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Some germline single nucleotide polymorphisms (SNPs) act as expression quantitative trait loci (eQTLs) showing strong associations with gene expression levels. We performed an association study to test whether eQTLs of genes reported to be associated with prognosis of MM patients are directly associated with measures of adverse outcome. Using the genotype\u2010tissue expression portal, we identified a total of 16 candidate genes with at least one eQTL SNP associated with their expression with <jats:italic>P<\/jats:italic>\u2009&lt;\u200910<jats:sup>\u22127<\/jats:sup> either in EBV\u2010transformed B\u2010lymphocytes or whole blood. We genotyped the resulting 22 SNPs in 1327\u2009MM cases from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and examined their association with overall survival (OS) and progression\u2010free survival (PFS), adjusting for age, sex, country of origin and disease stage. Three polymorphisms in two genes (<jats:italic>TBRG4<\/jats:italic>\u2010rs1992292, <jats:italic>TBRG4<\/jats:italic>\u2010rs2287535 and <jats:italic>ENTPD1<\/jats:italic>\u2010rs2153913) showed associations with OS at <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.05, with the former two also associated with PFS. The associations of two polymorphisms in <jats:italic>TBRG4<\/jats:italic> with OS were replicated in 1277\u2009MM cases from the International Lymphoma Epidemiology (InterLymph) Consortium. A meta\u2010analysis of the data from IMMEnSE and InterLymph (2579 cases) showed that <jats:italic>TBRG4<\/jats:italic>\u2010rs1992292 is associated with OS (hazard ratio\u00a0=\u00a01.14, 95% confidence interval 1.04\u20101.26, <jats:italic>P<\/jats:italic>\u00a0=\u00a0.007). In conclusion, we found biologically a plausible association between a SNP in <jats:italic>TBRG4<\/jats:italic> and OS of MM patients.<\/jats:p>","DOI":"10.1002\/ijc.33547","type":"journal-article","created":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T13:38:21Z","timestamp":1615037901000},"page":"327-336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Expression quantitative trait loci of genes predicting outcome are associated with survival of multiple myeloma patients"],"prefix":"10.1002","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9820-5079","authenticated-orcid":false,"given":"Angelica","family":"Macauda","sequence":"first","affiliation":[{"name":"Genomic Epidemiology Group, German Cancer Research Center (DKFZ)  Heidelberg Germany"},{"name":"Department of Biology University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Piredda","sequence":"additional","affiliation":[{"name":"Department of Biology University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa I.","family":"Clay\u2010Gilmour","sequence":"additional","affiliation":[{"name":"Department of Epidemiology &amp; Biostatistics Arnold School of Public Health, University of South Carolina  Columbia South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9355-2423","authenticated-orcid":false,"given":"Juan","family":"Sainz","sequence":"additional","affiliation":[{"name":"Genomic Oncology Area, GENYO. 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