摘要
目的探讨广西地区人群自噬相关基因(ATG)3 rs2638029、rs3732817位点多态性与原发抗中性粒细胞胞质抗体相关性小血管炎(AAV)的关联关系。方法采用多重PCR结合高通量测序技术检测194例AAV患者(AAV组)和195例健康成人(对照组)ATG3 rs2638029、ATG3 rs3732817位点的基因型,并收集受试者相关临床资料,分析其基因多态性与AAV易感性、临床症状的关系。结果ATG3 rs2638029、ATG3 rs3732817等位基因和基因型在AAV组和对照组分布差异无统计学意义(P>0.05),两位点存在连锁不平衡(D′=0.969,r^(2)=0.249),两位点可构建3个常见单体型,在AAV组和对照组中,各单体型分布差异无统计学意义(P>0.05)。ATG3 rs2638029及rs3732817不同基因型之间,水肿、血尿、蛋白尿症状发生率比较差异无统计学意义(P>0.05)。ATG3 rs2638029位点不同基因型IgG水平分布差异有统计学意义(P<0.05)。ATG3 rs3732817位点不同基因型白蛋白水平分布差异有统计学意义(P<0.05)。结论广西人群中的AAV患者ATG3基因多态性可能与IgG水平升高、低白蛋白血症相关联,但可能与AAV患者的遗传易感性无明显关联性。
Objective To investigate the association between rs2638029 and rs3732817 locus polymorphisms of autophagy related genes(ATG)3 and primary antineutrophil cytoplasmic antibody-associated with small vasculitis(AAV)in Guangxi area population.Methods The genotypes of ATG3 rs2638029 and ATG3 rs3732817 were detected by multiplex PCR combined with high throughput sequencing in 194 patients with AAV(AAV group)and 195 healthy adults(control group).The related clinical data of the subjects were collected,and the relationship between gene polymorphism and susceptibility to AAV and clinical symptoms was analyzed.Results There was no significant difference in the distribution of ATG3 rs2638029 and ATG3 rs3732817 alleles and genotypes between AAV group and control group(P>0.05).There was a linkage disequilibrium between the two loci(D′=0.969,r^(2)=0.249),and the common haplotypes could be constructed at the two loci.There was no significant difference in the distribution of haplotypes between AAV group and control group(P>0.05).There was no significant difference in the incidence of edema,hematuria and proteinuria among different genotypes of ATG3 rs2638029 and rs3732817(P>0.05).There were significant differences in the distribution of IgG levels among different genotypes of ATG3 rs2638029 locus(P<0.05).There were significant differences in the distribution of albumin levels among different genotypes of ATG3 rs3732817 locus(P<0.05).Conclusions The ATG3 gene polymorphism of AAV patients in Guangxi population might be associated with the elevated IgG level and hypoalbuminemia,but it might not be obviously associated with genetic susceptibility of AAV patients.
作者
韦静思
饶金兰
朱艳
黄山珊
黎伟
黄莉
薛超
WEI Jing-Si;RAO Jin-Lan;ZHU Yan(The Second Clinical Medical College of Guangxi Medical University,Nanning 530021,Guangxi,China)
出处
《中国老年学杂志》
CAS
北大核心
2023年第11期2645-2649,共5页
Chinese Journal of Gerontology
基金
国家自然科学基金(81360117)
广西壮族自治区科学技术厅项目(2018JJA140220)
广西医疗卫生适宜技术开发与推广项目(S2017010)。
关键词
自噬相关基因(ATG)3
抗中性粒细胞胞质抗体相关性血管炎
自噬
多态性
单核苷酸
Autophagy related genes(ATG)3
Antineutrophil cytoplasmic antibody-associated with small vasculitis
Autophagy
Poly-morphism
Single nucleotide
