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Study Description

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.

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Publicly Available Data
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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
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanOmni1-Quad_v1-0_B 1051295 1049033
Selected Publications
Diseases/Traits Related to Study (MeSH terms)
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Study Attribution
  • Principal Investigator
    • E. Ann Coleman. University of Arkansas for Medical Sciences Little Rock, Arkansas, USA.
  • Funding Source
    • 1RC2NR011945. National Institutes of Health, Bethesda, MD, USA.