Böger et al., 2011
https://pubmed.ncbi.nlm.nih.gov/21355061/
CUBN is a gene locus for albuminuria
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.
Data set description
- All files are based on analyses in the overall samples of participants of European ancestry.
- Within each file, the data are presented as follows:
- rsID: rs-identifier
- allele1: is the coded allele
- allele2: is the noncoded allele
- freqA1: is the frequency of allele1 from the Hapmap CEU sample
- direction: refers to the direction of effect for allele1. Can be +/-/0
- pval: is the double GC corrected p-value
Phenotypes
- UACR, n=31,580
- MA, n=30,482
Citation
Reference The preferred citation is as follows:
- Böger CA, Chen MH, Tin A, et al. CUBN Is a Gene Locus for Albuminuria. J Am Soc Nephrol 2011 Mar;22(3):555-70.