An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer

被引：28

作者：

Ryan, Brid M. ^{[1
]}

Wolff, Roger K. ^{[2
]}

Valeri, Nicola ^{[3
]}

Khan, Mohammed ^{[1
]}

Robinson, Dillon ^{[1
]}

Paone, Alessio ^{[4
]}

Bowman, Elise D. ^{[1
]}

Lundgreen, Abbie ^{[2
]}

Caan, Bette ^{[5
]}

Potter, John ^{[6
,7
,8
]}

Brown, Derek ^{[1
]}

Croce, Carlo ^{[4
]}

Slattery, Martha L. ^{[2
]}

Harris, Curtis C. ^{[1
]}

机构：

[1] NCI, Human Carcinogenesis Lab, Ctr Canc Res, Bethesda, MD 20892 USA

[2] Univ Utah, Dept Internal Med, Salt Lake City, UT 84132 USA

[3] Inst Canc Res, Div Mol Pathol, Sutton SM2 5NG, Surrey, England

[4] Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA

[5] Kaiser Permanente Med Res Program, Dept Res, Oakland, CA 94612 USA

[6] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA

[7] Massey Univ, Ctr Publ Hlth Res, Wellington, New Zealand

[8] Univ Washington, Dept Epidemiol, Seattle, WA 98109 USA

来源：

CANCER EPIDEMIOLOGY | 2014年 / 38卷 / 05期

关键词：

Inflammatory bowel disease; Colon cancer; STAT3; GENOME-WIDE ASSOCIATION; MOLECULAR PATHOLOGICAL EPIDEMIOLOGY; CROHNS-DISEASE; ULCERATIVE-COLITIS; COLORECTAL-CANCER; SUSCEPTIBILITY LOCI; ESCHERICHIA-COLI; CORRELATED RESPONSES; STAT3; POLYMORPHISMS; ILEAL MUCOSA;

D O I：

10.1016/j.canep.2014.07.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background and aims: Patients with inflammatory bowel disease (IBD) have a higher risk of developing colorectal cancer than the general population. Genome-wide association studies have identified and replicated several loci associated with risk of IBD; however, it is currently unknown whether these loci are also associated with colon cancer risk. Methods: We selected 15 validated SNPs associated with risk of either Crohn's disease, ulcerative colitis, or both in previous GWAS and tested whether these loci were also associated with colon cancer risk in a two-stage study design. Results: We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the direction of the observation was reversed in TP53 mutant tumors possibly due to a nullification of the effect by mutant p53. The SNP, which lies within intron 1 of the STAT3 gene, was associated with lower expression of STAT3 mRNA in TP53 wild-type, but not mutant, tumors. Conclusions: These data suggest that the STAT3 locus is associated with both IBD and cancer. Further understanding the function of this variant in relation to TP53 could possibly explain the role of this gene in autoimmunity and cancer. Furthermore, an analysis of this locus, specifically in a population with IBD, could help to resolve the relationship between this SNP and cancer. Published by Elsevier Ltd.

引用

页码：583 / 590

页数：8

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