Colorectal cancer susceptibility: apparent gender-related modulation by ABCB1 gene polymorphisms

Journal of Biomedical Science

Rossella Solmi¹  Isacco Montroni²  Giampaolo Ugolini²  Maria Teresa Rodia¹  Francesca Cura¹  Luca Scapoli¹  Marcella Martinelli¹ 

[1] Centre of Molecular Genetics, ¿CARISBO Foundation¿, University of Bologna, Bologna, Italy;Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy

关键词: Association analysis;    Polymorphism;    ABCB1 gene;    Colorectal cancer;   

Others  :  1146511
DOI  :  10.1186/s12929-014-0089-8

 received in 2014-05-23, accepted in 2014-08-22,  发布年份 2014

【 摘 要 】

Background

The ATP-binding cassette transporter B1 (ABCB1) gene codes for a membrane efflux pump localized in epithelial cells. Together with other Permeability-glycoproteins in the small and large intestine, its product represents a barrier against xenobiotics, bacterial toxins, drugs and other substances introduced with diet, including carcinogens. The aim of this investigation was to verify the possible contribution of ABCB1 single nucleotide polymorphisms (SNPs) to the genetic risk of colorectal cancer (CRC).

Results

DNA obtained from the peripheral blood of 98 CRC patients and 100 healthy controls was genotyped for the three selected SNPs: 1236C > T (rs1128503), 2677G > T/A (rs2032582), and 3435C > T (rs1045642). Molecular data were analyzed to asses allele and haplotype association with CRC.

No evidence of an association between ABCB1 alleles and CRC occurrence as a whole was found. However, ABCB1 showed either association with carcinoma of the sigmoid colon, and appeared able to influence the sex ratio among CRC patients. These two effects seemed to act independently based on multivariate analysis. We showed that ABCB1 polymorphisms were able to influence CRC susceptibility related to tumor localization and patient gender.

Conclusions

We suggest that sensitivity to undetermined risk factors could depend on the genetic background of ABCB1 locus, with a mechanism that also depends on patient gender.

【 授权许可】

   
2014 Martinelli et al.; licensee BioMed Central Ltd.

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