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Article

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

Human molecular genetics - 1 Jun 2008

Suzuki Yoshiro, Pasch Andreas, Bonny Olivier, Mohaupt Markus G, Hediger Matthias A, Frey Felix J

Abstract excerpt

The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) was significantly higher (P = 0.039) in calcium stone formers (8.4%; derived = 502, ancestral =...

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Source

Identifiers

PMID: 18276610
DOI: 10.1093/hmg/ddn048

Genes

TRPV6
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.PMID 18276610Read ↗

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