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Comprehensive assessment of variation at the transforming growth factor β type 1 receptor locus and colorectal cancer predisposition

Overview of attention for article published in Proceedings of the National Academy of Sciences of the United States of America, April 2010
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Title
Comprehensive assessment of variation at the transforming growth factor β type 1 receptor locus and colorectal cancer predisposition
Published in
Proceedings of the National Academy of Sciences of the United States of America, April 2010
DOI 10.1073/pnas.1002816107
Pubmed ID
Authors

Luis G. Carvajal-Carmona, Mike Churchman, Carolina Bonilla, Axel Walther, Jeremie H. Lefèvre, David Kerr, Malcolm Dunlop, Richard Houlston, Walter F. Bodmer, Ian Tomlinson

Abstract

The role of transforming growth factor beta receptor type 1 (TGFBR1) polymorphisms, particularly a coding CGC insertion (rs11466445, TGFBR1*6A/9A) in exon 1, has been extensively investigated in regard to colorectal cancer (CRC) risk. These investigations have generated conflicting results. More recently, allele-specific expression (ASE) of TGFBR1 mRNA has been suggested as predisposing to CRC, with a relative risk of nearly 10-fold and a population attributable risk of approximately 10%. Owing to the potential importance of TGFBR1 variants in CRC, we performed a comprehensive examination of tagging SNPs at and around the gene in 3,101 CRC cases and 3,334 controls of northern European ancestry. To test whether rare or subpolymorphic TGFBR1 variants were associated with CRC risk, we sequenced the gene's exons in a subset of patients. We also evaluated TGFBR1 ASE in a panel of CRC cases and controls. Overall, we found no association between TGFBR1 polymorphisms and CRC risk. The rare variant screen did not identify any changes of potentially pathogenic effects. No evidence of greater ASE in cases than controls was detected, and no haplotype around TGFBR1 could account for the ASE reported in other studies. We conclude that neither genetic variation nor ASE at TGFBR1 is likely to be a major CRC risk factor.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Portugal 1 3%
Unknown 30 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 41%
Student > Master 3 9%
Professor > Associate Professor 2 6%
Professor 2 6%
Student > Doctoral Student 1 3%
Other 5 16%
Unknown 6 19%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 25%
Medicine and Dentistry 8 25%
Biochemistry, Genetics and Molecular Biology 4 13%
Computer Science 2 6%
Nursing and Health Professions 1 3%
Other 1 3%
Unknown 8 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 May 2012.
All research outputs
#22,067,759
of 24,625,114 outputs
Outputs from Proceedings of the National Academy of Sciences of the United States of America
#99,419
of 101,438 outputs
Outputs of similar age
#94,776
of 99,130 outputs
Outputs of similar age from Proceedings of the National Academy of Sciences of the United States of America
#771
of 787 outputs
Altmetric has tracked 24,625,114 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 101,438 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 38.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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