CLDN14基因中的序列变异与肾结石和骨矿物质密度相关。
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
作者信息
Thorleifsson Gudmar, Holm Hilma, Edvardsson Vidar, Walters G Bragi, Styrkarsdottir Unnur, Gudbjartsson Daniel F, Sulem Patrick, Halldorsson Bjarni V, de Vegt Femmie, d'Ancona Frank C H, den Heijer Martin, Franzson Leifur, Christiansen Claus, Alexandersen Peter, Rafnar Thorunn, Kristjansson Kristleifur, Sigurdsson Gunnar, Kiemeney Lambertus A, Bodvarsson Magnus, Indridason Olafur S, Palsson Runolfur, Kong Augustine, Thorsteinsdottir Unnur, Stefansson Kari
机构信息
DeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
出版信息
Nat Genet. 2009 Aug;41(8):926-30. doi: 10.1038/ng.404. Epub 2009 Jun 28.
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).
肾结石病是一种常见病症。为了寻找赋予肾结石患病风险的序列变异，我们对来自冰岛和荷兰的3773例病例及42510例对照进行了全基因组关联研究。我们在CLDN14基因中发现了与肾结石相关的常见同义变异（rs219780[C]的比值比=1.25，P=4.0×10⁻¹²）。普通人群中约62%为rs219780[C]纯合子，据估计与非携带者相比，患该病的风险高1.64倍。CLDN14基因在肾脏中表达，并调节上皮紧密连接处的细胞旁通透性。还发现相同变异与髋部（P=0.00039）和脊柱（P=0.0077）骨密度降低相关。
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