Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans.

ABSTRACT:

Background and objectives

Presumed genetic risk for diabetic and nondiabetic end stage renal disease is strong in African Americans.

Design, setting, participants, & measurements

Exome sequencing data from African Americans with type 2 diabetic end stage renal disease and nondiabetic, non-nephropathy controls in the T2D-GENES study (Discovery, n=529 patients and n=535 controls) were evaluated, focusing on missense variants in NPHS1. Associated variants were then evaluated in independent type 2 diabetic end stage renal disease (Replication, n=1305 patients and n=760 controls), nondiabetic end stage renal disease (n=1705), and type 2 diabetes-only, non-nephropathy samples (n=503). All participants were recruited from dialysis facilities and internal medicine clinics across the

SUBMITTER: Bonomo JA 

PROVIDER: S-EPMC4123388 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature