AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD gene...AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed <19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The frequency of G allele of ATG16L1 SNP (Ala197Thr) was increased in patients with CD compared with controls (59% vs 54% respectively) (OR = 1.25, CI = 1.08-1.45, P = 0.003), but not in UC (55%). The frequency of A and G (minor) alleles of Arg381Gln, rs11209026 and rs7517847 variants of IL23R were reduced significantly in CD (4%, OR = 0.62, CI = 0.45-0.87, P = 0.005; 28%, OR = 0.64, CI = 0.55-0.75, P < 0.01), compared with controls (6% and 38%, respectively). The A allele (but not G) was also reduced signifi cantly in UC (4%, OR = 0.69, CI = 0.5-0.94, P = 0.019). No association was demonstrated with sub-phenotypes and interaction with CARD15 , and OCTN1/2 genes, although both gene variants were associated with pediatric-onset disease. CONCLUSION: The present study confirms the association of IL23R polymorphisms with IBD, and ATG16L1 with CD, in both adult- and pediatric-onset subsets in our study population.展开更多
目的探究视黄酸相关孤儿受体(RORγt)白细胞介素23(IL-23)通路调节辅助性T细胞17(Th17)在老年盐敏感性高血压发病中的作用。方法对内蒙古自治区的村民进行调查,2021年1月至2022年1月选取289例老年高血压患者作为研究对象,采用Sullivan...目的探究视黄酸相关孤儿受体(RORγt)白细胞介素23(IL-23)通路调节辅助性T细胞17(Th17)在老年盐敏感性高血压发病中的作用。方法对内蒙古自治区的村民进行调查,2021年1月至2022年1月选取289例老年高血压患者作为研究对象,采用Sullivan盐负荷试验将患者进行分组,盐敏感高血压患者103例作为研究组,非盐敏感高血压患者186例作为对照组,给予慢性盐负荷试验。结果研究组收缩压、舒张压、MAP、心率在D10、D17均显著高于对照组(P<0.01)。2组尿量、尿钠、尿钾、尿肌酐水平在基线D3比较无显著差异(P>0.05),D10与对照组比较,研究组尿钠[(315.32±57.21)mmol/24 h vs(226.64±58.53)mmol/24 h,P=0.000]、尿肌酐[(12.46±1.64)mmol/24 h vs(10.12±1.17)mmol/24 h,P=0.000]显著增高。2组Th17比例、IL-17A水平在D4、D5、D10逐渐上升,在D17下降,且研究组Th17比例、IL-17A水平在D4、D5、D10、D17均显著高于对照组(P<0.01)。结论Th17参与了盐敏感性高血压的发生,RORγt-IL-23受体信号通路可诱导Th17细胞分化。展开更多
基金The National Minister of Health grant, No. RC0702GA35
文摘AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed <19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The frequency of G allele of ATG16L1 SNP (Ala197Thr) was increased in patients with CD compared with controls (59% vs 54% respectively) (OR = 1.25, CI = 1.08-1.45, P = 0.003), but not in UC (55%). The frequency of A and G (minor) alleles of Arg381Gln, rs11209026 and rs7517847 variants of IL23R were reduced significantly in CD (4%, OR = 0.62, CI = 0.45-0.87, P = 0.005; 28%, OR = 0.64, CI = 0.55-0.75, P < 0.01), compared with controls (6% and 38%, respectively). The A allele (but not G) was also reduced signifi cantly in UC (4%, OR = 0.69, CI = 0.5-0.94, P = 0.019). No association was demonstrated with sub-phenotypes and interaction with CARD15 , and OCTN1/2 genes, although both gene variants were associated with pediatric-onset disease. CONCLUSION: The present study confirms the association of IL23R polymorphisms with IBD, and ATG16L1 with CD, in both adult- and pediatric-onset subsets in our study population.
文摘目的探究视黄酸相关孤儿受体(RORγt)白细胞介素23(IL-23)通路调节辅助性T细胞17(Th17)在老年盐敏感性高血压发病中的作用。方法对内蒙古自治区的村民进行调查,2021年1月至2022年1月选取289例老年高血压患者作为研究对象,采用Sullivan盐负荷试验将患者进行分组,盐敏感高血压患者103例作为研究组,非盐敏感高血压患者186例作为对照组,给予慢性盐负荷试验。结果研究组收缩压、舒张压、MAP、心率在D10、D17均显著高于对照组(P<0.01)。2组尿量、尿钠、尿钾、尿肌酐水平在基线D3比较无显著差异(P>0.05),D10与对照组比较,研究组尿钠[(315.32±57.21)mmol/24 h vs(226.64±58.53)mmol/24 h,P=0.000]、尿肌酐[(12.46±1.64)mmol/24 h vs(10.12±1.17)mmol/24 h,P=0.000]显著增高。2组Th17比例、IL-17A水平在D4、D5、D10逐渐上升,在D17下降,且研究组Th17比例、IL-17A水平在D4、D5、D10、D17均显著高于对照组(P<0.01)。结论Th17参与了盐敏感性高血压的发生,RORγt-IL-23受体信号通路可诱导Th17细胞分化。
