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目的探讨白细胞介素-1β(IL-1β)基因-511C/T、-31 C/T、+3954 C/T位点多态性与汉族人群慢性阻塞性肺疾病(COPD)易感性之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测河北省唐山地区汉族162例COPD稳定期患者和162例对照组人群的IL-1β基因-511、-31、+3954位点的基因型和等位基因及其分布。结果 (1)COPD组IL-1β基因-511位点CC、CT、TT基因型频率分别为19.75%、62.96%、17.28%,对照组分别为22.22%、61.11%、16.67%,两组比较,差异无统计学意义(P>0.05);COPD组IL-1β基因-31位点CC、CT、TT基因型频率分别为19.75%、62.35%、17.90%,对照组分别为22.22%、61.11%、16.67%,两组比较,差异无统计学意义(P>0.05);COPD组IL-1β基因+3954位点CC、CT、TT基因型频率分别为87.04%、12.96%、0.00%,对照组分别为90.12%、9.26%、0.62%,两组比较,差异无统计学意义(P>0.05)。COPD组IL-1β基因-511位点C、T等位基因频率分别为51.23%和48.77%,对照组为52.78%和47.22%,两组比较,差异无统计学意义(P>0.05);COPD组IL-1β基因-31位点C、T等位基因频率分别为50.93%和49.07%,对照组为52.78%和47.22%,两组比较,差异无统计学意义(P>0.05);COPD组IL-1β基因+3954位点C、T等位基因频率分别为93.52%和6.48%,对照组为94.75%和5.25%,两组比较,差异无统计学意义(P>0.05)。(2)COPD组IL-1β基因-31C:+3954T单体型频率高于对照组,差异有统计学意义(P<0.05)。(3)COPD组血清IL-1β水平([3.96±0.35)ng/ml]明显高于对照组([2.69±0.14)ng/ml],差异有统计学意义(P<0.01)。结论 IL-1β基因-511、-31、+3954位点C/T多态性与COPD无关,IL-1β基因-31C:+3954T单体型频率可能与汉族人群COPD的发病有关联。
Objective To investigate the association between IL-1β gene -511C / T, -31 C / T and +3954 C / T polymorphisms and susceptibility to chronic obstructive pulmonary disease (COPD) in Han population relationship. Methods PCR-RFLP was used to detect IL-1β-511, -31, IL-1β in 162 stable COPD patients and 162 control subjects of Han nationality in Tangshan, Hebei Province. Genotypes and alleles at +3954 locus and their distribution. Results The frequencies of CC, CT and TT genotypes in IL-1β gene-511 locus in COPD group were 19.75%, 62.96% and 17.28% respectively, while those in control group were 22.22%, 61.11% and 16.67% respectively. The frequencies of CC, CT and TT genotypes in IL-1β gene -31 locus in COPD group were 19.75%, 62.35% and 17.90% respectively, while those in control group were 22.22% and 61.11% respectively. There was no significant difference between the two groups (P> 0.05) The frequencies of CC, CT and TT genotypes in IL-1β gene +3954 locus in COPD group were 87.04%, 12.96% and 0.00%, respectively (90.12%, 9.26%, 0.62%). There was no significant difference between the two groups (P> 0.05). The frequencies of C and T allele at -511 of IL-1β gene in COPD group were 51.23% and 48.77%, respectively, and those in control group were 52.78% and 47.22% respectively. There was no significant difference between the two groups (P> 0.05) The frequencies of C and T alleles at -31 locus of IL-1β gene were 50.93% and 49.07% in the control group and 52.78% and 47.22% in the control group, respectively. There was no significant difference between the two groups (P> 0.05) The frequencies of C and T alleles at +3954 locus in IL-1β gene were 93.52% and 6.48% respectively, while those in control group were 94.75% and 5.25%. There was no significant difference between the two groups (P> 0.05). (2) The frequency of IL-1βgene-31C: + 3954T haplotype in COPD group was higher than that in control group, with significant difference (P <0.05). (3) The level of IL-1β in COPD group was significantly higher than that in control group [(3.96 ± 0.35) ng / ml vs (2.69 ± 0.14) ng / ml, P <0.01). Conclusion The C / T polymorphisms of -511, -31 and +3954 sites of IL-1β gene are not associated with COPD. The frequency of IL-1β gene-31C: + 3954T haplotype may be related to the pathogenesis of COPD in Han population.