摘要
目的:探讨细胞色素b-245α多肽(CYBA)、过氧化氢酶(CAT)及核因子κB诱导激酶(NIK)基因单核苷酸多态性与宁夏地区汉族慢性阻塞性肺疾病(COPD)及相关肺动脉高压(PH)发病易感性的关系。方法:取稳定期COPD患者250例(包括COPD相关PH组103例和COPD非PH组147例)及同期健康对照组127例全血,用飞行质谱法检测CYBA基因rs1049255和rs9932581、CAT基因rs1001179和rs7943316及NIK基因rs7222094位点的基因型及等位基因频率。结论:(1)rs1001179位点基因型及等位基因频率分布在健康组和COPD组间差异有统计学显著性(P<0.05):与C等位基因相比,携带T等位基因的优势比(OR)=0.21,95%置信区间(CI)为0.10~0.48。(2)rs1049255位点基因型与等位基因频率在COPD相关PH及COPD非PH组间差异有统计学显著性(P<0.05):与GG基因型相比,携带AA基因型的OR=2.50,95%CI为1.15~5.46;与G等位基因相比,携带A等位基因的OR=1.45,95%CI为1.00~2.08。(3)rs7222094位点等位基因频率在COPD相关PH及COPD非PH组间差异有统计学显著性(P<0.05):与C等位基因相比,携带T等位基因的OR=0.31,95%CI为0.21~4.96。结论:CAT基因rs1001179位点T等位基因可能是COPD的保护因子,可降低COPD的发病风险。CYBA基因rs1049255位点GG基因型和G等位基因及NIK基因rs7222094位点T等位基因可能是COPD相关PH的保护因子,可降低COPD相关PH的发病风险。
AIM:To observe the distribution characteristics of cytochrome b-245 alpha polypeptide(CYBA),catalase(CAT)and nuclear factor-κB-inducing kinase(NIK)gene single nucleotide polymorphisms in the Han Chinese patients with stable chronic obstructive pulmonary disease(COPD)and related pulmonary hypertension(PH)in Ningxia,China.METHODS:Blood samples from 250 patients with stable COPD,including COPD with PH group(n=103)and COPD without PH group(n=147),and 127 healthy controls were collected to detect the genotypes of CYBA gene rs1049255 and rs9932581 loci,CAT gene rs1001179 and rs7943316 loci,and NIK gene rs7222094 locus by flight mass spectrometry.The differences of the genotype and allele frequencies among various groups were compared.RESULTS:(1)The genotype and allele frequencies of rs1001179 locus were statistically different between healthy control group and COPD group.Compared with C allele,the odds ratio(OR)of T allele was 0.214,with 95%confidence interval(CI)at0.10~0.48.(2)The genotype and allele frequencies of rs1049255 locus were significantly different between COPD with PH and COPD without PH groups.Compared with GG genotype and G allele,the OR of AA genotype was 2.50(95%CI:1.15~5.46),and the OR of A allele was 1.45(95%CI:1.00~2.08).(3)The allele frequencies of rs7222094 locus were significantly different between COPD with PH and COPD without PH groups.Compared with C allele,the OR of T allele was 0.31(95%CI:0.21~4.96).CONCLUSION:The CAT gene rs1001179 locus may be associated with the pathogenesis of COPD,and its T allele may be a protective factor that may reduce the risk of COPD.The rs1049255 locus of CYBA gene and the rs7222094 locus of NIK gene may be associated with the susceptibility to COPD-related PH,and the GG genotype and G allele of rs1049255 locus and the T allele of rs7222094 locus may be protective factors which may reduce the risk of COPD-related PH.
作者
谢欣芸
耑冰
苑群
王曦
李萍
谢骏
杨朝
XIE Xin-yun;ZHUAN Bin;YUAN Qun;WANG Xi;LI Ping;XIE Jun;YANG Zhao(Department of Respiratory Medicine,First Affiliated Hospital of Medical College of Northwest Minzu University,People's Hospital of Ningxia Hui Autonomous Region,Yinchuan 750011,China;Department of Respiratory Medicine,Affiliated Suzhou Science&Technology Town Hospital of Nanjing Medical University,Suzhou 215153,China)
出处
《中国病理生理杂志》
CAS
CSCD
北大核心
2020年第7期1302-1307,共6页
Chinese Journal of Pathophysiology
基金
国家自然科学基金资助项目(No.81560014)
宁夏回族自治区重点研发计划一般项目(No.2018BEG03052)
2019年苏州市临床重点病种诊疗技术专项(No.LCZX201931)
2019年苏州高新区医疗卫生科技计划(No.2019Z002)。
