RT Journal Article
T1 Evidence for PTGER4, PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level.
A1 Heinrichs, Sophie K M
A1 Hess, Timo
A1 Becker, Jessica
A1 Hamann, Lutz
A1 Vashist, Yogesh K
A1 Butterbach, Katja
A1 Schmidt, Thomas
A1 Alakus, Hakan
A1 Krasniuk, Iurii
A1 Höblinger, Aksana
A1 Lingohr, Philipp
A1 Ludwig, Monika
A1 Hagel, Alexander F
A1 Schildberg, Claus W
A1 Veits, Lothar
A1 Gyvyte, Ugne
A1 Weise, Katharina
A1 Schüller, Vitalia
A1 Böhmer, Anne C
A1 Schröder, Julia
A1 Gehlen, Jan
A1 Kreuser, Nicole
A1 Hofer, Sebastian
A1 Lang, Hauke
A1 Lordick, Florian
A1 Malfertheiner, Peter
A1 Moehler, Markus
A1 Pech, Oliver
A1 Vassos, Nikolaos
A1 Rodermann, Ernst
A1 Izbicki, Jakob R
A1 Kruschewski, Martin
A1 Ott, Katja
A1 Schumann, Ralf R
A1 Vieth, Michael
A1 Mangold, Elisabeth
A1 Gasenko, Evita
A1 Kupcinskas, Limas
A1 Brenner, Hermann
A1 Grimminger, Peter
A1 Bujanda, Luis
A1 Sopeña, Federico
A1 Espinel, Jesús
A1 Thomson, Concha
A1 Pérez-Aísa, Ángeles
A1 Campo, Rafael
A1 Geijo, Fernando
A1 Collette, Daniela
A1 Bruns, Christiane
A1 Messerle, Katharina
A1 Gockel, Ines
A1 Nöthen, Markus M
A1 Lippert, Hans
A1 Ridwelski, Karsten
A1 Lanas, Angel
A1 Keller, Gisela
A1 Knapp, Michael
A1 Leja, Marcis
A1 Kupcinskas, Juozas
A1 García-González, Maria A
A1 Venerito, Marino
A1 Schumacher, Johannes
K1 eQTL study
K1 gene expression
K1 genetic association study
K1 stomach neoplasms
AB Genetic associations between variants on chromosome 5p13 and 8q24 and gastric cancer (GC) have been previously reported in the Asian population. We aimed to replicate these findings and to characterize the associations at the genome and transcriptome level. We performed a fine-mapping association study in 1926 GC patients and 2012 controls of European descent using high dense SNP marker sets on both chromosomal regions. Next, we performed expression quantitative trait locus (eQTL) analyses using gastric transcriptome data from 143 individuals focusing on the GC associated variants. On chromosome 5p13 the strongest association was observed at rs6872282 (P = 2.53 × 10-04 ) and on chromosome 8q24 at rs2585176 (P = 1.09 × 10-09 ). On chromosome 5p13 we found cis-eQTL effects with an upregulation of PTGER4 expression in GC risk allele carrier (P = 9.27 × 10-11 ). On chromosome 8q24 we observed cis-eQTL effects with an upregulation of PSCA expression in GC risk allele carrier (P = 2.17 × 10-47 ). In addition, we found trans-eQTL effects for the same variants on 8q24 with a downregulation of MBOAT7 expression in GC risk allele carrier (P = 3.11 × 10-09 ). In summary, we confirmed and refined the previously reported GC associations at both chromosomal regions. Our data point to shared etiological factors between Asians and Europeans. Furthermore, our data imply an upregulated expression of PTGER4 and PSCA as well as a downregulated expression of MBOAT7 in gastric tissue as risk-conferring GC pathomechanisms.
YR 2018
FD 2018-09-06
LK https://hdl.handle.net/10668/26638
UL https://hdl.handle.net/10668/26638
LA en
DS RISalud
RD Apr 8, 2025