Association between genotype and phenotype in uromodulin-associated kidney disease.

ABSTRACT:

Background and objectives

Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD.

Design, setting, participants & measurements

Extensive bibliographic research was used to ascertain patient-level data of all patients with UAKD published up to October 2011. Data included sex; ages at onset of hyperuricemia, gout, and ESRD; and UMOD genotype. Kaplan-Meier analysis and Cox proportional hazards models fitted with shared gamma frailty terms to adjust for within-family correlations were used to model time to event.

Results

Thirty-one peer-reviewed publications report

SUBMITTER: Moskowitz JL 

PROVIDER: S-EPMC3731914 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature