Literature DB >> 11062479

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

A G Gharavi1, Y Yan, F Scolari, F P Schena, G M Frasca, G M Ghiggeri, K Cooper, A Amoroso, B F Viola, G Battini, G Caridi, C Canova, A Farhi, V Subramanian, C Nelson-Williams, S Woodford, B A Julian, R J Wyatt, R P Lifton.   

Abstract

End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide; it affects up to 1.3% of the population and its pathogenesis is unknown. Kidneys of people with IgAN show deposits of IgA-containing immune complexes with proliferation of the glomerular mesangium (Fig. 1). Typical clinical features include onset before age 40 with haematuria and proteinuria (blood and protein in the urine), and episodes of gross haematuria following mucosal infections are common; 30% of patients develop progressive renal failure. Although not generally considered a hereditary disease, striking ethnic variation in prevalence and familial clustering, along with subclinical renal abnormalities among relatives of IgAN cases, have suggested a heretofore undefined genetic component. By genome-wide analysis of linkage in 30 multiplex IgAN kindreds, we demonstrate linkage of IgAN to 6q22-23 under a dominant model of transmission with incomplete penetrance, with a lod score of 5.6 and 60% of kindreds linked. These findings for the first time indicate the existence of a locus with large effect on development of IgAN and identify the chromosomal location of this disease gene.

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Year:  2000        PMID: 11062479     DOI: 10.1038/81677

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


  85 in total

Review 1.  Progress in molecular and genetic studies of IgA nephropathy.

Authors:  J Novak; B A Julian; M Tomana; J Mesteck
Journal:  J Clin Immunol       Date:  2001-09       Impact factor: 8.317

2.  For further investigations in IgA nephropathy the approach from phenotype to genotype is welcome.

Authors:  F P Schena
Journal:  Clin Exp Immunol       Date:  2002-03       Impact factor: 4.330

3.  Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus.

Authors:  Arya Mani; Seyed-Mahmoud Meraji; Roozbeh Houshyar; Jayaram Radhakrishnan; Alaleh Mani; Mehrabeh Ahangar; Tayebeh M Rezaie; Mohammad-Ali Taghavinejad; Behrooz Broumand; Hongyu Zhao; Carol Nelson-Williams; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-30       Impact factor: 11.205

4.  A panoramic view of gene expression in the human kidney.

Authors:  Danielle Chabardès-Garonne; Arnaud Mejéan; Jean-Christophe Aude; Lydie Cheval; Antonio Di Stefano; Marie-Claude Gaillard; Martine Imbert-Teboul; Monika Wittner; Chanth Balian; Véronique Anthouard; Catherine Robert; Beatrice Ségurens; Patrick Wincker; Jean Weissenbach; Alain Doucet; Jean-Marc Elalouf
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-31       Impact factor: 11.205

Review 5.  Glomerular diseases: genetic causes and future therapeutics.

Authors:  Chih-Kang Chiang; Reiko Inagi
Journal:  Nat Rev Nephrol       Date:  2010-07-20       Impact factor: 28.314

6.  Polymorphisms of the IL23R gene are associated with psoriasis but not with immunoglobulin A nephropathy in a Hungarian population.

Authors:  Eniko Safrany; Marta Szell; Veronika Csongei; Luca Jaromi; Csilla Sipeky; Titanilla Szabo; Lajos Kemeny; Judit Nagy; Bela Melegh
Journal:  Inflammation       Date:  2011-12       Impact factor: 4.092

7.  Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy.

Authors:  Ali G Gharavi; Zina Moldoveanu; Robert J Wyatt; Catherine V Barker; Susan Y Woodford; Richard P Lifton; Jiri Mestecky; Jan Novak; Bruce A Julian
Journal:  J Am Soc Nephrol       Date:  2008-02-13       Impact factor: 10.121

8.  Glomerular disease: the Oxford classification--predicting progression of IgAN.

Authors:  Frank Eitner; Jürgen Floege
Journal:  Nat Rev Nephrol       Date:  2009-10       Impact factor: 28.314

9.  A polymorphism of interleukin-22 receptor alpha-1 is associated with the development of childhood IgA nephropathy.

Authors:  Jin-Soon Suh; Seong H Cho; Joo-Ho Chung; Ahrim Moon; Yong-Koo Park; Byoung-Soo Cho
Journal:  J Interferon Cytokine Res       Date:  2013-05-09       Impact factor: 2.607

10.  Application of Proteomic Analysis to Renal Disease in the Clinic.

Authors:  Bruce A Julian; Hitoshi Suzuki; Goce Spasovski; Yusuke Suzuki; Yasuhiko Tomino; Jan Novak
Journal:  Proteomics Clin Appl       Date:  2009-01-01       Impact factor: 3.494

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