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目的了解炎症性肠病患者IL-1β基因多态性和等位基因频率的分布情况,探讨IL-1β基因多态性与炎症性肠病(IBD)的发病关系。方法采用PCR-RFLP法,对IBD组(N=48)和正常对照组(N=137)IL-1β启动子区-31、-511位点进行基因分型,计算等位基因频率分布,并进行连锁不平衡分析及其单倍型与疾病的关联分析。结果正常对照组IL-1β-31CC、CT、TT基因型分别为22.63%、56.93%、20.44%,IBD组为33.33%、39.58%、27.08%,两组比较无显著性差异(P>0.05);两组的等位基因频率间也无显著性差异(P>0.05)。正常对照组IL-1β-511TT、TC、CC基因型分别为21.17%、52.55%、26.28%,IBD组为29.17%、43.75%、27.08%,两组比较无显著性差异(P>0.05);两组的等位基因频率间也无显著性差异(P>0.05)。IL-1β-31C/T与-511T/C间存在强连锁不平衡(D=0.915,r=0.735)。IL-1β-31C/-511T单倍体型发生IBD的风险增加(OR=1.216,95%CI0.763~1.937)。结论IL-1β-31、-511均以杂合子C/T、T/C基因型所占的百分比高,提示基因多态性可能与种族有关。IL-1β-31C/T与-511T/C之间存在强连锁不平衡,-31C/-511T单倍体型发生IBD的风险增加。
Objective To investigate the distribution of IL-1β gene polymorphism and allele frequency in patients with inflammatory bowel disease and to explore the relationship between IL-1β gene polymorphism and inflammatory bowel disease (IBD). Methods The genotypes of IL-1β promoter region -31 and -511 in IBD group (N = 48) and normal control group (N = 137) were genotyped by PCR-RFLP to calculate the allele frequency distribution Linkage disequilibrium analysis and haplotype and disease association analysis. Results The genotypes of IL-1β-31CC, CT and TT in normal control group were 22.63%, 56.93% and 20.44% respectively, and those in IBD group were 33.33%, 39.58% and 27.08% respectively. There was no significant difference between the two groups (P> 0.05) There was no significant difference between the two groups in allele frequency (P> 0.05). The levels of IL-1β-511TT, TC and CC in normal control group were 21.17%, 52.55% and 26.28%, respectively, and those in IBD group were 29.17%, 43.75% and 27.08% respectively. There was no significant difference between the two groups (P> 0.05). There was no significant difference between the two groups in allele frequency (P> 0.05). There was a strong linkage disequilibrium between IL-1β-31C / T and -511T / C (D = 0.915, r = 0.735). IL-1β-31C / -511T haplotype IBD increased risk (OR = 1.216,95% CI0.763 ~ 1.937). Conclusion The percentages of C / T and T / C genotypes in both IL-1β-31 and -511 are high, suggesting that the genetic polymorphism may be related to race. There is a strong linkage disequilibrium between IL-1β-31C / T and -511T / C, with an increased risk of IBD in -31C / -511T haplotype.