Literature DB >> 16580613

Genetic factors associated with gout and hyperuricemia.

Anthony J Bleyer1, Thomas C Hart.   

Abstract

Hyperuricemia and gout are common conditions that have long been known to have a heritable component. Obesity, diabetes, and chronic kidney failure are conditions with multifactorial inheritance that are associated with gout. In addition, social factors such as protein and alcohol intake affect serum uric acid levels. The current review discusses basic uric acid metabolism and the multigenetic inheritance of hyperuricemia. Several monogenic disorders affecting uric acid metabolism are reviewed. The genetics, pathophysiology, diagnosis, and treatment of familial juvenile hyperuricemic nephropathy/medullary cystic kidney disease, autosomal dominant disorders associated with hyperuricemia and progressive kidney failure, are described.

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Year:  2006        PMID: 16580613     DOI: 10.1053/j.ackd.2006.01.008

Source DB:  PubMed          Journal:  Adv Chronic Kidney Dis        ISSN: 1548-5595            Impact factor:   3.620


  6 in total

1.  Expert consensus for the diagnosis and treatment of patient with hyperuricemia and high cardiovascular risk: 2021 update.

Authors:  Claudio Borghi; Justyna Domienik-Karłowicz; Andrzej Tykarski; Krystyna Widecka; Krzysztof J Filipiak; Miłosz J Jaguszewski; Krzysztof Narkiewicz; Giuseppe Mancia
Journal:  Cardiol J       Date:  2021-01-13       Impact factor: 2.737

2.  Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones.

Authors:  Lijie Ma; Yan Liu; Tarek M El-Achkar; Xue-Ru Wu
Journal:  J Biol Chem       Date:  2011-11-22       Impact factor: 5.157

3.  Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Authors:  Adrienne Tin; Yong Li; Jennifer A Brody; Teresa Nutile; Audrey Y Chu; Jennifer E Huffman; Qiong Yang; Ming-Huei Chen; Cassianne Robinson-Cohen; Aurélien Macé; Jun Liu; Ayşe Demirkan; Rossella Sorice; Sanaz Sedaghat; Melody Swen; Bing Yu; Sahar Ghasemi; Alexanda Teumer; Peter Vollenweider; Marina Ciullo; Meng Li; André G Uitterlinden; Robert Kraaij; Najaf Amin; Jeroen van Rooij; Zoltán Kutalik; Abbas Dehghan; Barbara McKnight; Cornelia M van Duijn; Alanna Morrison; Bruce M Psaty; Eric Boerwinkle; Caroline S Fox; Owen M Woodward; Anna Köttgen
Journal:  Nat Commun       Date:  2018-10-12       Impact factor: 14.919

4.  Knowledge and practice in the management of asymptomatic hyperuricemia among primary health care physicians in Jeddah, Western Region of Saudi Arabia.

Authors:  Norah A Alqarni; Abdul H Hassan
Journal:  Saudi Med J       Date:  2018-12       Impact factor: 1.484

5.  Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.

Authors:  Hirotaka Matsuo; Kimiyoshi Ichida; Tappei Takada; Akiyoshi Nakayama; Hiroshi Nakashima; Takahiro Nakamura; Yusuke Kawamura; Yuzo Takada; Ken Yamamoto; Hiroki Inoue; Yuji Oikawa; Mariko Naito; Asahi Hishida; Kenji Wakai; Chisa Okada; Seiko Shimizu; Masayuki Sakiyama; Toshinori Chiba; Hiraku Ogata; Kazuki Niwa; Makoto Hosoyamada; Atsuyoshi Mori; Nobuyuki Hamajima; Hiroshi Suzuki; Yoshikatsu Kanai; Yutaka Sakurai; Tatsuo Hosoya; Toru Shimizu; Nariyoshi Shinomiya
Journal:  Sci Rep       Date:  2013       Impact factor: 4.379

6.  Genetic analysis for rs2280205 (A>G) and rs2276961 (T>C) in SLC2A9 polymorphism for the susceptibility of gout in Cameroonians: a pilot study.

Authors:  Jan René Nkeck; Madeleine Singwé Ngandeu; Vicky Ama Moor; Jériel Pascal Nkeck; Jean-Pierre Chedjou; Aude Laetitia Ndoadoumgue; Wilfred F Mbacham
Journal:  BMC Res Notes       Date:  2018-04-03
  6 in total

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