IL-19基因多态性与克罗恩病易感性和疾病表型的相关性分析  

Association analysis of interleukin-19 gene polymorphisms with susceptibility and clinical phenotypes of Crohn′s disease

作　　者：胡益冰 郭茂东 胡敏鹂 卢翀 丁进 王群英 Hu Yibing;Guo Maodong;Hu Minli;Lu Chong;Ding Jin;Wang Qunying(Department of Gastroenterology,Affiliated Jinhua Hospital,Zhejiang University School of Medicine,Jinhua 321000,China)

机构地区：[1]浙江大学医学院附属金华医院(金华市中心医院)消化内科,金华321000

出　　处：《中华炎性肠病杂志（中英文）》2022年第2期143-149,共7页Chinese Journal of Inflammatory Bowel Diseases

基　　金：浙江省医药卫生科技计划项目(2019RC302);金华市科技局资助项目(2018-3-011、2020-4-012)。

摘　　要：目的探讨白细胞介素19(IL-19)基因多态性与克罗恩病(CD)易感性及疾病表型的关系。方法采用回顾性病例对照研究方法, 纳入金华市中心医院83例CD患者和120例性别、年龄相匹配的健康对照者, 采用Sanger测序检测IL-19基因rs2243188和rs2243193位点的等位基因和基因型频率。比较两组间rs2243188和rs2243193位点的等位基因和基因型频率的差异, 分析以上位点基因多态性与疾病表型(疾病部位和疾病行为)和药物疗效的相关性。结果 CD组和对照组之间间IL-19基因rs2243188和rs2243193位点的等位基因和基因型频率差异均有统计学意义(P均<0.05)。回结肠型CD患者rs2243188基因型CC+CA频率高于对照组(86.67%比60.00%, OR = 4.333, 95%CI:1.891 ~ 9.929, P = 0.001)。与对照组相比, 回肠末段(44.44%比37.08%, OR = 5.589, 95%CI:5.378 ~ 5.918, P = 0.019)、回结肠型(50.00%比37.08%, OR = 6.589, 95%CI:6.378 ~ 7.918, P = 0.018)CD患者rs2243188位点突变的等位基因C的频率更高;回肠末段(55.56%比93.33%, OR = 0.089, 95%CI:0.020 ~ 0.399, P = 0.002)、回结肠型(75.00%比93.33%, OR = 0.214, 95%CI:0.085 ~ 0.540, P = 0.001)CD患者rs2243193位点基因型GA+AA的频率更低;回肠末段(50.00%比70.83%, OR = 0.809, 95%CI:0.724 ~ 0.908, P = 0.023)、回结肠型(47.50%比70.83%, OR = 0.132, 95%CI:0.008 ~ 0.502, P = 0.018)CD患者rs2243193位点突变等位基因A的频率更低。进一步分层分析发现, 与对照组相比, 回肠累及组中rs2243188位点突变等位基因C(49.28%比37.08%, OR = 1.607, 95%CI:1.397 ~ 2.927, P = 0.021)和基因型CC+CA(84.06%比60.00%, OR = 3.515, 95%CI:1.676 ~ 7.374, P = 0.001)频率更高, 差异均有统计学意义。与对照组相比, 回肠累及组的rs2243193位点的突变等位基因A(47.83%比70.83%, OR = 0.742, 95%CI:0.709 ~ 1.741, P = 0.015)和基因型GA+AA(72.46%比93.33%, OR = 0.188, 95%CI:0.077 ~ 0.458, P = 0.002)的频率更低;穿透型CD患者中rs2243193位点的突变等位基因A(50.00%比70.83%, OR = 0.2Objectives To explore the association of interleukin-19 gene polymorphisms with susceptibility and clinical phenotypes of Crohn′s disease(CD).Methods A retrospective case-control study was conducted.Eighty-three CD patients and 120 healthy people in Jinhua Municipal Central Hospital with matched gender and age as controls were enrolled.Allele and genotype frequencies of interleukin-19 gene rs2243188 and rs2243193 loci were detected by Sanger sequencing.The differences in allele and genotype frequencies of rs2243188 and rs2243193 loci between the two groups were compared,and the association between gene polymorphisms of the above loci and disease phenotype(disease site and disease behavior)and drug efficacy was analyzed.Results The allelic and genotypic frequencies of the rs2243188 and rs2243193 loci differed between the two groups(all P<0.05).Compared with control group,genotype CC+CA of rs2243188 frequency was higher in patients with ileocolonic CD(86.67%vs.60.00%,OR=4.333,95%CI:1.891-9.929,P=0.001),allele C of rs2243188 frequencies were higher in patients with terminal ileal CD(44.44%vs.37.08%,OR=5.589,95%CI:5.378-5.918,P=0.019)and ileocolonic CD(50.00%vs.37.08%,OR=6.589,95%CI:6.378-7.918,P=0.018).However,genotype GA+AA of rs2243193 frequencies were lower in patients with terminal ileal CD(55.56%vs.93.33%,OR=0.089,95%CI:0.020-0.399,P=0.002)and ileocolonic CD(75.00%vs.93.33%,OR=0.214,95%CI:0.085-0.540,P=0.001),allele A of rs2243193 frequencies were lower in patients with terminal ileal CD(50.00%vs.70.83%,OR=0.809,95%CI:0.724-0.908,P=0.023)and ileocolonic CD(47.50%vs.70.83%,OR=0.132,95%CI:0.008-0.502,P=0.018).Furthermore,compared with control group,allele C(49.28%vs.37.08%,OR=1.607,95%CI:1.397-2.927,P=0.021)and genotype CC+CA(84.06%vs.60.00%,OR=3.515,95%CI:1.676-7.374,P=0.001)of rs2243188 frequencies were higher in patients with ileal lesion,allele A(47.83%vs.70.83%,OR=0.742,95%CI:0.709-1.741,P=0.015)and genotype GA+AA(72.46%vs.93.33%,OR=0.188,95%CI:0.077-0.458,P=0.002)of rs2243193 frequencies were lower in pat

关 键 词：克罗恩病 白细胞介素-19 基因 多态性 

分 类 号：R574.62[医药卫生—消化系统]