Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population

Human Genetics

Volumn 124, Issue 3, 2008, Pages 255-262

  Greene, Christopher N ^a   Keong, Lisa M ^a   Cordovado, Suzanne K ^a   Mueller, Patricia W ^a  

^a NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PLECKSTRIN; PLECKSTRIN HOMOLOGY DOMAIN CONTAINING FAMILY H MEMBER 2; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DIABETIC NEPHROPATHY; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; GLOMERULUS; HETEROZYGOTE; HLA MATCHING; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; DIABETES COMPLICATIONS; DIABETIC NEPHROPATHIES; GENES, MHC CLASS II; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HLA ANTIGENS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY GLOMERULUS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; RNA, MESSENGER;

EID: 53749099309     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0548-y     Document Type: Article

References (30)

1. Araki SI, Ng DPK, Krolewski B, Wyrwizc L, Rogus JJ, Canini L, Makita Y, Haneda M, Warram JH, Krolewski AS (2003) Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-β1 (PRKCB1) gene. J Am Soc Nephrol 14:2015-2024
2. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
3. Berg JS, Derfler BH, Pennisi CM, Corey DP, Cheney RE (2000) Myosin-X, a novel myosin with pleckstrin homology domains, associates with regions of dynamic actin. J Cell Sci 113:3439-3451
4. Bradbury BD, Fissell RB, Albert JM, Anthony MS, Critchlow CW, Pisoni RL, Port FK, Gillespie BW (2007) Predictors of early mortality among incident US hemodialysis patients in the dialysis outcomes and practice patterns study (DOPPS). Clin J Am Soc Nephrol 2:89-99
5. Carlson CS, Eberle ME, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA (2004) Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106-120
6. Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Hitesh J, Shih-Chun L, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa U, Huang S-C, Benz EJ, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Arpin M, Louvard D, Tonks NK, Anderson JM, Fanning AS, Bryant PJ, Woods DF, Hoover KB (1998) The FERM domain: A unique module involved in linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci 23:281-282
7. Chowdhary TA, Dyer PH, Kumar S, Barnett AH, Bain SC (1999) Genetic determinants of diabetic nephropathy. Clin Sci 96:221-230
8. Cordovado SK, Zhao Y, Warram JH, Gong H, Anderson KL, Hendrix MM, Hancock LN, Cleary PA, Mueller PW (2008) Risk of nephropathy in type I diabetes is diminished in carriers of HLA DRB1 04: The GoKinD Study. Diabetes 57:518-522
9. De La Vega FM, Isaak HI, Schafe CR (2006) A tool for selecting SNPs for association studies based on observed linkage disequilibrium patterns. Pac Symp Biocomput 11:487-498
10. Foley RN, Collins AJ (2007) End-stage renal disease in the United States: An update from the United States renal data system. J Am Soc Nephrol 18:2644-2648
11. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
12. Iyengar SK, Abboud HE, Goddard KAB, Saad MF, Adler SG, Arar NH, Bowden DW, Duggirala R, Elston RC, Hanson RL, Ipp E, Kao LWH, Kimmel PL, Klag MJ, Knowlwer WC, Meoni LA, Nelson RG, Nicholas SB, Pahl MV, Parekh RS, Quade SRE, Rich SS, Rotter JI, Scavini M, Schelling JR, Sedor JR, Sehgal AR, Shah VO, Smith MW, Taylor KD, Winkler CA, Zager PG, Freedman BI (2007) Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations. Diabetes 56:1577-1585
13. Kapranov P, Cheng J, Dike S, Nix DA, Duttagupta R, Willingham AT, Stadler PF, Hertel J, Hackermuller J, Hofacker IL, Bell I, Cheung E, Drenkow J, Dumais E, Patel S, Helt G, Ganesh M, Ghosh S, Piccolboni A, Sementchenko V, Tammana H, Gingeras TR (2007) RNA maps reveal new RNA classes and a possible function for pervasive transcription. Science 316:1484-1488
14. Lemmon MA, Ferguson KM, Abrams CS (2002) Pleckstrin homology domains and the cytoskeleton. FEBS Lett 513:71-76
15. Lindner TH, Mönks D, Wanner C, Berger M (2003) Genetic aspects of diabetic nephropathy. Kidney Int 63:S186-S191
16. Liu Y, Freedman BI (2005) Genetics of progressive renal failure in diabetic kidney disease. Kidney Int 68:S94-S97
17. Lucae S, Salyakina D, Barden N, Harvey M, Gagne B, Labbe M, Binder E, Uhr M, Paez-Pereda M, Sillaber I, Ising M, Bruckl T, Leib R, Holsboer F, Muller-Myshsok B (2006) P2RX7, a gene coding for a purigenic ligand-gated ion channel, is associated with major depressive disorder. Hum Mol Genet 15:2438-2445
18. Morten NE, Collins A (1998) Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 95:11389-11393
19. Mueller P, Rogus JJ, Cleary PA, Zhao Y, Smiles AM, Steffes MW, Bucksa J, Gibson T, Cordovado SK, Krolewski AS, Nierras CR, Warram JH (2006) Genetics of Kidneys in Diabetes (GoKinD) Study: A genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes. J Am Soc Nephrol 17:1782-1790
20. Osterholm A-M, He B, Pitkaniemi J, Albinsson L, Berg T, Sarti C, Tuomilehto J (2007) Genome-wide scan for type 1 diabetic nephropathy in the Finnish population reveals suggestive linkage to a single locus on chromosome 3q. Kidney Int 71:140-145
21. Patrakka J, Xiao Z, Nukui M, Takemoto M, He L, Oddsson A, Perisic L, Kaukinen A, Szigyarto CA-K, Uhlen M, Jalanko H, Betsholtz C, Tryggvason K (2007) Expression and subcellular distribution of novel glomerulus-associated proteins Dendrin, Ehd3, Sh2d4a, Plekhh2, and 2310066E14Rik. J Am Soc Nephrol 18:689-697
22. Purcell S, Cherny SS, Sham PC (2003) Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-150
23. Rockman MV, Kruglyak L (2006) Genetics of global gene expression. Nat Rev Genet 7:862-872
24. Rogus JJ, Warram JH, Krolewksi AS (2002) Genetic studies of late diabetic complications: The overlooked importance of diabetes duration before complication onset. Diabetes 51:1655-1662
25. Savage DA, Bain SC, McKnight AJ, Maxwell AP (2007) Gene discovery in diabetic nephropathy. Curr Diab Rep 7:139-145
26. Seaquist ER, Goetz FC, Rich SS, Barbosa J (1998) Familial clustering of diabetic kidney disease. N Eng J Med 320:1161-1165
27. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209-213
28. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
29. Taylor J, Tyekucheva S, King DC, Hardison RC, Miller W, Chiaromonte F (2006) ESPERR: Learning strong and weak signals in genomic sequence alignments to identify functional elements. Genome Res 16:1596-1604
30. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320