An association between single nucleotide polymorphisms of IL-23R gene and Keshan disease in Northwest Chinese Han population / 中华地方病学杂志

Objective To investigate the relationship between single nucleotide polymorphisms of interleukin 23 receptor (IL-23R) gene and Keshan disease (KD) in Northwest Chinese Han population.Methods A total of 285 Chinese Han subjects from Huangling,Shaanxi,including 79 KD patients (case group) and 206 control subjects (control group) were involved in this study.Genomic DNA was extracted from peripheral venous blood.The polymorphism of genetic variation was genotyped by matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF).All sample groups were tested for Hardy-Weinberg equilibrium using goodness-of-fit x2 test.Differences in genotype distribution between two groups were compared by x2 test.Logistic regression analysis was applied to detect association using age as a confounding factor.Results The gene frequency distribution of IL-23R gene rs10889677 in case group and control group conformed to the Hardy-Weinberg equilibrium (x2 =0.254,P ＞ 0.05).Correlation analysis results:the difference of genotype frequency of IL-23R gene rs10889677 in case group (CC,CA,AA were 6.3％,36.7％,57.0％,respectively) and control group (CC,CA,AA were 5.3％,43.2％,51.5％,respectively) was not statistically significant (x2 =1.008,P ＞ 0.05).After age adjustment,there was no significant difference in genotype frequency of IL-23R gene rs10889677 (x2sdj =0.669,P ＞ 0.05) between two groups.Conclusion There is no correlation between IL-23R gene rs10889677 and KD in Northwest Chinese Han population.

Association of interleukin-23 receptor gene polymorphisms with susceptibility and phenotypes of inflamumatory bowel diseases in Jiangsu Han population / 中华内科杂志

ObjectiveTo investigate the possible association of interleukin-23 receptor(IL-23R) polymorphisms with the susceptibility and phenotype of inflammatory bowel diseases (IBD) in Jiangsu Han population.MethodsWe genotyped 178 IBD patients including 135 patients with ulcerative colitis ( UC),43 patients with Crohn's disease (CD),and 134 headthy controls for rs11805303,rs1343151,rs11465804,rs11209032,rs17375018,rs11465788.ResultsComparing with the controls (50.4％ ),there was a significant increase in the carriage of the T allele of rs11805303 in UC (60.4％) ( P =0.020).In genotypephenotype correlation of rs17375018 in UC,clinical severity(UCDAI) was associated with the prevalence of the G allele showed a trend to mild activity.Genotype polymorphisms of rs17375018A was observed more in younger than 25 in the genotype-phenotype correlation in CD(41.7％ vs 22.0％,P =0.050,OR =2.532,95％ CI 0.988-6.494),while rs11805303 was associated with age at diagnose and disease lesion (P =O.039 and 0.044).The risk of extra intestinal manifestation in rs17375018A allele carriers was lower (23.1％ vs46.7％,P=0.040,OR =2.917,95％CI 1.027-8.283).ConclusionsWe confirmed the susceptibility of rs11805303polymorphisms with UC and first demonstrated the genotype-phenot correlation of rs11805303,rs17375018 with UC,CD in Jiangsu Han population.