Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis.

ABSTRACT:

Background

CaSR gene is a candidate for calcium nephrolithiasis. Single-nucleotide polymorphisms (SNPs) encompassing its regulatory region were associated with calcium nephrolithiasis.

Aims

We tested SNPs in the CaSR gene regulatory region associated with calcium nephrolithiasis and their effects in kidney.

Subjects and methods

One hundred sixty-seven idiopathic calcium stone formers and 214 healthy controls were genotyped for four CaSR gene SNPs identified by bioinformatics analysis as modifying transcription factor binding sites. Strontium excretion after an oral load was tested in 55 stone formers. Transcriptional activity induced by variant alleles at CaSR gene promoters was compared by luciferase reporter gene assay in HEK-293 and HKC-8 cells. CaSR and claudin-14

SUBMITTER: Vezzoli G 

PROVIDER: S-EPMC3763974 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature