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Lack of an Association between the TGFBR1*6A Variant and Colorectal Cancer Risk

Author's Affiliations: ¹ Department of Molecular Medicine and Surgery, Karolinska Institutet; ² Department of Surgery, St. Görans Hospital; ³ Department of Surgery, Karolinska University Hospital, Solna; ⁴ Department of Clinical Science, Division of Surgery, Karolinska Institutet at Danderyd Hospital; ⁵ Centre of Gastrointestinal Disease, Ersta Hospital; ⁶ Department of Medical & Surgical Gastroenterology, Karolinska University Hospital, Huddinge; ⁷ Department of Surgery, South Stockholm General Hospital; ⁸ Department of Pathology, Dalian Medical University, Dalian, China; ⁹ Department of Surgery, Södertälje Hospital, Södertälje, Sweden; ¹⁰ Länssjukhuset Gävle-Sandviken, Gävle, Sweden; ¹¹ Norrtälje Hospital, Norrtälje, Sweden; ¹² Department of Surgery, Uppsala University Hospital, Uppsala, Sweden; ¹³ Department of Surgery, Örebro University Hospital, Örebro, Sweden; ¹⁴ Department of Surgery, Colorectal Unit, Central Hospital, Västerås, Sweden; ¹⁵ Department of Surgery, Central Hospital, Karlstad, Sweden; and ¹⁶ Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom

Requests for reprints: Annika Lindblom, Department of Molecular Medicine and Surgery, Karolinska Institutet, CMM L8:02 S-171 76 Stockholm, Sweden. E-mail: Annika.Lindblom{at}ki.se.

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.

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