Unidad de Investigación Multidisciplinaria, Facultad de Estudios Superiores Cuautitlán, Universidad Nacional Autónoma de México.
Servicio de Gastroenterología, Hospital de especialidades, Centro Médico Nacional La Raza, Instituto Mexicano del Seguro Social.
Eur J Gastroenterol Hepatol. 2020 Jan;32(1):10-16. doi: 10.1097/MEG.0000000000001540.
Ulcerative colitis and Crohn's disease are the two clinical forms of inflammatory bowel disease (IBD). Diverse studies have shown the association of single nucleotide polymorphism (SNP) in molecules of the immune system and the occurrence of IBD. Here, several SNPs of the immune system with controversial results for their association with UC and CD were evaluated in a Mexican population.
SNPs rs1800896, rs3024505 (IL-10); rs11209026 (IL23R); rs2066844, rs2066845 (NOD-2), and rs2241880 (ATG16L1) were assessed in 93 patients with IBD and 200 healthy controls by hybridization probes and quantitative PCR.
The AG genotype for rs1800896 was associated with an increased risk for both UC and CD (P = 0.005 and P = 0.026, respectively); whereas the AA genotype presents a negative association (P = 0.011 for UC, and 0.0038 for CD). For this SNP, G allele was associated with risk of UC (P = 0-043) but not for CD. For the rs3024505 in IL-10, T allele was associated with UC (P = 0.011). Moreover, this allele was associated with early onset of UC (P = 0.033) and with the use of steroid treatment (P = 0.019). No significant differences for NOD2 (rs2066844T and rs2066845C), IL23R (rs11209026), and ATG16L1 (rs22411880) were found between cases and controls and the homozygous TT genotype for rs2066844 and CC for rs2066845 were not observed.
Our results show both genotypic and phenotypic associations of IL-10 SNPs with IBD but not with the other immune-related SNPs studied in this Mexican cohort.
溃疡性结肠炎和克罗恩病是炎症性肠病（IBD）的两种临床形式。多项研究表明，免疫系统中单核苷酸多态性（SNP）与 IBD 的发生有关。在这里，我们评估了几个在墨西哥人群中与 UC 和 CD 关联结果存在争议的免疫系统 SNP。
通过杂交探针和实时定量 PCR 检测 93 例 IBD 患者和 200 例健康对照者的 IL-10 基因 rs1800896、rs3024505；IL23R 基因 rs11209026；NOD-2 基因 rs2066844、rs2066845；ATG16L1 基因 rs2241880 的 SNP。
rs1800896 的 AG 基因型与 UC 和 CD 的发病风险增加相关（P = 0.005 和 P = 0.026）；而 AA 基因型呈负相关（UC：P = 0.011，CD：P = 0.0038）。对于该 SNP，G 等位基因与 UC 的发病风险相关（P = 0-043），但与 CD 无关。对于 IL-10 基因的 rs3024505，T 等位基因与 UC 相关（P = 0.011）。此外，该等位基因与 UC 的早发性发病相关（P = 0.033），与类固醇治疗的使用相关（P = 0.019）。在病例组和对照组之间，NOD2 基因（rs2066844T 和 rs2066845C）、IL23R 基因（rs11209026）和 ATG16L1 基因（rs22411880）的 SNP 没有发现显著差异，也没有观察到 rs2066844 的 TT 纯合基因型和 rs2066845 的 CC 纯合基因型。
我们的结果显示，IL-10 SNP 与 IBD 存在基因型和表型关联，但与本墨西哥队列中研究的其他免疫相关 SNP 无关。
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