A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.

@article{Mototani2005AFS,
  title={A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.},
  author={Hideyuki Mototani and Akihiko Mabuchi and Susumu Saito and Mikihiro Fujioka and Aritoshi Iida and Yoshio Takatori and Akihiro Kotani and Toshikazu Kubo and Kozo Nakamura and Akihiro Sekine and Yoshinori Murakami and Tatsuhiko Tsunoda and Kohei Notoya and Yusuke Nakamura and Shiro Ikegawa},
  journal={Human molecular genetics},
  year={2005},
  volume={14 8},
  pages={1009-17}
}
Osteoarthritis (OA), a common skeletal disease, is a leading cause of disability among the elderly populations. OA is characterized by gradual loss of articular cartilage, but the etiology and pathogenesis of OA are largely unknown. Epidemiological and genetic studies have demonstrated that genetic factors play an important role in OA. To identify susceptibility genes for OA, we performed a large-scale, case-control association study using gene-based single nucleotide polymorphisms (SNPs). In… CONTINUE READING

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CALM1 geneGene encodes gene productCalmodulin 1
In two independent case - control populations , we found significant association ( P=9.8x10(-7 ) ) between hip OA and a SNP ( IVS3 - 293C > T ) located in intron 3 of the calmodulin ( CaM ) 1 gene ( CALM1 ) .
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