分析 ATG10 基因中 rs1864182 和 rs1864183 变异与中国广西人群抗中性粒细胞胞质自身抗体相关性血管炎的关系。
Analysis of rs1864182 and rs1864183 variants in ATG10 gene and antineutrophil cytoplasmic autoantibody-associated vasculitis in Chinese Guangxi population.
机构信息
The Second Clinical Medical College of Guangxi Medical University, Nanning, China.
The First Affiliated Hospital of University of South China, Hengyang, China.
出版信息
J Clin Lab Anal. 2022 Feb;36(2):e24193. doi: 10.1002/jcla.24193. Epub 2021 Dec 27.
OBJECTIVES
To investigate the association of autophagy-associated gene 10 (ATG10) gene polymorphisms (rs1864182 and rs1864183) with antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis (AAV) in Chinese Guangxi population.
METHODS
The single nucleotide polymorphisms (SNPs) of ATG10 rs1864182 and rs1864183 in 395 participants (195 AAVs and 200 healthy controls) were genotyped. Generalized multiple dimensionality reduction (GMDR) was used to analyze the SNP-SNP interactions among two SNPs of ATG10 gene and other SNPs of autophagy gene previously studied by our research team.
RESULTS
In this study, we found that the two ATG10 SNPs were not associated with AAV risk in Chinese Guangxi population. However, there were statistically significant differences in the incidence of hemoptysis, hematuria, and proteinuria among the three genotypes of ATG10 rs1864182 and rs1864183 (p < 0.05). Moreover, permutation test of GMDR suggested that immunity-related GTPase M(IRGM) rs4958847, autophagy-associated gene 7 (ATG7) rs6442260, ATG7 rs2594966, ATG10 rs1864183, protein kinase B(AKT2) rs3730051, and AKT2 rs11552192 might interact with each other in the process of developing AAV (p < 0.05).
CONCLUSIONS
Our results indicated that there existed no association between ATG10 SNPs and AAV, and SNP-SNP interactions among IRGM rs4958847, ATG7 rs6442260, ATG7 rs2594966, ATG10 rs1864183, AKT2 rs3730051, and AKT2 rs11552192 may confer AAV risk in the Chinese Guangxi population.
目的
探讨自噬相关基因 10（ATG10）基因多态性（rs1864182 和 rs1864183）与中国广西人群抗中性粒细胞胞质抗体（ANCA）相关性血管炎（AAV）的相关性。
方法
对 395 例参与者（195 例 AAV 和 200 例健康对照）的 ATG10 rs1864182 和 rs1864183 单核苷酸多态性（SNP）进行基因分型。广义多维降维（GMDR）用于分析我们研究团队先前研究的自噬基因中 ATG10 基因的两个 SNP 与其他 SNP 之间的 SNP-SNP 相互作用。
结果
本研究发现，在中国广西人群中，ATG10 两个 SNP 与 AAV 风险无关。然而，在 ATG10 rs1864182 和 rs1864183 的三种基因型中，咯血、血尿和蛋白尿的发生率存在统计学差异（p<0.05）。此外，GMDR 的置换检验表明，免疫相关 GTP 酶 M（IRGM）rs4958847、自噬相关基因 7（ATG7）rs6442260、ATG7 rs2594966、ATG10 rs1864183、蛋白激酶 B（AKT2）rs3730051 和 AKT2 rs11552192 在 AAV 发病过程中可能相互作用（p<0.05）。
结论
我们的结果表明，ATG10 SNP 与 AAV 之间不存在关联，IRGM rs4958847、ATG7 rs6442260、ATG7 rs2594966、ATG10 rs1864183、AKT2 rs3730051 和 AKT2 rs11552192 之间的 SNP-SNP 相互作用可能会导致中国广西人群发生 AAV。
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