Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

@article{Suk2005AssociationOE,
  title={Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population},
  author={Eun-Kyung Suk and Ida Malkin and Stefan Dahm and Leonid Kalichman and Nico Ruf and Eugene Kobyliansky and Mohammad Reza Toliat and Frank Rutsch and Peter J. N{\"u}rnberg and G. Livshits},
  journal={Arthritis Research \& Therapy},
  year={2005},
  volume={7},
  pages={R1082 - R1090}
}
Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This prompted us to perform a family-based association study to test the hypothesis that genetic variation at the ENPP1 locus is involved in the etiology of osteoarthritis of the hand. The study population comprised 126 nuclear families with 574 adult… Expand
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis
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The results suggest that neither ANKH nor ENPP1 mutations are the cause of CC in Slovakian kindreds with familial CC, indicating that possibly other major genes are involved in the aethiopathogenesis of this condition in these families. Expand
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TLDR
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Crystals in hand
  • J. Loughlin
  • Biology, Medicine
  • Arthritis research & therapy
  • 2005
TLDR
The study stimulates interest and will encourage others in the field to test ENPP1 as a possible osteoarthritis susceptibility gene in their cohorts, and it constitutes another interesting find. Expand
Genetics of digital osteoarthritis.
  • L. Michou
  • Biology, Medicine
  • Joint, bone, spine : revue du rhumatisme
  • 2011
TLDR
A recently published genome-wide association study showed that an A2BP1 gene polymorphism was significantly associated with hand osteoarthritis, and many candidate-gene studies found associations with AGC1, ASPN, ENPP1, HFE, KL, VDR, IL-1 cluster, and IL-6, although the results were not consistently reproducible. Expand
Strong association between polymorphisms in ANKH locus and skeletal size traits
TLDR
For the first time the reliable evidence in support of universality of ANKH gene polymorphisms effect on bone size was provided and significant associations with practically all the anthropometrical phenotypes studied. Expand
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