Journal Article

DKFZ-2018-01450

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Evidence for PTGER4, PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level.

Heinrichs, S. K. M. ; Hess, T. ; Becker, J. ; Hamann, L. ; Vashist, Y. K. ; Butterbach, K.DKFZ* ; Schmidt, T. ; Alakus, H. ; Krasniuk, I. ; Höblinger, A. ; Lingohr, P. ; Ludwig, M. ; Hagel, A. F. ; Schildberg, C. W. ; Veits, L. ; Gyvyte, U. ; Weise, K. ; Schüller, V. ; Böhmer, A. C. ; Schröder, J. ; Gehlen, J. ; Kreuser, N. ; Hofer, S. ; Lang, H. ; Lordick, F. ; Malfertheiner, P. ; Moehler, M. ; Pech, O. ; Vassos, N. ; Rodermann, E. ; Izbicki, J. R. ; Kruschewski, M. ; Ott, K. ; Schumann, R. R. ; Vieth, M. ; Mangold, E. ; Gasenko, E. ; Kupcinskas, L. ; Brenner, H.DKFZ* ; Grimminger, P. ; Bujanda, L. ; Sopeña, F. ; Espinel, J. ; Thomson, C. ; Pérez-Aísa, Á. ; Campo, R. ; Geijo, F. ; Collette, D. ; Bruns, C. ; Messerle, K. ; Gockel, I. ; Nöthen, M. M. ; Lippert, H. ; Ridwelski, K. ; Lanas, A. ; Keller, G. ; Knapp, M. ; Leja, M. ; Kupcinskas, J. ; García-González, M. A. ; Venerito, M. ; Schumacher, J.

2018
Wiley Hoboken, NJ

This record in other databases:  

Please use a persistent id in citations: doi:10.1002/cam4.1719

Abstract: 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.

---

Contributing Institute(s):

1. C070 Klinische Epidemiologie und Alternf. (C070)
2. Präventive Onkologie (G110)
3. DKTK Heidelberg (L101)

Research Program(s):

1. 313 - Cancer risk factors and prevention (POF3-313) (POF3-313)

Appears in the scientific report 2018

---

Database coverage:
; ; ; BIOSIS Previews ; Current Contents - Clinical Medicine ; DOAJ Seal ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

---