirani
Jul 1, 2004·The Journal of Steroid Biochemistry and Molecular Biology·Luciano AdoriniMilan Uskokovic
Aug 17, 2004·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Stefan WieczorekJoerg T Epplen
Mar 1, 2005·Nature Genetics·Ruta ValentonyteStefan Schreiber
Dec 2, 2005·Arthritis and Rheumatism·Peter JagielloJoerg T Epplen
Dec 23, 2009·Current Drug Discovery Technologies·Peter LamprechtWolfgang L Gross
Dec 25, 2009·Circulation. Cardiovascular Genetics·Tianyuan Wang, Terrence S Furey
Jan 1, 2008·CSH Protocols·Albert Vernon Smith

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Citations

Jun 2, 2009·Clinical Immunology : the Official Journal of the Clinical Immunology Society·James M KelleyRobert P Kimberly
Dec 15, 2010·Nature Reviews. Cancer·Martijn C NawijnAnton Berns
Jan 4, 2008·Clinical Reviews in Allergy & Immunology·Y Renaudineau, Y Le Meur
Feb 19, 2009·PPAR Research·Stefan WieczorekJörg T Epplen
May 16, 2014·Current Rheumatology Reports·Manuel F Ugarte-Gil, Luis R Espinoza
Jun 16, 2011·Molecular Ecology·M-H Li, J Merilä
Oct 30, 2009·Current Opinion in Rheumatology·Stefan WieczorekJörg T Epplen
Sep 29, 2006·Journal of the American Society of Nephrology : JASN·Sibylle von VietinghoffRalph Kettritz
Jul 1, 2008·Expert Review of Clinical Immunology·R MannaG Paludetti
Apr 13, 2021·Frontiers in Immunology·Weiran LiYujun Sheng
Oct 13, 2021·Rheumatology International·Pratibha BanerjeeSabyasachi Senapati

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

Genepop
Primer Express
QValue
ABI Genotyper
Fragment Analysis Module

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