炎症相关多态性IFNG-AS1 rs1558744和CCAT2 rs6983267：溃疡性结肠炎的潜在危险因素。
Inflammation-related polymorphisms IFNG-AS1 rs1558744 and CCAT2 rs6983267: Potential risk factors for ulcerative colitis.
作者信息
Sari-Tiric Dilek, Orenay-Boyacioglu Seda, Kasap Elmas
机构信息
School of Medicine, Department of Endocrinology and Metabolic Diseases, Atatürk University, Erzurum, Türkiye.
School of Medicine, Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Efeler, Aydın, 09010, Türkiye.
出版信息
Indian J Gastroenterol. 2025 Jun 18. doi: 10.1007/s12664-025-01801-8.
BACKGROUND
Recent research indicates that long non-coding RNAs (lncRNAs) may have a regulatory role in inflammatory processes, potentially influencing the development of inflammatory bowel diseases such as ulcerative colitis (UC). However, the relationship between UC and lncRNAs remains unclear, highlighting the need for further research in this area.
AIM
This study aimed to define the possible roles of inflammation-related lncRNA polymorphisms in the pathogenesis of UC.
METHOD
The study included adult patients over 18 years of age diagnosed with UC (n = 73) and a control group consisting of age-matched healthy individuals without any gastrointestinal complaints (n = 73). The inflammation-related ANRIL (rs10757278, rs1333048), IFNG-AS1 (rs1558744, rs7134599), LINC01430 (rs6017342), LOC101926945 (rs561722) and CCAT2 (rs6983267) polymorphisms were examined using the Fluidigm SNP Type method.
RESULTS
Of UC patients, 34.25% (n = 25) had proctitis, 28.77% (n = 21) had distal colon involvement and 36.98% (n = 27) had total colon involvement. Also, of the UC patients, 45.20% (n = 33) had suffered for 0-5 years, 41.10% (n = 30) for 5-10 years and 13.70% (n = 10) for 10-16 years. According to the pathology results of the most recent colonoscopy performed on UC patients, the disease was active in 60.27% (n = 44) and in remission in 39.73% (n = 29). The genotype distributions of the IFNG-AS1 rs1558744 and CCAT2 rs6983267 polymorphisms between the two groups revealed statistically significant results (p = 0.042 and p = 0.033, respectively). Allele frequency distributions of the IFNG-AS1 rs1558744 polymorphism between the UC and control groups were also statistically significant (p = 0.040). No statistically significant differences were observed when the examined polymorphisms were analyzed in relation to the location of involvement, disease activity state or disease duration in UC patients (p > 0.05).
CONCLUSION
IFNG-AS1 rs1558744 and CCAT2 rs6983267 polymorphisms may be significant risk factors for the development of UC.
背景
近期研究表明，长链非编码RNA（lncRNAs）可能在炎症过程中发挥调节作用，可能影响溃疡性结肠炎（UC）等炎症性肠病的发展。然而，UC与lncRNAs之间的关系仍不清楚，这凸显了该领域进一步研究的必要性。
目的
本研究旨在确定炎症相关lncRNA多态性在UC发病机制中的可能作用。
方法
该研究纳入了18岁以上诊断为UC的成年患者（n = 73）以及由年龄匹配的无任何胃肠道不适的健康个体组成的对照组（n = 73）。使用Fluidigm SNP Type方法检测炎症相关的ANRIL（rs10757278，rs1333048）、IFNG-AS1（rs1558744，rs7134599）、LINC01430（rs6017342）、LOC101926945（rs561722）和CCAT2（rs6983267）多态性。
结果
在UC患者中，34.25%（n = 25）患有直肠炎，28.77%（n = 21）有远端结肠受累，36.98%（n = 27）有全结肠受累。此外，在UC患者中，45.20%（n = 33）患病0至5年，41.10%（n = 30）患病5至10年，13.70%（n = 10）患病10至16年。根据对UC患者最近一次结肠镜检查的病理结果，疾病处于活动期的占60.27%（n = 44），缓解期的占39.73%（n = 29）。两组之间IFNG-AS1 rs1558744和CCAT2 rs6983267多态性的基因型分布显示出具有统计学意义的结果（分别为p = 0.042和p = 0.033）。UC组和对照组之间IFNG-AS1 rs1558744多态性的等位基因频率分布也具有统计学意义（p = 0.040）。当分析所检测的多态性与UC患者的受累部位、疾病活动状态或病程的关系时，未观察到统计学上的显著差异（p>0.05）。
结论
IFNG-AS1 rs1558744和CCAT2 rs6983267多态性可能是UC发生的重要危险因素。
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