摘要
目的统计分析四川汉族终末期肾病(end stage renal disease,ESRD)患者的人类白细胞抗原(human leukocyte antigen,HLA)基因多态性及单倍型的频率及分布情况,探索HLA基因多态性及单倍型与四川汉族ESRD患者易感性的相关性。方法采用聚合酶链反应-序列特异性寡核苷酸探针杂交分型技术,对四川汉族ESRD患者和健康对照的HLA-A、-B、-DRB1和-DQB1基因型进行检测,并采用SPSS 25.0和Arlequin 3.5.2.2软件对ESRD患者组和对照组的等位基因频率及单倍型频率进行分析。结果共纳入756例ESRD患者和1118例健康对照。在HLA-A、-B、-DRB1、-DQB14个位点中,ESRD组HLA-B*39等位基因频率高于对照组[3.37%vs.2.19%;χ^(2)=4.850,P=0.028,比值比(odds ratio,OR)=1.558,95%置信区间(confidence interval,CI)(1.047,2.319)],HLA-DQB1*06等位基因频率低于对照组[17.39%vs.21.20%;χ^(2)=8.264,P=0.004,OR=0.783,95%CI(0.662,0.925)],HLA-DQB1*04等位基因频率高于对照组[7.41%vs.5.46%;χ^(2)=5.867,P=0.015,OR=1.386,95%CI(1.063,1.807)]。HLA-A*11-B*39、HLA-DRB1*15-DQB1*06、HLA-DRB1*04-DQB1*04等10种单倍型频率在ESRD组和对照组之间差异有统计学意义(P<0.05),其中9种可能是ESRD的易感单倍型,1种可能是保护性单倍型。结论HLA基因多态性与ESRD易感性密切相关,HLA-B*39、HLA-DQB1*04可能为四川汉族ESRD易感基因,HLA-DQB1*06可能为保护性基因,且有10种HLA单倍型可能与四川汉族ESRD易感性相关。
Objective To analyze the human leukocyte antigen(HLA)gene polymorphism and haplotype frequency and distribution in Han patients with end stage renal disease(ESRD)in Sichuan province,and explore the correlation of HLA gene polymorphism and haplotype with the susceptibility to ESRD in Sichuan Han patients.Methods Polymerase chain reaction-sequence specific oligonucleotide probe hybridization typing technique was used to detect the HLA-A,-B,-DRB1,and-DQB1 genotypes of Han patients with ESRD and healthy participants.The allele and haplotype frequencies in the ESRD group and the control group were analyzed using SPSS 25.0 and Arlequin 3.5.2.2softwares.Results A total of 756 ESRD patients and 1118 healthy participants were enrolled.In the four loci of HLA-A,-B,-DRB1,and-DQB1,the frequency of HLA-B*39 allele in the ESRD group was higher than that in the control group[3.37%vs.2.19%;χ~2=4.850,P=0.028,odds ratio(OR)=1.558,95%confidence interval(CI)(1.047,2.319)],the frequency of HLADQB1*06 allele in the ESRD group was lower than that in the control group[17.39%vs.21.20%;χ~2=8.264,P=0.004,OR=0.783,95%CI(0.662,0.925)],and the frequency of HLA-DQB1*04 allele in the ESRD group was higher than that in the control group[7.41%vs.5.46%;χ~2=5.867,P=0.015,OR=1.386,95%CI(1.063,1.807)].The frequencies of 10 haplotypes,including HLA-A*11-B*39,HLA-DRB1*15-DQB1*06,and HLA-DRB1*04-DQB1*04,were significantly different between the ESRD group and the control group(P0.05),among which 9 haplotypes were possibly susceptible to ESRD and1 haplotype was possibly protective.Conclusions HLA gene polymorphism is closely related to the susceptibility to ESRD.HLA-B*39 and HLA-DQB1*04 may be susceptible genes for ESRD in Sichuan Han patients,while HLA-DQB1*06may be a protective gene.In addition,10 HLA haplotypes are possibly associated with the susceptibility to ESRD in Sichuan Han patients.
作者
王念
巫丽娟
朱灵芝
彭武
庄杰
周汶静
宋梦媛
李美
叶远馨
宋兴勃
WANG Nian;WU Lijuan;ZHU Lingzhi;PENG Wu;ZHUANG Jie;ZHOU Wenjing;SONG Mengyuan;LI Mei;YE Yuanxin;SONG Xingbo(Department of Laboratory Medicine,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,P.R.China)
出处
《华西医学》
CAS
2023年第8期1142-1147,共6页
West China Medical Journal
基金
四川省科技计划项目(2021YFS0157,2022YFS0095)
四川大学华西医院博士后基金(2021HXBH009)。
关键词
终末期肾病
人类白细胞抗原
基因多态性
易感性
End-stage renal disease
human leukocyte antigen
gene polymorphism
susceptibility
