Association of Genetic Variants at 3q22 with Nephropathy in Patients with Type 1 Diabetes Mellitus

American Journal of Human Genetics

Volumn 84, Issue 1, 2009, Pages 5-13

  He, Bing ^a   Österholm, Anne May ^a   Hoverfält, Anna ^b   Forsblom, Carol ^b   Hjörleifsdóttir, Eyrún Edda ^a   Nilsson, Ann Sofie ^a   Parkkonen, Maikki ^b   Pitkäniemi, Janne ^c   Hreidarsson, Ástrádur ^d   Sarti, Cinzia ^c   McKnight, Amy Jayne ^e   Maxwell, A Peter ^e   Tuomilehto, Jaakko ^c   Groop, Per Henrik ^b   Tryggvason, Karl ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^e QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ALBUMIN; ANTIHYPERTENSIVE AGENT; HIGH MOBILITY GROUP PROTEIN; INTERLEUKIN 20 RECEPTOR BETA; INTERLEUKIN RECEPTOR; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 3Q; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DIABETIC RETINOPATHY; DIASTOLIC BLOOD PRESSURE; DISEASE DURATION; FEMALE; FINLAND; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERTENSION; ICELAND; INSULIN DEPENDENT DIABETES MELLITUS; LASER SURGERY; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MORTALITY; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; UNITED KINGDOM;

EID: 58149105312     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.11.012     Document Type: Article

References (27)

1. Parving H.-H., Mauer M., and Ritz E. Diabetic nephropathy. In: Brenner B.M. (Ed). The Kidney. Seventh Edition (2004), Saunders, Philadelphia, USA 1777-1818
2. American Diabetes Association. Diabetic nephropathy. Diabetes Care 25 (supp 1) (2002) S85-S89
3. Andersen A.R., Christiansen J.S., Andersen J.K., Kreiner S., and Deckert T. Diabetic nephropathy in type 1 (insulin-dependent) diabetes: an epidemiological study. Diabetologia 25 (1983) 496-501
4. Krolewski A.S., Warram J.H., Christlieb A.R., Busick E.J., and Kahn C.R. The changing natural history of nephropathy in type 1 diabetes. Am. J. Med. 78 (1985) 785-794
5. Seaquist E.R., Goetz F.C., Rich S., and Barbosa J. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N. Engl. J. Med. 320 (1989) 1161-1165
6. Quinn M., Angelico M.C., Warram J.H., and Krolewski A.S. Familial factors determine the development of diabetic nephropathy in patients with IDDM. Diabetologia 39 (1996) 940-945
7. Harjutsalo V., Katoh S., Sarti C., Tajima N., and Tuomilehto J. Population-based assessment of familial clustering of diabetic nephropathy in type 1 diabetes. Diabetes 53 (2004) 2449-2454
8. Iyengar S.K., Freedman B.I., and Sedor J.R. Mining the genome for susceptibility to diabetic nephropathy: the role of large-scale studies and consortia. Semin. Nephrol. 27 (2007) 208-222
9. Österholm A.-M., He B., Pitkäniemi J., Albinsson L., Berg T., Sarti C., Tuomilehto J., and Tryggvason K. 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 (2007) 140-145
10. Imperatore G., Hanson R.L., Pettitt D.J., Kobes S., Bennett P.H., and Knowler W.C. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes 47 (1998) 821-830
11. Moczulski D.K., Rogus J.J., Antonellis A., Warram J.H., and Krolewski A.S. Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis. Diabetes 47 (1998) 1164-1169
12. Bowden D.W., Colicigno C.J., Langefeld C.D., Sale M.M., Williams A., Anderson P.J., Rich S.S., and Freedman B.I. A genome scan for diabetic nephropathy in African Americans. Kidney Int. 66 (2004) 1517-1526
13. Parving H.-H., Hommel E., Mathiesen E., Skøtt P., Edsberg B., Bahnsen M., Lauritzen M., Hougaard P., and Lauritzen E. Prevalence of microalbuminuria, arterial hypertension, retinopathy, and neuropathy in patients with insulin dependent diabetes. BMJ 296 (1988) 156-160
14. Thorn L.M., Forsblom C., Fagerudd J., Thomas M.C., Pettersson-Fernholm K., Saraheimo M., Wadén J., Rönnback M., Rosengård-Bärlund M., Björkesten C.G., et al. Metabolic syndrome in type 1 diabetes: association with diabetic nephropathy and glycemic control (the FinnDiane study). Diabetes Care 28 (2005) 2019-2024
15. de Bakker P.I., Yelensky R., Pe'er I., Gabriel S.B., Daly M.J., and Altshuler D. Efficiency and power in genetic association studies. Nat. Genet. 38 (2006) 663-667
16. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., de Bakker P.I., Daly M.J., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81 (2007) 559-575
17. Devlin B., and Roeder K. Genomic control for association studies. Biometrics 55 (1999) 997-1004
18. Pritchard J.K., Stephens M., and Donnelly P. Inference of population structure using multilocus genotype data. Genetics 155 (2000) 945-959
19. Hsieh M.Y., Chen W.Y., Jiang M.J., Cheng B.C., Huang T.Y., and Chang M.S. Interleukin-20 promotes angiogenesis in a direct and indirect manner. Genes Immun. 7 (2006) 234-242
20. Jones N., Blasutig I.M., Eremina V., Ruston J.M., Bladt F., Li H., Huang H., Larose L., Li S.S., Takano T., et al. Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature 440 (2006) 818-823
21. Verma R., Kovari I., Soofi A., Nihalani D., Patrie K., and Holzman L.B. Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization. J. Clin. Invest. 116 (2006) 1346-1359
22. Vionnet N., Tregouet D., Kazeem G., Gut I., Groop P.H., Tarnow L., Parving H.H., Hadjadj S., Forsblom C., Farrall M., et al. Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations. Diabetes 55 (2006) 3166-3174
23. Arun C.S., Stoddart J., Mackin P., MacLeod J.M., New J.P., and Marshall S.M. Significance of mircoalbuminuria in long-duration type 1 diabetes. Diabetes Care 26 (2003) 2144-2149
24. Ritz E., and Dikow R. Hypertension and antihypertensive treatment of diabetic nephropathy. Nat. Clin. Pract. Nephrol. 2 (2006) 562-567
25. Hirschhorn J.N., Lohmueller K., Byrne E., and Hirschhorn K. A comprehensive review of genetic association studies. Genet. Med. 4 (2002) 45-61
26. Diabetes Genetics Initiative. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316 (2007) 1331-1336
27. De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J., Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P., et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 312 (2006) 1215-1217