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Primary Sclerosing Cholangitis (PSC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PSC.
This study is being done to investigate whether genes make people more likely to develop PSC. Discovery of these genes will help us to better understand how PSC developes and subsequently, to apply new approaches for its prevention, diagnosis and treatment.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic Analysis | Genetic | Perform Genome Wide Association Studies. |
| Measure | Description | Time Frame |
|---|---|---|
| Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver Diseases | Adult chronic cholestatic liver diseases, such as Primary Sclerosing Cholangitis (PSC), are progressive liver disorders of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PSC. This study is being done to investigate whether genes (the inherited genetic material passed from parents to their children) make people more likely to develop PSC. Discovery of these proposed genes will help us to better understand how PSC progresses, |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects who are patients at Mayo Clinic and are seen in the department of Gastroenterology and Hepatology are recruited by mail and carry a diagnosis of Primary Sclerosing Cholangitis (PSC). Subjects who are not Mayo Clinic patients are encouraged to contact the study coordinator by phone or email to request enrollment.
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| Name | Affiliation | Role |
|---|---|---|
| Konstantinos N Lazaridis, M.D. | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic | Rochester | Minnesota | 55901 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 21134112 | Result | Juran BD, Atkinson EJ, Schlicht EM, Larson JJ, Ellinghaus D, Franke A, Lazaridis KN. Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis. Liver Int. 2011 Jul;31(6):785-91. doi: 10.1111/j.1478-3231.2010.02420.x. Epub 2010 Dec 7. |
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| ID | Term |
|---|---|
| D015209 | Cholangitis, Sclerosing |
| ID | Term |
|---|---|
| D002761 | Cholangitis |
| D001649 | Bile Duct Diseases |
| D001660 | Biliary Tract Diseases |
| D004066 | Digestive System Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Blood sample will be drawn at local facility and sent to Mayo Clinic by mail. Stool sample will be collected and sent back to Mayo Clinic by mail. All study related charges will be charged to the study.
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |