Tohoku J. Exp. Med., 2020 February, 250(2)
CD44 Genotypes Are Associated with Susceptibility and Tumor Characteristics in Colorectal Cancer Patients
ROSA MARÍA MÁRQUEZ-GONZÁLEZ,1 ANILÚ MARGARITA SAUCEDO-SARIÑANA,1 PATRICIO BARROS-NÚÑEZ,2 MARTHA PATRICIA GALLEGOS-ARREOLA,3 TOMÁS DANIEL PINEDA-RAZO,4 MARÍA EUGENIA MARIN-CONTRERAS,5 SILVIA ESPERANZA FLORES-MARTÍNEZ,1 JOSÉ SÁNCHEZ-CORONA1 and MÓNICA ALEJANDRA ROSALES-REYNOSO1
1Molecular Medicine Division, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico
2Research Unit of Metabolic Diseases, Pediatric UMAE, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico
3Genetic Division, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico
4Medical Oncology Service, Specialty Hospital, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico
5Gastroenterology Service, Specialty Hospital, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico
Colorectal cancer is the third cause of cancer and the second leading cause of death worldwide. The CD44 gene plays a key role in malignant processes, including growth, survival, epithelial to mesenchymal transition and metastasis. It is also known that some variants as rs187116 (c.67+4883G>A) and rs7116432 (c.2024+779A>G) can modulate the function of the CD44 gene and malignant transformation in several neoplasms. This study aims to explore, for the first time, the association of the CD44 rs187116 and rs7116432 variants in patients with colorectal cancer. Genomic DNA from 250 patients and 250 healthy blood donors were analyzed. The identification of variants was made by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Association was calculated by the odds ratio (OR) test and multivariate analysis. Individuals carrying the G/A and A/A genotypes for the rs187116 polymorphism showed an increased risk for colorectal cancer (OR = 3.11, 95% CI: 1.87-5.16, P = 0.001 and OR = 3.59, 95% CI: 2.06-6.25, P = 0.001, respectively). After adjusting for age and gender, these same genotypes and the G/G genotype of the rs7116432 polymorphism were associated with TNM stage and tumor location in the colon. Moreover, the A-G (rs187116 and rs7116432) haplotype was associated with increased risk; while, the haplotype G-A (rs187116 and rs7116432) was related with decreased risk. In conclusion, our results suggest that the here analyzed CD44 variants are involved with risk, TNM stage and tumor location in colorectal cancer.
Keywords —— colorectal cancer; CD44; haplotypes; polymorphisms; susceptibility
© 2020 Tohoku University Medical Press
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Tohoku J. Exp. Med., 2020, 250, 109-119
Correspondence: Mónica Alejandra Rosales-Reynoso, Ph.D., División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Sierra Mojada # 800, Colonia Independencia, Guadalajara, Jalisco CP 44340, México.
e-mail: mareynoso77@yahoo.com.mx or monica.rosales@imss.gob.mx