APC Yin-Yang haplotype associated with colorectal cancer risk

作者：Garre P; De la Hoya M; Iniesta P; Romera A; Llovet P; Gonzalez S; Perez Segura P; Capella G; Diaz Rubio E; Caldes T^*

来源：Experimental and Therapeutic Medicine, 2010, 1(5): 879-883.

DOI：10.3892/etm.2010.125

• Yin-Yang haplotype human adenomatous polyposis coli gene
• colorectal cancer
• stable microsatellite

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 (R) assays were used to genotype three tagSNPs selected across the A PC 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 Clinico San Carlos in Madrid (HCSC) and Institut Catalan de Oncologia 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% Cl 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 A PC Yin-Yang diplotype on the risk of CRC.

• 出版日期2010-10