E-MTAB-2299 - Deciphering myeloma risk loci by eQTL analysis
Last updated on 9 December 2014, released on 9 December 2014
Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) at 7 loci influencing multiple myeloma (MM) risk. We generated expression quantitative trait loci (eQTL) data on malignant plasma cells from two patient series (totaling 848) to fine map the risk loci associations and gain insight into their functional basis. At 7p11.2 the strongest association with MM risk is provided by rs4487645, which is associated with allele–specific cis-regulation of the MYC-interacting gene CDCA7L (P=4.1x10-25). These data are compatible with increased expression of CDCA7L being the functional basis of the 7p11.2 association exerting its effects through an extended pathway involving IRF4 and MYC. Note: This dataset re-uses files from ArrayExpress accessions E-TABM-937, E-MTAB-362, E-MTAB-372.
transcription profiling by array, co-expression, disease state, in vitro
The 7p15.3 (rs4487645) association for multiple myeloma shows strong allele-specific regulation of the MYC-interacting gene CDCA7L in malignant plasma cells. Weinhold N, Meissner T, Johnson DC, Seckinger A, Moreaux J, Försti A, Chen B, Nickel J, Chubb D, Rawstron AC, Doughty C, Dahir NB, Begum DB, Young K, Walker BA, Hoffmann P, Nöthen MM, Davies FE, Klein B, Goldschmidt H, Morgan GJ, Houlston RS, Hose D, Hemminki K. :e110-3 (2015), PMID:25480495
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