Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

NCT01161953 | Completed DMC

• 1 other identifier: 670-02 PBC
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief Summary

Primary Biliary Cirrhosis (PBC) 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 PBC. This study is being done to investigate whether genes make people more likely to develop PBC. Discovery of these proposed genes will help us better understand how PBC developes, and subsequently, to apply new approaches for its prevention, diagnosis and treatment.

Conditions

Primary Biliary Cirrhosis

Keywords

Primary Biliary Cirrhosis; PBC; Cholestatic Liver Disease

Outcome Measures

Primary Outcomes (1)

• Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver Diseases

  Adult chronic cholestatic liver diseases, such as Primary Biliary Cirrhosis (PBC), 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 PBC. 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 PBC. Discovery of these proposed genes will help us to better understand how PBC progresses, and subsequently, to apply new approaches for its prevention, diagnosis and treatment.

Interventions

Genetic Analysis GENETIC

Perform Genome Wide Association Studies.

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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 PBC. Subjects who are not Mayo Clinic patients are encouraged to contact the study coordinator by phone or email to request enrollment.

You may qualify if:

• Men and women between the ages of 18-90 who have a history of PBC.
• PBC patients who have undergone a liver transplant are eligible.
• Family members (1st degree relatives) of enrolled PBC patients are eligible.

You may not qualify if:

• Individuals with no history of PBC or those unable to provide consent.

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55901, United States

Location

Related Publications (8)

• Lazaridis KN, Juran BD, Boe GM, Slusser JP, de Andrade M, Homburger HA, Ghosh K, Dickson ER, Lindor KD, Petersen GM. Increased prevalence of antimitochondrial antibodies in first-degree relatives of patients with primary biliary cirrhosis. Hepatology. 2007 Sep;46(3):785-92. doi: 10.1002/hep.21749.

  PMID: 17680647 BACKGROUND

• Juran BD, Atkinson EJ, Larson JJ, Schlicht EM, Liu X, Heathcote EJ, Hirschfield GM, Siminovitch KA, Lazaridis KN. Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T-lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: evidence for a gene-gene interaction. Hepatology. 2010 Jul;52(1):223-9. doi: 10.1002/hep.23667.

  PMID: 20578265 BACKGROUND

• Juran BD, Atkinson EJ, Larson JJ, Schlicht EM, Lazaridis KN. Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis. Am J Gastroenterol. 2009 Jun;104(6):1406-11. doi: 10.1038/ajg.2009.103. Epub 2009 Apr 21.

  PMID: 19491853 BACKGROUND

• Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Petersen GM, Lazaridis KN. Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis. Hepatology. 2008 Feb;47(2):563-70. doi: 10.1002/hep.22048.

  PMID: 18041714 BACKGROUND

• Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Lazaridis KN. Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. Gastroenterology. 2008 Oct;135(4):1200-6. doi: 10.1053/j.gastro.2008.06.077. Epub 2008 Jul 1.

  PMID: 18778710 BACKGROUND

• Lammert C, Nguyen DL, Juran BD, Schlicht E, Larson JJ, Atkinson EJ, Lazaridis KN. Questionnaire based assessment of risk factors for primary biliary cirrhosis. Dig Liver Dis. 2013 Jul;45(7):589-94. doi: 10.1016/j.dld.2013.01.028. Epub 2013 Mar 11.

  PMID: 23490343 BACKGROUND

• Lammert C, Juran BD, Schlicht E, Chan LL, Atkinson EJ, de Andrade M, Lazaridis KN. Biochemical response to ursodeoxycholic acid predicts survival in a North American cohort of primary biliary cirrhosis patients. J Gastroenterol. 2014 Oct;49(10):1414-20. doi: 10.1007/s00535-013-0903-1. Epub 2013 Dec 8.

  PMID: 24317935 BACKGROUND

• Lammert C, Juran BD, Schlicht E, Xie X, Atkinson EJ, de Andrade M, Lazaridis KN. Reduced coffee consumption among individuals with primary sclerosing cholangitis but not primary biliary cirrhosis. Clin Gastroenterol Hepatol. 2014 Sep;12(9):1562-8. doi: 10.1016/j.cgh.2013.12.036. Epub 2014 Jan 16.

  PMID: 24440215 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood and stool samples are collected.

MeSH Terms

Conditions

Liver Cirrhosis, Biliary

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Cholestasis, Intrahepatic; Cholestasis; Bile Duct Diseases; Biliary Tract Diseases; Digestive System Diseases; Liver Diseases; Liver Cirrhosis; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Konstantinos N Lazaridis, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Hepatology Consultant

Study Record Dates

• First Submitted: July 12, 2010
• First Posted: July 14, 2010
• Study Start: March 1, 2002
• Primary Completion: July 31, 2025
• Study Completion: July 31, 2025
• Last Updated: September 29, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)