CUBN is a gene locus for albuminuria.

TitleCUBN is a gene locus for albuminuria.
Publication TypeJournal Article
Year of Publication2011
AuthorsBöger CA, Chen M-H, Tin A, Olden M, Köttgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A et al.
Corporate AuthorsCKDGen consortium
JournalJ Am Soc Nephrol
Volume22
Issue3
Pagination555-70
Date Published2011 Mar
ISSN1533-3450
KeywordsAfrican Continental Ancestry Group, Albuminuria, European Continental Ancestry Group, Genetic Loci, Genetic Predisposition to Disease, Humans, Mutation, Missense, Receptors, Cell Surface
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.

DOI10.1681/ASN.2010060598
Alternate JournalJ. Am. Soc. Nephrol.
PubMed ID21355061
PubMed Central IDPMC3060449
Grant List1 R01 DK075787-01A1 / DK / NIDDK NIH HHS / United States
1R01AG032098-01A1 / AG / NIA NIH HHS / United States
CA050385 / CA / NCI NIH HHS / United States
CA087969 / CA / NCI NIH HHS / United States
DK007791 / DK / NIDDK NIH HHS / United States
DK063491 / DK / NIDDK NIH HHS / United States
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HL 46380 / HL / NHLBI NIH HHS / United States
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P 20545-B05 / / Austrian Science Fund FWF / Austria
P30 DK072488 / DK / NIDDK NIH HHS / United States
P60 DK079637 / DK / NIDDK NIH HHS / United States
R01 AG027002 / AG / NIA NIH HHS / United States
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