Genetic association for renal traits among participants of African Ancestry reveals new loci for renal function

PLoS Genetics

Volumn 7, Issue 9, 2011, Pages

  Liu, Ching Ti ^a   Garnaas, Maija K ^b,c   Tin, Adrienne ^d   Kottgen, Anna ^d,e   Franceschini, Nora ^f   Peralta, Carmen A ^g   de Boer, Ian H ^h   Lu, Xiaoning ^a   Atkinson, Elizabeth ⁱ   Ding, Jingzhong ^j   Nalls, Michael ^k   Shriner, Daniel ^l   Coresh, Josef ^m   Kutlar, Abdullah ⁿ   Bibbins Domingo, Kirsten ^o   Siscovick, David ^h   Akylbekova, Ermeg ^p   Wyatt, Sharon ^q   Astor, Brad ^r   Mychaleckjy, Josef ^s   Li, Man ^d   Reilly, Muredach P ^t   Townsend, Raymond R ^t   Adeyemo, Adebowale ^l   Zonderman, Alan B ^u   de Andrade, Mariza ⁱ   Turner, Stephen T ⁱ   Mosley, Thomas H ^v   Harris, Tamara B ^u   Rotimi, Charles N ^l   Liu, Yongmei ^j   Kardia, Sharon L R ^w   Evans, Michele K ^u   Shlipak, Michael G ^o   Kramer, Holly ^x   Flessner, Michael F ^y   Dreisbach, Albert W ^v   Goessling, Wolfram ^b,c   Cupples, L Adrienne ^a   Kao, W Linda ^c   Fox, Caroline S ^b,z   more..

^a BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD STEM CELL INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e UNIVERSITY OF FREIBURG   (Germany)

^f IL   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ MAYO CLINIC   (United States)

^j WAKE FOREST SCHOOL OF MEDICINE   (United States)

^k NATIONAL INSTITUTES OF HEALTH   (United States)

^l NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^m JOHNS HOPKINS UNIVERSITY   (United States)

ⁿ MEDICAL COLLEGE OF GEORGIA   (United States)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p JACKSON STATE UNIVERSITY   (United States)

^q UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^r JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^s UNIVERSITY OF VIRGINIA   (United States)

^t UNIVERSITY OF PENNSYLVANIA   (United States)

^u NATIONAL INSTITUTE ON AGING   (United States)

^v UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^w UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^x LOYOLA UNIVERSITY CHICAGO   (United States)

^y NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^z FRAMINGHAM HEART STUDY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DOK6 PROTEIN, HUMAN; FNDC1 PROTEIN, HUMAN; POTASSIUM CHANNEL KCNQ1; TUMOR PROTEIN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

AFRICAN AMERICAN; AFRICAN ANCESTRY; ANIMAL TISSUE; ANXA9 GENE; ARTICLE; ATXN2 GENE; BCA53 GENE; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; DAB2 GENE; DNA FLANKING REGION; DOK6 GENE; EMBRYO; ETHNIC AND RACIAL GROUPS; FNDC1 GENE; GATM GENE; GCKR GENE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE SILENCING; GENETIC ASSOCIATION; GENETIC TRAIT; GLOMERULUS FILTRATION; GLOMERULUS FILTRATION RATE; HUMAN; KCNQ1 GENE; KIDNEY DEVELOPMENT; KIDNEY FUNCTION; MICROALBUMINURIA; NONHUMAN; PIP5K1B GENE; RENAL SYSTEM PARAMETERS; SINGLE NUCLEOTIDE POLYMORPHISM; SLC22A2 GENE; SLC6A13 GENE; TFDP2 GENE; TMEM60 GENE; UMOD GENE; URINARY ALBUMIN TO CREATININE RATIO; VEGFA GENE; ZEBRA FISH; ADULT; AGED; ANIMAL; CHRONIC KIDNEY FAILURE; FEMALE; GENETICS; GROWTH, DEVELOPMENT AND AGING; KIDNEY; MALE; META ANALYSIS; MIDDLE AGED; NEGRO; PHENOTYPE; PHYSIOLOGY;

DANIO RERIO;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; ANIMALS; FEMALE; GENE KNOCKDOWN TECHNIQUES; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GLOMERULAR FILTRATION RATE; HUMANS; KCNQ1 POTASSIUM CHANNEL; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; ZEBRAFISH;

EID: 80053483147     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002264     Document Type: Article

References (42)

1. Coresh J, Selvin E, Stevens LA, Manzi J, Kusek JW, et al. (2007) Prevalence of chronic kidney disease in the United States. JAMA 298: 2038-2047.
2. Fox CS, Muntner P, (2008) Trends in diabetes, high cholesterol, and hypertension in chronic kidney disease among U.S. adults: 1988-1994 to 1999-2004. Diabetes Care 31: 1337-1342.
3. Kottgen A, Glazer NL, Dehghan A, Hwang SJ, Katz R, et al. (2009) Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 41: 712-717.
4. Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, et al. (2010) New loci associated with kidney function and chronic kidney disease. Nat Genet 42: 376-384.
5. Fox CS, Yang Q, Cupples LA, Guo CY, Larson MG, et al. (2004) Genomewide Linkage Analysis to Serum Creatinine, GFR, and Creatinine Clearance in a Community-Based Population: The Framingham Heart Study. J Am Soc Nephrol 15: 2457-2461.
6. U.S. Renal Data System, USRDS 2008 Annual Data Report, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 2008.
7. Igo RP Jr, Iyengar SK, Nicholas SB, Goddard KA, Langefeld CD, et al. (2011) Genomewide Linkage Scan for Diabetic Renal Failure and Albuminuria: The FIND Study. Am J Nephrol 33: 381-389.
8. Schelling JR, Abboud HE, Nicholas SB, Pahl MV, Sedor JR, et al. (2008) Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND). Diabetes 57: 235-243.
9. Iyengar SK, Abboud HE, Goddard KA, Saad MF, Adler SG, et al. (2007) Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND). Diabetes 56: 1577-1585.
10. Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, et al. (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 40: 1185-1192.
11. Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, et al. (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40: 1175-1184.
12. Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, et al. (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329: 841-845.
13. Hsu CY, Lin F, Vittinghoff E, Shlipak MG, (2003) Racial differences in the progression from chronic renal insufficiency to end-stage renal disease in the United States. J Am Soc Nephrol 14: 2902-2907.
14. Hunsicker LG, Adler S, Caggiula A, England BK, Greene T, et al. (1997) Predictors of the progression of renal disease in the Modification of Diet in Renal Disease Study. Kidney Int 51: 1908-1919.
15. Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, et al. (2008) Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS ONE 3: e3583 doi:10.1371/journal.pone.0003583.
16. Chambers JC, Zhang W, Lord GM, van der HP, Lawlor DA, et al. (2010) Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 42: 373-375.
17. Lo KS, Wilson JG, Lange LA, Folsom AR, Galarneau G, et al. (2011) Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet 129: 307-317.
18. Boger CA, Chen MH, Tin A, Olden M, Kottgen A, et al. (2011) CUBN Is a Gene Locus for Albuminuria. J Am Soc Nephrol.
19. Ashworth S, Teng B, Kaufeld J, Miller E, Tossidou I, et al. (2010) Cofilin-1 inactivation leads to proteinuria-studies in zebrafish, mice and humans. PLoS ONE 5: e12626 doi:10.1371/journal.pone.0012626.
20. Hentschel DM, Mengel M, Boehme L, Liebsch F, Albertin C, et al. (2007) Rapid screening of glomerular slit diaphragm integrity in larval zebrafish. Am J Physiol Renal Physiol 293: F1746-F1750.
21. Neumann-Haefelin E, Kramer-Zucker A, Slanchev K, Hartleben B, Noutsou F, et al. (2010) A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis. Hum Mol Genet 19: 2347-2359.
22. Vallon V, Grahammer F, Volkl H, Sandu CD, Richter K, et al. (2005) KCNQ1-dependent transport in renal and gastrointestinal epithelia. Proc Natl Acad Sci U S A 102: 17864-17869.
23. Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, et al. (2008) SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet 40: 1098-1102.
24. Hu C, Wang C, Zhang R, Ma X, Wang J, et al. (2009) Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population. Diabetologia 52: 1322-1325.
25. Ohshige T, Tanaka Y, Araki S, Babazono T, Toyoda M, et al. (2010) A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes. Diabetes Care 33: 842-846.
26. Crowder RJ, Enomoto H, Yang M, Johnson EM Jr, Milbrandt J, (2004) Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth. J Biol Chem 279: 42072-42081.
27. Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V, (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 380-383.
28. Hsu YH, Zillikens MC, Wilson SG, Farber CR, Demissie S, et al. (2010) An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. PLoS Genet 6: e1000977 doi:10.1371/journal.pgen.1000977.
29. Sato M, Cismowski MJ, Toyota E, Smrcka AV, Lucchesi PA, et al. (2006) Identification of a receptor-independent activator of G protein signaling (AGS8) in ischemic heart and its interaction with Gbetagamma. Proc Natl Acad Sci U S A 103: 797-802.
30. Sato M, Jiao Q, Honda T, Kurotani R, Toyota E, et al. (2009) Activator of G protein signaling 8 (AGS8) is required for hypoxia-induced apoptosis of cardiomyocytes: role of G betagamma and connexin 43 (CX43). J Biol Chem 284: 31431-31440.
31. Kramer-Zucker AG, Wiessner S, Jensen AM, Drummond IA, (2005) Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes. Dev Biol 285: 316-329.
32. Drummond IA, (2005) Kidney development and disease in the zebrafish. J Am Soc Nephrol 16: 299-304.
33. Hentschel DM, Park KM, Cilenti L, Zervos AS, Drummond I, et al. (2005) Acute renal failure in zebrafish: a novel system to study a complex disease. Am J Physiol Renal Physiol 288: F923-F929.
34. Hyvarinen J, Parikka M, Sormunen R, Ramet M, Tryggvason K, et al. (2010) Deficiency of a transmembrane prolyl 4-hydroxylase in the zebrafish leads to basement membrane defects and compromised kidney function. J Biol Chem.
35. Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38: 1397-1405.
36. Coresh J, Astor BC, McQuillan G, Kusek J, Greene T, et al. (2002) Calibration and random variation of the serum creatinine assay as critical elements of using equations to estimate glomerular filtration rate. Am J Kidney Dis 39: 920-929.
37. Fox CS, Larson MG, Leip EP, Culleton B, Wilson PW, et al. (2004) Predictors of new-onset kidney disease in a community-based population. JAMA 291: 844-850.
38. Klahr S, Levey AS, Beck GJ, Caggiula AW, Hunsicker L, et al. (1994) The effects of dietary protein restriction and blood-pressure control on the progression of chronic renal disease. Modification of Diet in Renal Disease Study Group. N Engl J Med 330: 877-884.
39. Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, et al. (2009) Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet 84: 235-250.
40. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
41. Drummond IA, Majumdar A, Hentschel H, Elger M, Solnica-Krezel L, et al. (1998) Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function. Development 125: 4655-4667.
42. Wingert RA, Selleck R, Yu J, Song HD, Chen Z, et al. (2007) The cdx genes and retinoic acid control the positioning and segmentation of the zebrafish pronephros. PLoS Genet 3: e189 doi:10.1371/journal.pgen.0030189.