Facultad de Medicina, Universidad de Colima, Colima, Mexico.
Laboratorio de Genética Humana, Universidad de Guadalajara Campus Centro Universitario del Sur, Ciudad Guzmán, Mexico.
J Investig Med. 2022 Apr;70(4):947-952. doi: 10.1136/jim-2021-002047. Epub 2021 Dec 30.
Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of represent a risk factor for CRC development in Mexican patients.
结直肠癌(CRC)是全球第三大常见癌症,也是死亡的主要原因之一。多项证据表明,促肾上腺皮质激素释放激素(CRH)家族在 CRC 的诱导中起作用,包括血管生成抑制剂和炎症调节剂的促肾上腺皮质激素释放激素受体 2()表达降低。先前的研究表明,结肠肠细胞中的 CRHR2 表达可以通过调节几种途径来调节迁移、增殖和凋亡。本研究旨在分析基因的 rs10250835、rs2267716 和 rs2267717 变体与墨西哥人群 CRC 的关联,以考虑其在 CRC 中的预测价值。这项横断面研究包括一组 187 例无关联的散发性 CRC 患者和一组 191 名健康献血者作为对照组。采用 Miller 法从外周血中提取 DNA。采用 PCR-限制性片段长度多态性(RFLP)法检测 rs10250835 变异,采用 TaqMan 等位基因鉴别检测法检测 rs2267716 和 rs2267717 变异。CRC 组和对照组 rs2267716 变体的纯合子 CC 等位基因显示出显著差异(p=0.025),以及 GCA 单倍型(p=0.007),分别对应于 rs10250835、rs2267716 和 rs2267717 变体。我们的结果表明,基因的 rs2267716 变体和 GCA 单倍型代表了墨西哥患者 CRC 发展的危险因素。