ZNF217基因多态性对墨西哥人群结直肠癌发生的影响。

Effect of ZNF217 gene polymorphisms on colorectal cancer development in a Mexican population.

作者信息

Ramírez-Ramírez R, Gutiérrez-Angulo M, Magaña M T, Moreno-Ortiz J M, Partida-Pérez M, Muñiz-Mendoza R, Peregrina-Sandoval J, Suárez-Villanueva A S, Centeno-Flores M, Maciel-Gutiérrez V M, Cabrales-Vazquez E, Ayala-Madrigal M L

机构信息

Instituto de Genética Humana and Doctorado en Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, México.

División de Genética, CIBO, IMSS, Guadalajara, Jalisco, México.

出版信息

Genet Mol Res. 2015 Jan 23;14(1):362-7. doi: 10.4238/2015.January.23.9.

DOI:10.4238/2015.January.23.9

PMID:25729968

Abstract

The ZNF217 gene, a potential oncogene amplified and overexpressed in several cancers including colorectal cancer (CRC), acts as a transcription factor that activates or represses target genes. The polymorphisms rs16998248 (T>A) and rs35720349 (C>T) in coronary artery disease have been associated with reduced expression of ZNF217. In this study, we analyzed the 2 polymorphisms in Mexican patients with CRC. Genotyping of rs16998248 and rs35720349 sites was performed by polymerase chain reaction-restriction fragment length polymorphism in 203 Mexican Mestizos, 101 CRC patients, and 102 healthy blood donors. Although no statistical differences regarding genotype and allele frequencies of ZNF217 polymorphisms were observed (P > 0.05), linkage disequilibrium was significant in CRC patients (r(2) = 0.39, P < 0.0001), as a result of reduced AC haplotype frequency. Thus, the AC haplotype may protect against CRC.

摘要

ZNF217基因是一种潜在的致癌基因，在包括结直肠癌（CRC）在内的多种癌症中发生扩增并过表达，它作为一种转录因子，可激活或抑制靶基因。冠心病中的多态性rs16998248（T>A）和rs35720349（C>T）与ZNF217表达降低有关。在本研究中，我们分析了墨西哥CRC患者中的这两种多态性。通过聚合酶链反应-限制性片段长度多态性对203名墨西哥混血儿、101名CRC患者和102名健康献血者的rs16998248和rs35720349位点进行基因分型。虽然未观察到ZNF217多态性的基因型和等位基因频率存在统计学差异（P>0.05），但由于AC单倍型频率降低，CRC患者中的连锁不平衡具有显著性（r(2)=0.39，P<0.0001）。因此，AC单倍型可能对CRC具有保护作用。