ID
45622
Descrição
Principal Investigator: Mary V. Relling, PharmD, St. Jude Children's Research Hospital MeSH: Leukemia, Lymphoid,Pancreatitis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001350 A complication of acute lymphoblastic leukemia (ALL) treatment is acute pancreatitis, which is one of the common causes of asparaginase intolerance. To determine clinical and genetic risk factors for pancreatitis, we studied a cohort of children and young adults with ALL enrolled on COG trials (9904/9905/9906, AALL0232) and on St. Jude trial Total XV. We performed a genome-wide association study using germline DNA collected from blood in patients at remission in this cohort of 5185 patients and in an independent case-control group of 213 patients on AALL0331. The frequency of pancreatitis in the cohort was 2.3% (117 of 5185). No common variants reached genome-wide significance, but a rare nonsense variant rs199695765 in CPA2, encoding carboxypeptidase A2, was highly associated with pancreatitis (odds ratio = 587, 95% confidence interval 66.8-5166, P = 9.0 x 10-9). A gene-level analysis showed an excess of additional CPA2 variants in patients who did versus those who did not develop pancreatitis (P = 0.018). Sixteen CPA2 SNPs were associated (P 0.05) with pancreatitis, and 13 of 24 patients who carried at least one of these variants developed pancreatitis. Biological functions that were overrepresented by common variants modestly associated with pancreatitis included purine metabolism and cytoskeleton regulation.
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Versões (1)
- 27/02/2023 27/02/2023 - Simon Heim
Titular dos direitos
Mary V. Relling, PharmD, St. Jude Children's Research Hospital
Transferido a
27 de fevereiro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001350 Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, source subject ID, and sex of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Subject ID and sample ID of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Subject ID, St Jude TOTALXV protocols, with or without pancreatitis, gender, and genotype race of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, and histological type of sample obtained from participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, source subject ID, and sex of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Subject ID and sample ID of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Subject ID, St Jude TOTALXV protocols, with or without pancreatitis, gender, and genotype race of participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, and histological type of sample obtained from participants with or without pancreatitis and involved in the "Pancreatitis after Treatment for Acute Lymphoblastic Leukemia (SJIRB XPD04-123 and XPD05-078)" project.
C0680251 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
C1516879 (UMLS CUI [1,4])
C0008976 (UMLS CUI [1,5])
C0023449 (UMLS CUI [1,6])
C1519168 (UMLS CUI [1,7])
C1516477 (UMLS CUI [1,8])
C0021430 (UMLS CUI [1,9])
C0162791 (UMLS CUI [1,10])
C2986526 (UMLS CUI [1,11])
C0242483 (UMLS CUI [1,12])
C1285573 (UMLS CUI [1,13])