Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q

Baldwin, C T; Farrer, L A; Adair, R; Dharmavaram, R; Jimenez, S; Anderson, L

Title: Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q

Full Record
Other Related Research

Abstract

Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.

Authors:

Baldwin, C T; Farrer, L A; Adair, R ^[1]; Dharmavaram, R; Jimenez, S ^[2]; Anderson, L ^[3]

Boston Univ. School of Medicine, MA (United States)
Thomas Jefferson Univ., Philadelphia, PA (United States)
Rheumatology Associates, Portland, ME (United States)

Publication Date:: Wed Mar 01 00:00:00 EST 1995

OSTI Identifier:: 70446

Resource Type:: Journal Article

Journal Name:: American Journal of Human Genetics

Additional Journal Information:: Journal Volume: 56; Journal Issue: 3; Other Information: PBD: Mar 1995

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; DOMINANT MUTATIONS; PATIENTS; HEREDITARY DISEASES; RHEUMATIC DISEASES; HUMAN CHROMOSOME 8; GENETIC MAPPING; STATISTICS; PHENOTYPE; TISSUES; OLIGONUCLEOTIDES

Citation Formats


                    Baldwin, C T, Farrer, L A, Adair, R, Dharmavaram, R, Jimenez, S, and Anderson, L. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.  United States: N. p., 1995. 
        Web.

Copy to clipboard


                    Baldwin, C T, Farrer, L A, Adair, R, Dharmavaram, R, Jimenez, S, & Anderson, L. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.  United States.

Copy to clipboard


                    Baldwin, C T, Farrer, L A, Adair, R, Dharmavaram, R, Jimenez, S, and Anderson, L. 1995.  
        "Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q".  United States.

Copy to clipboard


                    
@article{osti_70446,

  title        = {Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q},

  author       = {Baldwin, C T and Farrer, L A and Adair, R and Dharmavaram, R and Jimenez, S and Anderson, L},

  abstractNote = {Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/70446},
  journal      = {American Journal of Human Genetics},
number       = 3,

  volume       = 56,

  place        = {United States},

  year         = {Wed Mar 01 00:00:00 EST 1995},

  month        = {Wed Mar 01 00:00:00 EST 1995}

}

Copy to clipboard

Journal Article:

Other availability

Find in Google Scholar

Search WorldCat to find libraries that may hold this journal

Save / Share:

Export Metadata

Save to My Library

Similar records in OSTI.GOV collections:

Antibiotic Treatment Prior to Injury Abrogates the Detrimental Effects of LPS in STR/ort Mice Susceptible to Osteoarthritis Development

Journal Article Mendez, Melanie; Murugesh, Deepa; Christiansen, Blaine; ... - JBMR Plus

Post traumatic osteoarthritis (PTOA) is a form of secondary osteoarthritis (OA) that develops in ~50% of cases of severe articular joint injuries and leads to chronic and progressive degradation of articular cartilage and other joint tissues. PTOA progression can be exacerbated by repeated injury and systemic inflammation. Few studies have examined approaches for blunting or slowing down PTOA progression with emphasis on systemic inflammation; most arthritis studies focused on the immune system have been in the context of rheumatoid arthritis. To examine how the gut microbiome affects systemic inflammation during PTOA development, we used a chronic antibiotic treatment regimen startingmore »« less
https://doi.org/10.1002/jbm4.10759

Full Text Available
Homozygosity mapping of the Werner syndrome locus (WRN)

Journal Article Nakura, J; Miki, T; Kamino, K - Genomics

Werner syndrome (WS) is an autosomal recessive disorder characterized by the early onset of several age-related diseases. The locus for this disease was recently mapped to 8p12. We studied 27 WS kindreds of mixed ethnic origins, 26 of which were consanguineous. In 24 of these families, the affected subject was given the diagnosis of {open_quotes}definite{close_quotes} WS and affected subjects in the remaining 3 pedigrees were given the diagnosis of {open_quotes}probable{close_quotes} WS. Affected subjects from each kindred were genotyped for 13 short tandem repeat polymorphic sites. Two-point linkage analysis yielded significant evidence for linkage to D8S137, D8S339, D8S87, PLAT, D8S165, andmore »« less
https://doi.org/10.1006/geno.1994.1548
LPS-Induced Inflammation Prior to Injury Exacerbates the Development of Post-Traumatic Osteoarthritis in Mice

Journal Article Mendez, Melanie; Sebastian, Aimy; Murugesh, Deepa; ... - Journal of Bone and Mineral Research

Osteoarthritis (OA) is a debilitating and painful disease characterized by the progressive loss of articular cartilage. Post-traumatic osteoarthritis (PTOA) is an injury-induced type of OA that persists in an asymptomatic phase for years before it becomes diagnosed in ~50% of injured individuals. Although PTOA is not classified as an inflammatory disease, it has been suggested that inflammation could be a major driver of PTOA development. Here we examined whether a state of systemic inflammation induced by lipopolysaccharide (LPS) administration 5-days before injury would modulate PTOA outcomes. RNA-seq analysis at 1-day post-injury followed by micro-computed tomography (μCT) and histology characterization atmore »« less
https://doi.org/10.1002/jbmr.4117
The epigenetic effect of glucosamine and a nuclear factor-kappa B (NF-kB) inhibitor on primary human chondrocytes - Implications for osteoarthritis

Journal Article Imagawa, Kei; Andres, MC; Hashimoto, Ko; ... - Biochemical and Biophysical Research Communications

Research highlights: {yields} Glucosamine and a NF-kB inhibitor reduce inflammation in OA. {yields} Cytokine induced demethylation of CpG site in IL1{beta} promoter prevented by glucosamine. {yields} Glucosamine and NF-kB inhibitor have epigenetic effects on human chondrocytes. -- Abstract: Objective: Idiopathic osteoarthritis is the most common form of osteoarthritis (OA) world-wide and remains the leading cause of disability and the associated socio-economic burden in an increasing aging population. Traditionally, OA has been viewed as a degenerative joint disease characterized by progressive destruction of the articular cartilage and changes in the subchondral bone culminating in joint failure. However, the etiology of OAmore »« less
https://doi.org/10.1016/J.BBRC.2011.01.007
Single-Cell RNA-Seq Reveals Transcriptomic Heterogeneity and Post-Traumatic Osteoarthritis-Associated Early Molecular Changes in Mouse Articular Chondrocytes

Journal Article Sebastian, Aimy; McCool, Jillian; Hum, Nicholas; ... - Cells

Articular cartilage is a connective tissue lining the surfaces of synovial joints. When the cartilage severely wears down, it leads to osteoarthritis (OA), a debilitating disease that affects millions of people globally. The articular cartilage is composed of a dense extracellular matrix (ECM) with a sparse distribution of chondrocytes with varying morphology and potentially different functions. Elucidating the molecular and functional profiles of various chondrocyte subtypes and understanding the interplay between these chondrocyte subtypes and other cell types in the joint will greatly expand our understanding of joint biology and OA pathology. Although recent advances in high-throughput OMICS technologies havemore »« less
https://doi.org/10.3390/cells10061462

Similar Records