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目的本研究拟采用病例对照方法探讨人类白细胞抗原(HLA)-DRB1*基因单核苷酸多态性与新疆地区维吾尔族及汉族溃疡性结肠炎(UC)易感性的关联性,并应用5-氨基水杨酸(5-ASA)治疗,观察治疗反应,探讨HLA-DRB1*基因单核苷酸多态性与UC疗效之间的关系。方法采用序列特异性引物聚合酶链反应的方法及SBT测序法对120例UC患者和408名健康对照者DNA的HLA-DRB1基因分型,病例组中汉族66例,维吾尔族54例,男性57例,女性63例,平均发病年龄为(48.09±15.63)岁;健康对照组408例,其中汉族212例,维吾尔族196例。120例患者均口服5-ASA,急性期4 g/d,缓解期2 g/d,随餐服用,随访6个月后观察疗效,根据疗效分为治疗有效组及治疗无效组。结果汉族UC患者HLA-DRB1*13等位基因频率高于健康对照组,差异有统计学意义(P<0.05);HLA-DRB1*12等位基因频率低于健康对照组,差异有统计学意义(P<0.05);维吾尔族UC患者HLA-DRB1*01、*04、*13、*14等位基因频率高于健康对照组,差异有统计学意义(P<0.05)。120例UC患者口服5-ASA后对疗效进行比较,发现HLA-DRB1*04、*13、*14等位基因阳性的维吾尔族与汉族UC患者相比较,两组间的治疗效果差异无统计学意义(P>0.05)。结论 HLA-DRB1*基因单核苷酸多态性与新疆地区汉族UC无明显关系,与维吾尔族UC的易感性有关,它们可能在UC的发病中发挥潜在作用,但与新疆地区维吾尔族UC患者服用5-ASA的治疗效果无明显关系。
OBJECTIVE: To investigate the association between human leukocyte antigen (HLA) DRB1 * gene SNP and susceptibility to Uygur and Han ulcerative colitis (UC) in Xinjiang using case-control method. Aminosalicylic acid (5-ASA) treatment, observation of response to treatment, to explore HLA-DRB1 * gene SNP and the relationship between the efficacy of UC. Methods HLA-DRB1 genotyping was performed using sequence-specific polymerase chain reaction (PCR) and SBT sequencing in 120 UC patients and 408 healthy controls. 66 cases of Han, 54 Uighurs and 57 Cases, female 63 cases, the average age of onset (48.09 ± 15.63) years; 408 healthy control group, of which 212 cases of Han, 196 cases of Uygur. 120 patients were orally administered 5-ASA, acute 4g / d, remission 2g / d, with meals, followed up for 6 months after the observed efficacy, according to the efficacy of the treatment group were divided into treatment and treatment of ineffective group. Results The frequency of HLA-DRB1 * 13 allele in Han nationality patients was significantly higher than that in healthy controls (P <0.05), and the frequency of HLA-DRB1 * 12 allele was lower than that in healthy controls (P <0.05). The frequencies of HLA-DRB1 * 01, * 04, * 13 and * 14 alleles in Uygur UC patients were significantly higher than those in healthy controls (P <0.05). 120 cases of UC patients after oral administration of 5-ASA to compare the efficacy and found that HLA-DRB1 * 04, * 13, * 14 allele-positive Uygur and Han UC patients compared with no statistically significant difference between the two groups Significance (P> 0.05). Conclusion The single nucleotide polymorphism of HLA-DRB1 * gene has no significant relationship with UC in Xinjiang Uygur nationality, but may play a potential role in the pathogenesis of UC. However, it may be associated with the Uygur UC patients The effect of 5-ASA treatment was not significantly related.