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Genome-wide association study identifies variants at 16p13 associated with survival in multiple myeloma patients. | LitMetric

AI Article Synopsis

  • This study is the first genome-wide association study (GWAS) focused on survival in multiple myeloma (MM), analyzing data from 545 patients across two major clinics.
  • A specific SNP near the FOPNL gene on chromosome 16p13 was found to have a strong link to patient survival, indicating those with the minor allele face a higher risk of mortality.
  • Further analysis confirmed this association in additional patient cohorts and revealed that the minor allele corresponds to increased FOPNL expression, which correlates with shorter survival outcomes.

Article Abstract

Here we perform the first genome-wide association study (GWAS) of multiple myeloma (MM) survival. In a meta-analysis of 306 MM patients treated at UCSF and 239 patients treated at the Mayo clinic, we find a significant association between SNPs near the gene FOPNL on chromosome 16p13 and survival (rs72773978; P=6 × 10(-10)). Patients with the minor allele are at increased risk for mortality (HR: 2.65; 95% CI: 1.94-3.58) relative to patients homozygous for the major allele. We replicate the association in the IMMEnSE cohort including 772 patients, and a University of Utah cohort including 318 patients (rs72773978 P=0.044). Using publicly available data, we find that the minor allele was associated with increased expression of FOPNL and increased expression of FOPNL was associated with higher expression of centrosomal genes and with shorter survival. Polymorphisms at the FOPNL locus are associated with survival among MM patients.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4656791PMC
http://dx.doi.org/10.1038/ncomms8539DOI Listing

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