ID
45022
Beschrijving
Principal Investigator: Merrill Eric Gershwin, MD, University California Davis, Davis, CA, USA MeSH: Liver Cirrhosis, Biliary https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000444 A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and identified novel associations with IKZF3/ORMDL3 on chromosome 17, SPIB on chromosome 19, and IRF5 on chromosome. These studies also provided definition of haplotypic associations, differences between the PBC associated chromosome 17 haplotype and that of pediatric asthma and suggested several other genes as candidates for PBC susceptibility including DENND1B.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000444
Trefwoorden
Versies (2)
- 17-07-22 17-07-22 - Chiara Middel
- 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten
Merrill Eric Gershwin, MD, University California Davis, Davis, CA, USA
Geüploaded op
17 juli 2022
DOI
Voor een aanvraag inloggen.
Licentie
Creative Commons BY 4.0
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dbGaP phs000444 Italian PBC Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source ID, and affection status of Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
- Sample ID, subject ID, sample source ID, and sample use variables obtained from Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
- Subject ID, place of subject birth, gender, use of anti-mitochondrial antibody, disease onset age, history of liver cirrhosis, and affection status of Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source ID, and affection status of Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
- Sample ID, subject ID, sample source ID, and sample use variables obtained from Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
- Subject ID, place of subject birth, gender, use of anti-mitochondrial antibody, disease onset age, history of liver cirrhosis, and affection status of Italian participants with or without primary biliary cirrhosis and involved in the "Italian Primary Biliary Cirrhosis Study" project.
C0680251 (UMLS CUI [1,2])
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C0337810 (UMLS CUI [4,1])
C0870134 (UMLS CUI [4,2])
C0429865 (UMLS CUI [4,3])