Laboratory of Biology, Department of Basic Medical Science, School of Medicine, University of Athens, Michalakopoulou 176, 115 27, Athens, Greece.
Dig Dis Sci. 2013 Aug;58(8):2324-8. doi: 10.1007/s10620-013-2640-y. Epub 2013 Mar 30.
Aberrant expression and structural alteration of miRNAs are considered to participate in inflammation and cancer development. It has been suggested that common single-nucleotide polymorphisms (SNPs) in miRNAs are associated with susceptibility to several human diseases.
In the present preliminary study we evaluated the associations of two SNPs (rs2910164 and rs11614913 in miR-146a and miR-196a2, respectively) with the risk of inflammatory bowel disease (IBD) in a Greek population.
The rs2910164 and rs11614913 SNPs were genotyped in 242 patients with Crohn's disease (CD), 210 patients with ulcerative colitis (UC) and 300 healthy individuals. No statistically significant differences were found in the genotype or allele distributions of the rs2910164 SNP among UC and control subjects. However, significant differences were found in the genotype or allele distributions of the rs2910164 polymorphism among CD and control subjects (P < 0.0001 and P < 0.0001, respectively). Concerning the rs11614913, no statistically significant differences were found in the genotype or allele distributions among CD and control patients, whereas TT genotype and T allele seem to have a protective role against UC (P = 0.017 and P = 0.007, respectively). The presence of rs2910164 and rs11614913 SNPs did not influence disease phenotype.
Our results demonstrate that the rs2910164 polymorphism has a major role in genetic susceptibility to CD but not to UC, since the rs11614913 polymorphism had a protective role against UC, at least in the population studied here. Independent studies are needed to validate our findings in larger series and in patients of different ethnic origins.
miRNAs 的异常表达和结构改变被认为参与了炎症和癌症的发生发展。有研究表明,miRNAs 中的常见单核苷酸多态性(SNP)与多种人类疾病的易感性有关。
在本初步研究中,我们评估了两个 SNP(rs2910164 和 rs11614913,分别位于 miR-146a 和 miR-196a2 中)与希腊人群炎症性肠病(IBD)风险的相关性。
rs2910164 和 rs11614913 基因在 242 例克罗恩病(CD)患者、210 例溃疡性结肠炎(UC)患者和 300 例健康个体中进行了基因分型。UC 和对照组之间,rs2910164 基因的基因型或等位基因分布无统计学差异。然而,CD 和对照组之间,rs2910164 多态性的基因型或等位基因分布存在显著差异(P < 0.0001 和 P < 0.0001)。对于 rs11614913,CD 和对照组患者之间的基因型或等位基因分布无统计学差异,而 TT 基因型和 T 等位基因似乎对 UC 有保护作用(P = 0.017 和 P = 0.007)。rs2910164 和 rs11614913 SNP 的存在并不影响疾病表型。
我们的结果表明,rs2910164 多态性在 CD 的遗传易感性中起主要作用,但对 UC 无作用,因为 rs11614913 多态性对 UC 有保护作用,至少在本研究人群中如此。需要进行独立研究,以在更大的系列和不同种族起源的患者中验证我们的发现。