Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs

Boris Pasche, Kari B. Wisinski, Maureen Sadim, Virginia Kaklamani, Michael J. Pennison, Qinghua Zeng, Naresh Bellam, Jacquelyn Zimmerman, Nengjun Yi, Kui Zhang, John Baron, Daniel O. Stram, M. Geoffrey Hayes

Research output: Contribution to journalArticle

Abstract

Purpose. Constitutively decreased TGFBR1 allelic expression is emerging as a potent modifier of colorectal cancer risk in mice and humans. This phenotype was first observed in mice, then in lymphoblastoid cell lines from patients with microsatellite stable colorectal tumors. Patients and Methods. We assessed the frequency of constitutively decreased TGFBR1 allelic expression and association with SNPs covering the TGFBR1 locus using RNA and DNA extracted from the peripheral blood lymphocytes of 118 consecutive patients with biopsy-proven adenocarcinoma of the colon or the rectum. Results: We found that 11(9.3%) of 118 patients exhibited decreased TGFBR1 allelic expression (TGFBR1 ASE). TGFBR1 ASE was strongly associated with three SNPs in linkage disequilibrium with each other: rs7034462 (p = 7.2 × 10-4), TGFBR1*6A (p = 1.6 × 10-4) and rs11568785 (p = 1.4 × 10-4). Conclusion: These results confirm the high prevalence of constitutively decreased TGFBR1 allelic expression among patients with colorectal cancer. The association of this phenotype with TGFBR1*6A, rs7034462 and rs1156875 suggests an association between TGFBR1 SNPs and colorectal cancer, which warrants additional studies.

Original languageEnglish (US)
Article number57
JournalJournal of Experimental and Clinical Cancer Research
Volume29
Issue number1
DOIs
StatePublished - Dec 1 2010

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Fingerprint Dive into the research topics of 'Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs'. Together they form a unique fingerprint.

  • Cite this

    Pasche, B., Wisinski, K. B., Sadim, M., Kaklamani, V., Pennison, M. J., Zeng, Q., Bellam, N., Zimmerman, J., Yi, N., Zhang, K., Baron, J., Stram, D. O., & Hayes, M. G. (2010). Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs. Journal of Experimental and Clinical Cancer Research, 29(1), [57]. https://doi.org/10.1186/1756-9966-29-57