GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12

Carcinogenesis
Chizu TanikawaKoichi Matsuda

Abstract

Colorectal cancer (CRC) is the fourth leading cause of cancer mortality worldwide. Genome-wide association studies (GWAS) identified more than 50 CRC loci. However, most of the previous studies were conducted in European population, and host genetic factors among Japanese population are largely remained to be identified. To identify novel loci in the Japanese population, here, we performed a large-scale GWAS using 6692 cases and 27 178 controls followed by a replication analysis using more than 11 000 case-control samples. We found the significant association of 10 loci (P < 5 × 10-8), including 2 novel loci on 16q24.1 (IRF8-FOXF1, rs847208, P = 3.15 × 10-9 and odds ratio = 1.107 with 95% confidence interval (CI) of 1.071-1.145) and 20q13.12 (TOX2, rs6065668, P = 4.47 × 10-11 and odds ratio = 0.897 with 95% CI of 0.868-0.926). Moreover, 35 previously reported single nucleotide polymorphisms (SNPs) in 24 regions were validated in the Japanese population (P < 0.05) with the same risk allele as in the previous studies. SNP rs6065668 was significantly associated with TOX2 expression in the sigmoid colon. In addition, nucleotide substitutions in the regulatory region of TOX2 were predicted to alter the binding of several transcripti...Continue Reading

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Citations

Mar 31, 2019·International Journal of Cancer. Journal International Du Cancer·Atsushi GotoMotoki Iwasaki
Feb 6, 2020·Nutrients·Aleksandra Czumaj, Tomasz Śledziński
May 16, 2019·Nature Communications·Philip J LawMalcolm G Dunlop
Jan 29, 2020·Scientific Reports·Kensuke SakaiKoichi Matsuda
Mar 10, 2020·The Journal of Clinical Investigation·Joshua N CurryAlan Sl Yu
Nov 16, 2019·Nature Communications·Sarah A HowlesDominic Furniss
Dec 15, 2020·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Masashi FujitaYukihide Momozawa
Feb 9, 2021·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Junyi WangZhiguang Ping
Jan 29, 2021·Cancer Science·Shiori SuzukiMotoki Iwasaki
May 13, 2021·Scientific Reports·Irawan YusufCarissa I Pardamean
Mar 2, 2021·Digestive Diseases·Paulius JonaitisJuozas Kupcinskas

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