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… 
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Identification of sequence polymorphisms in CALM2 and analysis of association with hip osteoarthritis in a Japanese population
TLDR
The findings suggest that the CALM2 gene may be a genetic determinant of hip OA.
Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population
TLDR
The present study suggests that the CALM1 core promoter polymorphism -16C/T is not a risk factor for knee OA susceptibility in the Chinese Han population.
The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population.
A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis
TLDR
It is suggested that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis because of allelic differences on transcriptional activity in chondrogenic cells, with the susceptibility allele showing reduced activity.
Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin.
TLDR
The data implied that the -16TT (rs12885713) CALM1 core promoter genotype is not a risk factor for OA etiology in Greek Caucasians on its own, but associated with the Asporin (ASPN) D14 or D15 risk allele, it could influence KOA susceptibility.
The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the greek population
TLDR
The data implied that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA etiology in Greek Caucasians, highlighting the heterogeneous nature of OA genetic susceptibility.
New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study
TLDR
The results suggest that immunologic mechanism is implicated in the etiology of OA.
An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage
TLDR
The functional effect of the SNP on GDF5 allelic expression using RNA extracted from the cartilage of OA patients who had undergone joint-replacement surgery showed up to a 27% reduction in expression relative to the C-allele, revealing that the functional effect mediated by SNP rs143383 on G DF5 expression is active in patients who have severe disease up to the point at which they require surgery.
Association between the polymorphisms of CALM1 gene and osteoarthritis risk: a meta-analysis based on observational studies
TLDR
The rs12885713 and rs2300496 polymorphisms of the CALM1 gene may both increase the risk of OA, and this finding should be further confirmed in future well-designed studies.
Association of Intronic Single Nucleotide Polymorphism (SNP) of CALM 1 gene with Osteoarthritis of the Knee in Indian Population: A Case-control Study
TLDR
This case control study conducted in the Department of Orthopaedic Surgery, CSM Medical University, Lucknow in collaboration with IIT, Kanpur found that CALM-1 gene intronic SNP (rs3213718) is present in Indian population and occurrence of this SNP is significantly affecting the disease.
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