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Literature DB >> 27188840

Challenges in Rare Variant Association Studies for Complex Kidney Traits: CFHR5 and IgA Nephropathy.

Krzysztof Kiryluk¹.

Abstract

Entities: Disease Gene

Keywords: CFHR5; GWAS; Genetic association; IgA nephropathy; Rare variants; Sequencing

Mesh：

Year: 2016 PMID： 27188840 PMCID： PMC5004670 DOI： 10.1681/ASN.2016040383

Source DB: PubMed Journal: J Am Soc Nephrol ISSN： 1046-6673 Impact factor: 10.121

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24 in total

1. Complement factor H polymorphism in age-related macular degeneration.

Authors: Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal: Science Date: 2005-03-10 Impact factor: 47.728

Review 2. Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies.

Authors: Krzysztof Kiryluk; Jan Novak; Ali G Gharavi
Journal: Annu Rev Med Date: 2012-10-16 Impact factor: 13.739

3. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

Authors: Horia C Stanescu; Mauricio Arcos-Burgos; Alan Medlar; Detlef Bockenhauer; Anna Kottgen; Liviu Dragomirescu; Catalin Voinescu; Naina Patel; Kerra Pearce; Mike Hubank; Henry A F Stephens; Valerie Laundy; Sandosh Padmanabhan; Anna Zawadzka; Julia M Hofstra; Marieke J H Coenen; Martin den Heijer; Lambertus A L M Kiemeney; Delphine Bacq-Daian; Benedicte Stengel; Stephen H Powis; Paul Brenchley; John Feehally; Andrew J Rees; Hanna Debiec; Jack F M Wetzels; Pierre Ronco; Peter W Mathieson; Robert Kleta
Journal: N Engl J Med Date: 2011-02-17 Impact factor: 91.245

4. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Authors: Daniel P Gale; Elena Goicoechea de Jorge; H Terence Cook; Rubén Martinez-Barricarte; Andreas Hadjisavvas; Adam G McLean; Charles D Pusey; Alkis Pierides; Kyriacos Kyriacou; Yiannis Athanasiou; Konstantinos Voskarides; Constantinos Deltas; Andrew Palmer; Véronique Frémeaux-Bacchi; Santiago Rodriguez de Cordoba; Patrick H Maxwell; Matthew C Pickering
Journal: Lancet Date: 2010-08-25 Impact factor: 79.321

5. Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.

Authors: Ya-Ling Zhai; Si-Jun Meng; Li Zhu; Su-Fang Shi; Su-Xia Wang; Li-Jun Liu; Ji-Cheng Lv; Feng Yu; Ming-Hui Zhao; Hong Zhang
Journal: J Am Soc Nephrol Date: 2016-01-29 Impact factor: 10.121

6. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Authors: Soumya Raychaudhuri; Oleg Iartchouk; Kimberly Chin; Perciliz L Tan; Albert K Tai; Stephan Ripke; Sivakumar Gowrisankar; Soumya Vemuri; Kate Montgomery; Yi Yu; Robyn Reynolds; Donald J Zack; Betsy Campochiaro; Peter Campochiaro; Nicholas Katsanis; Mark J Daly; Johanna M Seddon
Journal: Nat Genet Date: 2011-10-23 Impact factor: 38.330

7. Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.

Authors: Krzysztof Kiryluk; Yifu Li; Simone Sanna-Cherchi; Mersedeh Rohanizadegan; Hitoshi Suzuki; Frank Eitner; Holly J Snyder; Murim Choi; Ping Hou; Francesco Scolari; Claudia Izzi; Maddalena Gigante; Loreto Gesualdo; Silvana Savoldi; Antonio Amoroso; Daniele Cusi; Pasquale Zamboli; Bruce A Julian; Jan Novak; Robert J Wyatt; Krzysztof Mucha; Markus Perola; Kati Kristiansson; Alexander Viktorin; Patrik K Magnusson; Gudmar Thorleifsson; Unnur Thorsteinsdottir; Kari Stefansson; Anne Boland; Marie Metzger; Lise Thibaudin; Christoph Wanner; Kitty J Jager; Shin Goto; Dita Maixnerova; Hussein H Karnib; Judit Nagy; Ulf Panzer; Jingyuan Xie; Nan Chen; Vladimir Tesar; Ichiei Narita; Francois Berthoux; Jürgen Floege; Benedicte Stengel; Hong Zhang; Richard P Lifton; Ali G Gharavi
Journal: PLoS Genet Date: 2012-06-21 Impact factor: 5.917

Challenges in Rare Variant Association Studies for Complex Kidney Traits: CFHR5 and IgA Nephropathy.

1. Complement factor H polymorphism in age-related macular degeneration.

Review 2. Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies.

3. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

4. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

5. Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.

6. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

7. Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.

Review 8. New developments in the genetics, pathogenesis, and therapy of IgA nephropathy.

9. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

10. Estimation of significance thresholds for genomewide association scans.

Review 1. Dominant C3 glomerulopathy: new roles for an old actor in renal pathology.

Review 2. Genetic modifiers and non-Mendelian aspects of CMT.

Review 3. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.