Literature DB >> 20347648

Translating associations between common kidney diseases and genetic variation into the clinic.

Paul E Drawz1, John R Sedor.   

Abstract

Studies of the genetics of common diseases have revealed multiple risk alleles associated with end-stage renal disease, albuminuria, serum creatinine, diabetes, coronary heart disease, and increased triglyceride levels. These associations have prompted further basic science research, which has led to the discovery of novel pathways and a better understanding of the pathophysiology of common diseases. Currently, the ability to translate these discoveries into clinical practice is limited by the small effect size of these risk alleles and a lack of studies showing meaningful impact of genetic variation on risk assessment and clinical outcomes. Advances in genetic testing will continue to yield highly significant associations but translation into clinical practice will require effective collaboration between physicians and basic and social scientists. Rigorous clinical trials eventually will reveal which combination of genetic tests improves risk stratification and identifies individuals most likely to benefit from specific prevention strategies and therapies.

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Year:  2010        PMID: 20347648      PMCID: PMC2847783          DOI: 10.1016/j.semnephrol.2010.01.010

Source DB:  PubMed          Journal:  Semin Nephrol        ISSN: 0270-9295            Impact factor:   5.299


  50 in total

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2.  Evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond.

Authors:  Michael J Pencina; Ralph B D'Agostino; Ralph B D'Agostino; Ramachandran S Vasan
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3.  Genome scan of glomerular filtration rate and albuminuria: the HyperGEN study.

Authors:  Joanlise M Leon; Barry I Freedman; Michael B Miller; Kari E North; Steven C Hunt; John H Eckfeldt; Cora E Lewis; Aldi T Kraja; Luc Djoussé; Donna K Arnett
Journal:  Nephrol Dial Transplant       Date:  2006-12-21       Impact factor: 5.992

4.  SCreening for Occult REnal Disease (SCORED): a simple prediction model for chronic kidney disease.

Authors:  Heejung Bang; Suma Vupputuri; David A Shoham; Philip J Klemmer; Ronald J Falk; Madhu Mazumdar; Debbie Gipson; Romulo E Colindres; Abhijit V Kshirsagar
Journal:  Arch Intern Med       Date:  2007-02-26

5.  Polygenic determinants of severe hypertriglyceridemia.

Authors:  Jian Wang; Matthew R Ban; Guang Yong Zou; Henian Cao; Tim Lin; Brooke A Kennedy; Sonia Anand; Salim Yusuf; Murray W Huff; Rebecca L Pollex; Robert A Hegele
Journal:  Hum Mol Genet       Date:  2008-07-01       Impact factor: 6.150

6.  Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia.

Authors:  Jeroen B van der Net; Jeroen van Etten; Mojgan Yazdanpanah; Geesje M Dallinga-Thie; John J P Kastelein; Joep C Defesche; Richard P Koopmans; Ewout W Steyerberg; Eric J G Sijbrands
Journal:  Eur Heart J       Date:  2008-04-14       Impact factor: 29.983

7.  A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

Authors:  Timothy M Frayling; Nicholas J Timpson; Michael N Weedon; Eleftheria Zeggini; Rachel M Freathy; Cecilia M Lindgren; John R B Perry; Katherine S Elliott; Hana Lango; Nigel W Rayner; Beverley Shields; Lorna W Harries; Jeffrey C Barrett; Sian Ellard; Christopher J Groves; Bridget Knight; Ann-Marie Patch; Andrew R Ness; Shah Ebrahim; Debbie A Lawlor; Susan M Ring; Yoav Ben-Shlomo; Marjo-Riitta Jarvelin; Ulla Sovio; Amanda J Bennett; David Melzer; Luigi Ferrucci; Ruth J F Loos; Inês Barroso; Nicholas J Wareham; Fredrik Karpe; Katharine R Owen; Lon R Cardon; Mark Walker; Graham A Hitman; Colin N A Palmer; Alex S F Doney; Andrew D Morris; George Davey Smith; Andrew T Hattersley; Mark I McCarthy
Journal:  Science       Date:  2007-04-12       Impact factor: 47.728

8.  A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

Authors:  Laura J Scott; Karen L Mohlke; Lori L Bonnycastle; Cristen J Willer; Yun Li; William L Duren; Michael R Erdos; Heather M Stringham; Peter S Chines; Anne U Jackson; Ludmila Prokunina-Olsson; Chia-Jen Ding; Amy J Swift; Narisu Narisu; Tianle Hu; Randall Pruim; Rui Xiao; Xiao-Yi Li; Karen N Conneely; Nancy L Riebow; Andrew G Sprau; Maurine Tong; Peggy P White; Kurt N Hetrick; Michael W Barnhart; Craig W Bark; Janet L Goldstein; Lee Watkins; Fang Xiang; Jouko Saramies; Thomas A Buchanan; Richard M Watanabe; Timo T Valle; Leena Kinnunen; Gonçalo R Abecasis; Elizabeth W Pugh; Kimberly F Doheny; Richard N Bergman; Jaakko Tuomilehto; Francis S Collins; Michael Boehnke
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

9.  Genome-wide association analysis identifies 20 loci that influence adult height.

Authors:  Michael N Weedon; Hana Lango; Cecilia M Lindgren; Chris Wallace; David M Evans; Massimo Mangino; Rachel M Freathy; John R B Perry; Suzanne Stevens; Alistair S Hall; Nilesh J Samani; Beverly Shields; Inga Prokopenko; Martin Farrall; Anna Dominiczak; Toby Johnson; Sven Bergmann; Jacques S Beckmann; Peter Vollenweider; Dawn M Waterworth; Vincent Mooser; Colin N A Palmer; Andrew D Morris; Willem H Ouwehand; Jing Hua Zhao; Shengxu Li; Ruth J F Loos; Inês Barroso; Panagiotis Deloukas; Manjinder S Sandhu; Eleanor Wheeler; Nicole Soranzo; Michael Inouye; Nicholas J Wareham; Mark Caulfield; Patricia B Munroe; Andrew T Hattersley; Mark I McCarthy; Timothy M Frayling
Journal:  Nat Genet       Date:  2008-04-06       Impact factor: 38.330

10.  Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Authors:  Weizhen Ji; Jia Nee Foo; Brian J O'Roak; Hongyu Zhao; Martin G Larson; David B Simon; Christopher Newton-Cheh; Matthew W State; Daniel Levy; Richard P Lifton
Journal:  Nat Genet       Date:  2008-04-06       Impact factor: 38.330

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  1 in total

1.  Apolipoprotein L1 gene variants in deceased organ donors are associated with renal allograft failure.

Authors:  B I Freedman; B A Julian; S O Pastan; A K Israni; D Schladt; M D Gautreaux; V Hauptfeld; R A Bray; H M Gebel; A D Kirk; R S Gaston; J Rogers; A C Farney; G Orlando; R J Stratta; S Mohan; L Ma; C D Langefeld; P J Hicks; N D Palmer; P L Adams; A Palanisamy; A M Reeves-Daniel; J Divers
Journal:  Am J Transplant       Date:  2015-03-24       Impact factor: 8.086

  1 in total

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