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Reprimo 824 G>C and p53R2 4696 C>G single nucleotide polymorphisms and colorectal cancer: a case–control disease association study

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Abstract

Background

Improved survival from colorectal cancer (CRC) may result from screening for inherited genetic risk factors. Reprimo and p53R2 are p53-inducible genes involved in cell cycle surveillance and DNA repair. Single nucleotide polymorphisms (SNPs) of these genes have been discovered, but their effects on the genes' function and association with CRC is not known.

Methods

Ninety healthy controls, 52 diverticular disease controls and 96 CRC cases were genotyped. DNA was extracted from buccal brush biopsies. Genotyping was performed by polymerase chain reaction (PCR) or polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) methods. Tests for Hardy–Weinberg equilibrium and allelic- and genotype-disease association were performed online using the Finetti program.

Results

All three populations were in Hardy–Weinberg equilibrium with respect to p53R2 4696C>G SNP, and no CRC associations were demonstrated with this SNP. The healthy and CRC populations were in Hardy–Weinberg equilibrium with respect to the Reprimo 824G>C SNP, but the diverticular disease population was not (P = 0.03). No CRC were demonstrated with Reprimo 824G>C.

Conclusion

No association between p53R2 4696C>G and Reprimo 824G>C with CRC was shown by this study. An association between the Reprimo 824G>C heterozygote and diverticular disease may exist on the basis of deviation from Hardy–Weinberg equilibrium.

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Acknowledgements

We would like to thank Prof. David Skibinski for statistical advice and Dianne Elwell for technical assistance.

Competing interests

The authors declare that there are no competing interests.

Authors' contributions

WB, JB, GJ and JP conceived and designed the study and collected tissue samples. WB performed DNA extraction, genotyping, statistical analysis and drafted the manuscript. GJ and JP helped draft the manuscript. All authors read and approved the final manuscript.

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Authors and Affiliations

  1. Department of Colorectal Surgery, Singleton Hospital, Swansea NHS Trust Sketty, Swansea, SA2 8QA, Wales, UK

    William D. Beasley & John Beynon

  2. Centre for Molecular Genetics and Toxicology, School of Biological Sciences, University of Wales Swansea, Singleton Park, Swansea, SA2 8PP, Wales, UK

    William D. Beasley, Gareth J. S. Jenkins & Jim M. Parry

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  1. William D. Beasley
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  2. John Beynon
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Correspondence to William D. Beasley.

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Beasley, W.D., Beynon, J., Jenkins, G.J.S. et al. Reprimo 824 G>C and p53R2 4696 C>G single nucleotide polymorphisms and colorectal cancer: a case–control disease association study. Int J Colorectal Dis 23, 375–381 (2008). https://doi.org/10.1007/s00384-007-0435-3

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  • DOI: https://doi.org/10.1007/s00384-007-0435-3

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