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.

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

CAMPA, DANIELE;BUDA, GABRIELE;
2015

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.
Ziv, E; Dean, E; Hu, D; Martino, A; Serie, D; Curtin, K; Campa, Daniele; Aftab, B; Bracci, P; Buda, Gabriele; Zhao, Y; Caswell Jin, J; Diasio, R; Dumontet, C; Dudziński, M; Fejerman, L; Greenberg, A; Huntsman, S; Jamroziak, K; Jurczyszyn, A; Kumar, S; Atanackovic, D; Glenn, M; Cannon Albright, La; Jones, B; Lee, A; Marques, H; Martin, T; Martinez Lopez, J; Rajkumar, V; Sainz, J; Vangsted, Aj; Wątek, M; Wolf, J; Slager, S; Camp, Nj; Canzian, F; Vachon, C.
File in questo prodotto:
File Dimensione Formato  
Ziv et al, Nat Comm_2015.pdf

accesso aperto

Descrizione: Testo principale
Tipologia: Versione finale editoriale
Licenza: Creative commons
Dimensione 798.01 kB
Formato Adobe PDF
798.01 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/779501
Citazioni
  • ???jsp.display-item.citation.pmc??? 17
  • Scopus 30
  • ???jsp.display-item.citation.isi??? 29
social impact