Sequence Variants in the CLDN14 Gene Associate with Kidney Stones and Bone Mineral Density

Overview

Journal Nat Genet

Specialty Genetics

Date 2009 Jun 30

PMID 19561606

Citations 142

Authors

Gudmar Thorleifsson

Hilma Holm

Vidar Edvardsson

G Bragi Walters

Unnur Styrkarsdottir

Daniel F Gudbjartsson

Patrick Sulem

Bjarni V Halldorsson

Femmie de Vegt

Frank C H dAncona

Martin den Heijer

Leifur Franzson

Claus Christiansen

Peter Alexandersen

Thorunn Rafnar

Kristleifur Kristjansson

Gunnar Sigurdsson

Lambertus A Kiemeney

Magnus Bodvarsson

Olafur S Indridason

Runolfur Palsson

Augustine Kong

Unnur Thorsteinsdottir

Kari Stefansson

Affiliations

Soon will be listed here.

Abstract

Kidney stone disease is a common condition. To search for sequence variants conferring risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and 42,510 controls from Iceland and The Netherlands. We discovered common, synonymous variants in the CLDN14 gene that associate with kidney stones (OR = 1.25 and P = 4.0 x 10(-12) for rs219780[C]). Approximately 62% of the general population is homozygous for rs219780[C] and is estimated to have 1.64 times greater risk of developing the disease compared to noncarriers. The CLDN14 gene is expressed in the kidney and regulates paracellular permeability at epithelial tight junctions. The same variants were also found to associate with reduced bone mineral density at the hip (P = 0.00039) and spine (P = 0.0077).

Citing Articles

Calcium sensing receptor regulate claudin-14 via PKA-STAT3 pathway in rat model of nephrolithiasis.

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Between a Rock and a Short Place-The Impact of Nephrolithiasis on Skeletal Growth and Development Across the Lifespan.

Heilberg I, Carvalho A, Denburg M Curr Osteoporos Rep. 2024; 22(6):576-589.

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Expression Profiles of Claudin Gene Family Members in Patients With Recurrent Calcium Oxalate Kidney Stones.

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Yu A, Curry J J Am Soc Nephrol. 2024; 35(12):1758-1767.

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