title: Genome-wide association study in breast cancer survivors reveals SNPs associated with gene expression of genes belonging to MHC class I and II.
abstract: BACKGROUND
  We investigated the effect of genetic variation on gene expression in blood from a cohort of BC survivors. Further, we investigated the associations that were specific for BC survivors by performing identical analyses for a group of healthy women and comparing the results.
  
  
  METHODS
  eQTL analysis was performed for 288 BC survivors (full data set). Further, using a subset of the data, eQTL analyses were performed on 288 BC survivors and on 81 healthy women separately and results were compared.
  
  
  RESULTS
  A large number of associations were observed for the BC survivors, and the expression of human leukocyte antigen genes was found associated with SNPs in 100 genes. The comparison analyses with healthy women revealed associations occurring specifically in BC survivors, and the genes showed enrichment for immune system processes.
  
  
  CONCLUSIONS
  The results suggest that the immune system has a different constitution in BC survivors compared to healthy women.
authors.affiliation: Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
authors.forename: Hege
authors.initials: H
authors.lastname: Landmark-Høyvik
authors.forename: Vanessa
authors.initials: V
authors.lastname: Dumeaux
authors.forename: Daniel
authors.initials: D
authors.lastname: Nebdal
authors.forename: Eiliv
authors.initials: E
authors.lastname: Lund
authors.forename: Jörg
authors.initials: J
authors.lastname: Tost
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Kamatani
authors.forename: Victor
authors.initials: V
authors.lastname: Renault
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Børresen-Dale
authors.forename: Vessela
authors.initials: V
authors.lastname: Kristensen
authors.forename: Hege
authors.initials: H
authors.lastname: Edvardsen
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping; D015331:Cohort Studies; D005260:Female; D015870:Gene Expression; D005805:Genes, MHC Class I; D005802:Genes, MHC Class II; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D016014:Linear Models; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017741:Survivors
keywords: BC; Breast cancer; Breast cancer survivors; FDR; Gene expression; HLA; IPA; LD; MHC; Radiotherapy; SNP; Treatment; UTR; breast cancer; chr; chromosome; eQTL; false discovery rate; human leukocyte antigen; ingenuity pathway analysis; linkage disequilibrium; mRNA; major histocompatibility; messenger RNA; single nucleotide polymorphism; untranslated region