Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. / Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auer, Paul L.; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barrowdale, Daniel; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Białkowska, Katarzyna; Blanco, Ana; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A.; Campbell, Ian; Canisius, Sander; Christiansen, Hans; Ejlertsen, Bent; Flyger, Henrik; Nielsen, Finn C.; Wang, Qin; ABCTB Investigators; HEBON Investigators; BCFR Investigators; OCGN Investigators; GEMO Study Collaborators; EMBRACE Collaborators; GC-HBOC Study Collaborators.
In: Genetic Epidemiology, Vol. 44, No. 5, 2020, p. 442-468.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
AU - Feng, Helian
AU - Gusev, Alexander
AU - Pasaniuc, Bogdan
AU - Wu, Lang
AU - Long, Jirong
AU - Abu-full, Zomoroda
AU - Aittomäki, Kristiina
AU - Andrulis, Irene L.
AU - Anton-Culver, Hoda
AU - Antoniou, Antonis C.
AU - Arason, Adalgeir
AU - Arndt, Volker
AU - Aronson, Kristan J.
AU - Arun, Banu K.
AU - Asseryanis, Ella
AU - Auer, Paul L.
AU - Azzollini, Jacopo
AU - Balmaña, Judith
AU - Barkardottir, Rosa B.
AU - Barnes, Daniel R.
AU - Barrowdale, Daniel
AU - Beckmann, Matthias W.
AU - Behrens, Sabine
AU - Benitez, Javier
AU - Bermisheva, Marina
AU - Białkowska, Katarzyna
AU - Blanco, Ana
AU - Blomqvist, Carl
AU - Boeckx, Bram
AU - Bogdanova, Natalia V.
AU - Bojesen, Stig E.
AU - Bolla, Manjeet K.
AU - Bonanni, Bernardo
AU - Borg, Ake
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Briceno, Ignacio
AU - Broeks, Annegien
AU - Brüning, Thomas
AU - Burwinkel, Barbara
AU - Cai, Qiuyin
AU - Caldés, Trinidad
AU - Caligo, Maria A.
AU - Campbell, Ian
AU - Canisius, Sander
AU - Christiansen, Hans
AU - Ejlertsen, Bent
AU - Flyger, Henrik
AU - Nielsen, Finn C.
AU - Wang, Qin
AU - ABCTB Investigators
AU - HEBON Investigators
AU - BCFR Investigators
AU - OCGN Investigators
AU - GEMO Study Collaborators
AU - EMBRACE Collaborators
AU - GC-HBOC Study Collaborators
PY - 2020
Y1 - 2020
N2 - Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer.
AB - Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer.
KW - breast cancer subtype
KW - causal gene
KW - GWAS
KW - TWAS
U2 - 10.1002/gepi.22288
DO - 10.1002/gepi.22288
M3 - Journal article
C2 - 32115800
AN - SCOPUS:85081379482
VL - 44
SP - 442
EP - 468
JO - Genetic Epidemiology
JF - Genetic Epidemiology
SN - 0741-0395
IS - 5
ER -
ID: 253400713