Article
Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.
PloS one - 1 Jan 2012
Köttgen Anna, Yang Qiong, Shimmin Lawrence C, Tin Adrienne, Schaeffer Céline, Coresh Josef, Liu Xuan, Rampoldi Luca, Hwang Shih-Jen, Boerwinkle Eric, Hixson James E, Kao W H Linda, Fox Caroline S
Abstract excerpt
BACKGROUND: Recent genome-wide association studies (GWAS) have identified common variants in the UMOD region associated with kidney function and disease in the general population. To identify novel rare variants as well as common variants that may account for this GWAS signal, the exons and 4 kb upstream region of UMOD were sequenced. METHODOLOGY/PRINCIPAL FINDINGS: Individuals (n = 485) were selected based on...
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