IL-6基因rs1800795、rs1818879位点与慢性阻塞性肺疾病风险的相关性

Association of rs1800795 and rs1818879 sites of IL-6 gene with the risk of chronic obstructive pulmonary disease

目的探讨白细胞介素-6(IL-6)基因rs1800795、rs1818879位点与慢性阻塞性肺疾病(COPD)风险的相关性。方法前瞻性选取2021年1月至2022年5月在秦皇岛市第二医院呼吸内科住院的COPD患者237例作为COPD组,同时选取同期同院体检中心体检正常的受试者100例为对照组。收集两组受试者的一般资料,提取全血DNA,对PCR扩增产物进行基因型和等位基因的测定,评估IL-6基因rs1800795、rs1818879位点与COPD风险的相关性。结果两组受试者的体重指数、职业粉尘接触史、吸烟情况、第一秒用力呼气容积(FEV1)、第一秒用力呼气容积所占预计值的百分比(FEV1%占预计值)、用力肺活量(FVC)和FEV1/FVC比较,差异均有统计学意义(P<0.05)。两个位点的样本分型率均达到97%以上,均符合Hardy-Weinberg遗传平衡;COPD组和对照组的IL-6基因rs1800795位点基因型频率分布情况比较,差异无统计学意义(P>0.05),COPD组和对照组的IL-6基因rs1800795位点等位基因频率分布情况比较,差异有统计学意义(P<0.05);COPD组和对照组的IL-6基因rs1818879位点基因型频率和等位基因频率分布情况比较,差异有统计学意义(P<0.05)。在共显性、显性、隐形、超显性基因型4种遗传模型中,IL-6基因rs1800795位点的基因型频率分布在COPD组和对照组中差异无统计学意义(P>0.05);在等位基因型的遗传模型中,IL-6基因rs1800795位点的基因型频率分布在COPD组和对照组中比较,差异有统计学意义(P<0.05),G等位基因增加了COPD的患病风险(OR=1.735,95%CI:1.052~1.275,P=0.047)。在共显性、显性、隐形、超显性、等位基因型5种遗传模型中,IL-6基因rs1818879位点的基因型频率分布在COPD组和对照组中比较,差异有统计学意义(P<0.05)。结论IL-6基因rs1800795位点G等位基因增加了COPD的患病风险,IL-6基因rs1818879位点可能是COPD的易感性位点,与COPD的发病风险具有一定的相关性。

Objective To explore the relationship between the rs1800795 and rs1818879 loci of interleukin-6(IL-6)gene and the risk of chronic obstructive pulmonary disease(COPD).Methods Prospectively selected 237 patients with COPD who were hospitalized in the department of respiratory medicine,Qinhuangdao Second Hospital from January 2021 to May 2022 as the COPD group,and selected 100 subjects with normal physical examination in the same hospital physical examination center as the control group.Collect the general data of the two groups of subjects,extract the whole blood DNA,determine the genotype and allele of the PCR amplification products,and evaluate the correlation between the rs1800795 and rs1818879 of IL-6 gene and the risk of COPD.Results The body mass index,occupational dust exposure history,smoking status,forced expiratory volume in the first second(FEV1),percentage of forced expiratory volume in the first second(FEV1%),forced vital capacity(FVC)and forced expiratory volume/forced vital capacity in the first second(FEV1/FVC)of the two groups were significantly different(P<0.05).The genotyping rates of both loci were more than 97%,which were consistent with Hardy-Weinberg genetic balance.There was no significant difference in the rs1800795 locus genotype frequency distribution of IL-6 gene between COPD group and control group(P>0.05),but the rs1800795 locus allele frequency distribution of IL-6 gene between COPD group and control group was statistically significant(P<0.05).The genotype frequency and allele frequency distribution of rs1818879 site of IL-6 gene were significantly different between COPD group and control group(P<0.05).In the four genetic models of co-dominant,dominant,invisible and superdominant genotypes,the genotype frequency distribution of rs1800795 site of IL-6 gene was not statistically different between COPD group and control group(P>0.05).In the genetic model of allele genotype,the genotype frequency distribution of rs1800795 locus of IL-6 gene was statistically significant between COPD group and control group(P<0.05),and the G allele increased the risk of COPD(OR=1.735,95%CI:1.052-1.275,P=0.047).In the five genetic models of co-dominant,dominant,invisible,superdominant and allelic genotype,the genotype frequency distribution of IL-6 gene rs1818879 locus was compared between COPD group and control group,and the difference was statistically significant(P<0.05).Conclusion The rs1800795 site G allele of IL-6 gene increases the risk of COPD,and rs1818879 site of IL-6 gene may be the susceptibility site of COPD,and has a certain correlation with the risk of COPD.