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Sökning: WFRF:(Houlston Richard S) > (2007-2009)

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  • Shete, Sanjay, et al. (författare)
  • Genome-wide association study identifies five susceptibility loci for glioma.
  • 2009
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 41:8, s. 899-904
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>To identify risk variants for glioma, we conducted a meta-analysis of two genome-wide association studies by genotyping 550K tagging SNPs in a total of 1,878 cases and 3,670 controls, with validation in three additional independent series totaling 2,545 cases and 2,953 controls. We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). These data show that common low-penetrance susceptibility alleles contribute to the risk of developing glioma and provide insight into disease causation of this primary brain tumor.</p>
  • Skoglund, Johanna, et al. (författare)
  • Lack of an association between the TGFBR1*6A variant and colorectal cancer risk
  • 2007
  • Ingår i: Clinical Cancer Research. - 1078-0432 .- 1557-3265. ; 13:12, s. 3748-3752
  • Tidskriftsartikel (refereegranskat)abstract
    • <p><strong>Purpose:</strong> Recently a common variant of the <em>TGFBR1</em> gene, <em>TGFBR1</em>*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 <em>TGFBR1</em>*6A and colorectal cancer risk, we have conducted a large case-control study and a meta-analysis of previously published studies.</p> <p><strong>Experimental Design:</strong> A total of 1,042 colorectal cancer cases and 856 population controls were genotyped for the <em>TGFBR1</em>*6A polymorphism. Previously published case-control studies of the relationship between <em>TGFBR1</em>*6A and colorectal cancer were identified, and a meta-analysis was conducted.</p> <p><strong>Results:</strong> We found no evidence that homozygosity, heterozygosity or carrier status for the <em>TGFBR1</em>*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 <em>TGFBR1</em>*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 <em>TGFBR1</em>*6A.</p> <p><strong>Conclusion:</strong> Current data provide limited support for the hypothesis that sequence variation in <em>TGFBR1</em> defined by the <em>TGFBR1</em>*6A allele confers an elevated risk of colorectal cancer.</p>
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