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Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. 2009
Gudmar Thorleifsson, and
Hilma Holm, and
Vidar Edvardsson, and
G Bragi Walters, and
Unnur Styrkarsdottir, and
Daniel F Gudbjartsson, and
Patrick Sulem, and
Bjarni V Halldorsson, and
Femmie de Vegt, and
Frank C H d'Ancona, and
Martin den Heijer, and
Leifur Franzson, and
Claus Christiansen, and
Peter Alexandersen, and
Thorunn Rafnar, and
Kristleifur Kristjansson, and
Gunnar Sigurdsson, and
Lambertus A Kiemeney, and
Magnus Bodvarsson, and
Olafur S Indridason, and
Runolfur Palsson, and
Augustine Kong, and
Unnur Thorsteinsdottir, and
Kari Stefansson
DeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. gudmar.thorleifsson@decode.is
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).
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