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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
We hypothesized that genetic variability in the enzymes/proteins involved in drug metabolism, inflammation, and immune function is a major underlying contributor to mucositis incidence and progression and that, based on this variability we can identify variants that influence risk, and develop a mucositis progression prediction model that improves on existing models by incorporating genetic variability along with clinical factors. Using genome wide association study (GWAS) combined with a pathway candidate gene approach and a modified case-control study method, we investigated the hypothesis in a sample of 1092 patients who received a myeloablative dose of melphalan (MEL) followed by autologous hematopoietic stem cell (ASCT) transplantation as treatment for multiple myeloma and for whom banked blood stem cell samples and clinical data were available.
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 764
- Subject Sample Telemetry Report (SSTR)
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- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Inclusion criteria: Patients with newly diagnosed multiple myeloma who underwent their initial MEL-ASCT between 1990 and April 2009
Cases were patients who developed grade 2-4 mucositis and controls were patients who developed grade 0-1 mucositis using Common Toxicity Criteria (CTCAE) version 4.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Genome Genotyping Illumina HumanOmni1-Quad_v1-0_B 1051295 1049033 - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Multiple Myeloma
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- Study Attribution
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Principal Investigator
- E. Ann Coleman. University of Arkansas for Medical Sciences Little Rock, Arkansas, USA.
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Funding Source
- 1RC2NR011945. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator