Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.

ABSTRACT:

Background

Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in 2 separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 (PH1) and 2 (PH2), respectively. Studies of null Slc26a6(-/-) mice have shown a phenotype of hyperoxaluria, hyperoxalemia, and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may cause or modify hyperoxaluria in humans.

Study design

Cross-sectional case-control.

Setting & participants

Cases were recruited from the International Primary Hyperoxaluria Registry. Control DNA samples were from a pool of adult subjects who identified themselves as being in good health.

Predictor

PH1, PH2, and non-PH1/PH2 genotypes in cases.

Outcome

SUBMITTER: Monico CG 

PROVIDER: S-EPMC2710965 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature