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Lack of an association between the TGFBR1*6A variant and colorectal cancer risk
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2007 (English)In: Clinical Cancer Research, ISSN 1078-0432, E-ISSN 1557-3265, Vol. 13, no 12, 3748-3752 p.Article in journal (Refereed) Published
Abstract [en]

Purpose: Recently a common variant of the TGFBR1 gene, TGFBR1*6A, has been proposed to act as a low-penetrance tumor susceptibility allele for colorectal cancer, but data from published studies with individually low statistical power are conflicting. To further evaluate the relationship between TGFBR1*6A and colorectal cancer risk, we have conducted a large case-control study and a meta-analysis of previously published studies.

Experimental Design: A total of 1,042 colorectal cancer cases and 856 population controls were genotyped for the TGFBR1*6A polymorphism. Previously published case-control studies of the relationship between TGFBR1*6A and colorectal cancer were identified, and a meta-analysis was conducted.

Results: We found no evidence that homozygosity, heterozygosity or carrier status for the TGFBR1*6A allele confers an increased risk of colorectal cancer; respective odds ratios (OR) were 1.05 [95% confidence interval (95% CI), 0.83-1.32], 0.82 (95% CI, 0.34-1.99), and 0.92 (95% CI, 0.74-1.15), respectively. A meta-analysis of our case-control study and seven other studies that provided data on 2,627 colorectal cancer cases and 3,387 controls also yielded no evidence that possession of the TGFBR1*6A allele is associated with an elevated risk of colorectal cancer; pooled estimate of the OR were 1.20 (95% CI, 0.64-2.24) for homozygosity, 1.11 (95% CI, 0.96-1.29) for heterozygosity, and 1.13 (95% CI, 0.98-1.30) for carriers of TGFBR1*6A.

Conclusion: Current data provide limited support for the hypothesis that sequence variation in TGFBR1 defined by the TGFBR1*6A allele confers an elevated risk of colorectal cancer.

Place, publisher, year, edition, pages
2007. Vol. 13, no 12, 3748-3752 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-11837DOI: 10.1158/1078-0432.CCR-06-2865ISI: 000247336200041PubMedID: 17575241OAI: oai:DiVA.org:uu-11837DiVA: diva2:39606
Available from: 2008-05-29 Created: 2008-05-29 Last updated: 2011-01-31Bibliographically approved

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Påhlman, LarsSmedh, Kennet
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Colorectal SurgeryCentre for Clinical Research, County of Västmanland
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