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Deciphering myeloma risk loci by eQTL analysis

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

SUBMITTER: Tobias Meissner

PROVIDER: E-MTAB-2299 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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