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Genetic epidemiology: Systemic sclerosis
Systemic sclerosis (SSc) is a multisystem connective tissue disease characterised phenotypically by fibrosis and ischaemic atrophy. Its aetiology is most likely multifactorial. A genetic predisposition to the condition is suggested by reports of familial SSc (a positive family history is the strongest risk factor yet identified), by animal models, and by disease-association studies, in which researchers have examined a wide variety of genes including those involved in fibrosis, in vascular function and structure, and in autoimmunity – the relative rarity of SSc has precluded linkage studies, except in the Choctaw Indians. Recent advances in genetic methodologies should further our understanding of this complex disease process.
Complete Metadata
| @type | dcat:Dataset |
|---|---|
| accessLevel | public |
| bureauCode |
[
"009:25"
]
|
| contactPoint |
{
"fn": "NIH",
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"hasEmail": "mailto:info@nih.gov"
}
|
| description | Systemic sclerosis (SSc) is a multisystem connective tissue disease characterised phenotypically by fibrosis and ischaemic atrophy. Its aetiology is most likely multifactorial. A genetic predisposition to the condition is suggested by reports of familial SSc (a positive family history is the strongest risk factor yet identified), by animal models, and by disease-association studies, in which researchers have examined a wide variety of genes including those involved in fibrosis, in vascular function and structure, and in autoimmunity – the relative rarity of SSc has precluded linkage studies, except in the Choctaw Indians. Recent advances in genetic methodologies should further our understanding of this complex disease process. |
| distribution |
[
{
"@type": "dcat:Distribution",
"title": "Official Government Data Source",
"mediaType": "text/html",
"description": "Visit the original government dataset for complete information, documentation, and data access.",
"downloadURL": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC128927/"
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|
| identifier | https://healthdata.gov/api/views/vkw7-6cuj |
| issued | 2025-07-14 |
| keyword |
[
"connective-tissue-disease",
"fibrosis-research",
"genetic-predisposition",
"nih",
"systemic-sclerosis"
]
|
| landingPage | https://healthdata.gov/d/vkw7-6cuj |
| modified | 2025-09-06 |
| programCode |
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"009:034"
]
|
| publisher |
{
"name": "National Institutes of Health",
"@type": "org:Organization"
}
|
| theme |
[
"NIH"
]
|
| title | Genetic epidemiology: Systemic sclerosis |
