DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Urinary albumin excretion. The EFO term albuminuria was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: albuminuria

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

CA Böger, MH Chen, A Tin, M Olden, A Köttgen, IH de Boer, C Fuchsberger, CM O'Seaghdha, C Pattaro, A Teumer, CT Liu, NL Glazer, M Li, JR O'Connell, T Tanaka, CA Peralta, Z Kutalik, J Luan, JH Zhao, SJ Hwang, E Akylbekova, H Kramer, P van der Harst, AV Smith, K Lohman, M de Andrade, C Hayward, B Kollerits, A Tönjes, T Aspelund, E Ingelsson, G Eiriksdottir, LJ Launer, TB Harris, AR Shuldiner, BD Mitchell, DE Arking, N Franceschini, E Boerwinkle, J Egan, D Hernandez, M Reilly, RR Townsend, T Lumley, DS Siscovick, BM Psaty, B Kestenbaum, T Haritunians, S Bergmann, P Vollenweider, G Waeber, V Mooser, D Waterworth, AD Johnson, JC Florez, JB Meigs, X Lu, ST Turner, EJ Atkinson, TS Leak, K Aasarød, F Skorpen, AC Syvänen, T Illig, J Baumert, W Koenig, BK Krämer, O Devuyst, JC Mychaleckyj, C Minelli, SJ Bakker, L Kedenko, B Paulweber, S Coassin, K Endlich, HK Kroemer, R Biffar, S Stracke, H Völzke, M Stumvoll, R Mägi, H Campbell, V Vitart, ND Hastie, V Gudnason, SL Kardia, Y Liu, O Polasek, G Curhan, F Kronenberg, I Prokopenko, I Rudan, J Arnlöv, S Hallan, G Navis, A Parsa, L Ferrucci, J Coresh, MG Shlipak, SB Bull, NJ Paterson, HE Wichmann, NJ Wareham, RJ Loos, JI Rotter, PP Pramstaller, LA Cupples, JS Beckmann, Q Yang, IM Heid, R Rettig, AW Dreisbach, M Bochud, CS Fox, WH Kao

TITLE:

CUBN is a gene locus for albuminuria.

JOURNAL:

Journal of the American Society of Nephrology : JASN Mar 2011, Vol 22, pp. 555-70

ABSTRACT:

Identification of genetic risk factors for albuminuria may alter strategies for early prevention of CKD progression, particularly among patients with diabetes. Little is known about the influence of common genetic variants on albuminuria in both general and diabetic populations. We performed a meta-analysis of data from 63,153 individuals of European ancestry with genotype information from genome-wide association studies (CKDGen Consortium) and from a large candidate gene study (CARe Consortium) to identify susceptibility loci for the quantitative trait urinary albumin-to-creatinine ratio (UACR) and the clinical diagnosis microalbuminuria. We identified an association between a missense variant (I2984V) in the CUBN gene, which encodes cubilin, and both UACR (P = 1.1 × 10(-11)) and microalbuminuria (P = 0.001). We observed similar associations among 6981 African Americans in the CARe Consortium. The associations between this variant and both UACR and microalbuminuria were significant in individuals of European ancestry regardless of diabetes status. Finally, this variant associated with a 41% increased risk for the development of persistent microalbuminuria during 20 years of follow-up among 1304 participants with type 1 diabetes in the prospective DCCT/EDIC Study. In summary, we identified a missense CUBN variant that associates with levels of albuminuria in both the general population and in individuals with diabetes. PUBMED: 21355061
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