白细胞介素-23受体基因多态性与炎症性肠病关系的初步研究

Preliminary study on relationship between gene polymorphisms of interleukin-23 receptor and inflammatory bowel disease

目的初步探讨白细胞介素-23受体（IL23R）基因中两个单链核苷酸多态性（SNP）位点（rs11209026和rs11805303）的遗传多态性和炎症性肠病（IBD）的发病易感性之间的关系。方法采用聚合酶链反应（PCR）直接测序法检测50名健康人和81例IBD患者（其中克罗恩病41例，溃疡性结肠炎40例）的两个SNP位点基因多态性。结果rs11209026位点基因型频率和等位基因频率在克罗恩病患者分别为7．3％和3．7％，在溃疡性结肠炎患者分别为15．0％和7．5％，在对照组分别为14．0％和7．0％，三组间差异均无统计学意义（P值均〉0．05）。rs11805303位点的基因型频率和等位基因频率在克罗恩病患者分别为22．0％和52．4％、在溃疡性结肠炎患者分别为15．0％和41．2％，在对照组分别为34．0％和59．0％，三组间基因型频率比较差异均无统计学意义（P值均〉0．05），而等位基因频率在溃疡性结肠炎患者和对照组间差异有统计学意义（P=0．018）。rs11805303位点基因多态性与溃疡性结肠炎患者的发病年龄、性别、疾病的活动性及发病部位均无关（P值均〉0．05）。结论IL23R两个SNP位点基因多态性与克罗恩病无相关性。rs11805303位点的多态性可能为溃疡性结肠炎患者的一个遗传标志，但与该病病变特点无显著相关。

Objective To investigate the association of two single nuclear peptides （SNPs） polymorphisms （rs11209026 and rs11805303） which lies in interleukin-23 receptor （IL23R） gene with susceptibility to inflammatory bowel disease （IBD）. Methods The target SNPs were directly sequenced by polymerase chain reaction （PCR）and gene polymorphisms of 50 healthy and 81 patients with IBD （Crohn＇s disease in 41 patients and ulcerative colitis in 40 patients） were analyzed using chromas software. Results The geno-type frequency and allelic frequency of rs11209026 were 7.3% and 3.7% in patients with Crohn＇s disease respectively, 15.0% and 7.5% in patients with ulcerative colitis respectively as well as 14. 0% and 7. 0% in normal population respectively（all P value 〉0. 05）. The geno-type frequency and allelic frequency of rs11805303 were 22. 0% and 52. 4% in patients with Crohn＇s disease respectively, 15.0% and 41. 2% in patients with ulcerative colitis respectively as well as 34. 0% and 59.0% in normal population respectively （all P value 〉 0. 05）. But in allelic frequency there was significant difference between ulcerative colitis patients and normal population （P=0. 018） . The polymorphisms of rsl 1805303 loci did not correlate with age, gender, disease duration, activity and site in patients with ulcerative colitis. Conclusions IL23R gene polymorphism is not associated with the susceptibility to Crohn＇s disease, rs11805303 allele may be related with susceptibility to ulcerative colitis. But no correlation was found between the SNP polymorphisms and the clinical characteristic of ulcerative colitis.