APC Yin-Yang haplotype associated with colorectal cancer risk

Garre,P.; de la Hoya,M.; Iniesta,P.; Romera,A.; Llovet,P.; Gonzalez,S.; Perez-Segura,P.; Capella,G.; Diaz-Rubio,E.; Caldes,T.

doi:10.3892/etm.2010.125

September-October 2010 Volume 1 Issue 5

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September-October 2010 Volume 1 Issue 5

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Article

APC Yin-Yang haplotype associated with colorectal cancer risk

Authors:
- P. Garre
- M. de la Hoya
- P. Iniesta
- A. Romera
- P. Llovet
- S. Gonzalez
- P. Perez-Segura
- G. Capella
- E. Diaz-Rubio
- T. Caldes
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Affiliations: Laboratorio de Oncología Molecular, Hospital Universitario San Carlos, Madrid, Spain, Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, UCM, Madrid, Spain, Laboratorio de Investigación Traslacional, Instituto Catalán de Oncología, Barcelona, Spain
Pages: 879-883
|
Published online on: July 21, 2010

https://doi.org/10.3892/etm.2010.125
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Abstract

The Yin-Yang haplotype is defined as two mismatched haplotypes (Yin and Yang) representing the majority of the existing haplotypes in a particular genomic region. The human adenomatous polyposis coli (APC) gene shows a Yin-Yang haplotype pattern accounting for 84% of all of the haplotypes existing in the Spanish population. Several association studies have been published regarding APC gene variants (SNPs and haplotypes) and colorectal cancer (CRC) risk. However, no studies concerning diplotype structure and CRC risk have been conducted. The aim of the present study was to investigate whether the APC Yin-Yang homozygote diplotype is over-represented in patients with sporadic CRC when compared to its distribution in controls, and its association with CRC risk. TaqMan® assays were used to genotype three tagSNPs selected across the APC Yin-Yang region. Frequencies of the APC Yin-Yang tagSNP alleles, haplotype and diplotype of 378 CRC cases and 642 controls were compared. Two Spanish CRC group samples were included [Hospital Clínico San Carlos in Madrid (HCSC) and Instituto Catalán de Oncología in Barcelona (ICO)]. Analysis of 157 consecutive CRC patients and 405 control subjects from HCSC showed a significative effect for the risk of CRC (OR=1.93; 95% CI 1.32‑2.81; P=0.001). However, this effect was not confirmed in 221 CRC patients and 237 control subjects from ICO (OR=0.89; 95% CI 0.61-1.28; P=0.521). We found a significant association between the APC homozygote Yin-Yang diplotype and the risk of colorectal cancer in the HCSC samples. However, we did not observe this association in the ICO samples. These observations suggest that a study with a larger Spanish cohort is necessary to confirm the effects of the APC Yin-Yang diplotype on the risk of CRC.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

APC Yin-Yang haplotype associated with colorectal cancer risk

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