Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 1 3q
Article Abstract:
The characterization of a large Japenese family with an inherited disease of the hip that is indistinguishable from common hip osteoarthritis (OA), as evidenced by clinical symptoms and radiographs of the joint is reported. The family described represents a novel genetic entity as a monogenic form of hip OA and its further characterization could aid in elucidating the etiology and pathogenesis of a common idiopathic form of OA.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Association of the asporin D14 allele with lumbar-disc degeneration in Asians
Article Abstract:
Several candidate-gene association studies are conducted to explain the relation of asporin D14 allele (ASPN) with the lumbar-disc degeneration (LDD) in Asians. ASPN is found to act as a LDD gene in Asians, the expression of which increases with age and degeneration.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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A functional polymorphism in COL11A1, which encodes the [alpha]1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation
Article Abstract:
COL11A1, type XI collagen genes is identified as a gene for lumbar disc herniation (LDH) disease. It was observed that COL11A1 was highly expressed in intervertebral disc (IVD) but its expression was decreased in the IVD of patients with LDH.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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