Department of Nephrology, The First Affiliated Hospital School of Medicine, Xi'an Jiaotong University, Xi'an, China.
Renal Hemodialysis Center, Shaanxi Provincial People's Hospital, Xi'an, China.
Kidney Blood Press Res. 2019;44(4):810-822. doi: 10.1159/000501703. Epub 2019 Jul 10.
BACKGROUND/AIMS: The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study.
Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk.
We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01-1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01-2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04-1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05-10.51, p = 0.042) before Bonferroni correction.
These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.
背景/目的:ACYP2(酰基磷酸酶 2)多态性与中国汉族人群免疫球蛋白 A 肾病(IgAN)风险之间的关联尚不清楚。我们旨在通过病例对照研究评估 ACYP2 多态性与 IgAN 风险之间的关联。
使用Sequenom MassARRAY 平台对 416 例 IgAN 患者和 495 例健康对照者的 11 个 ACYP2 单核苷酸多态性(SNP)进行基因分型。计算比值比(OR)和 95%置信区间(CI)来评估 ACYP2 多态性与 IgAN 风险的关联。
我们观察到 rs843720 与 IgAN 风险增加显著相关(等位基因 G:OR=1.23,95%CI:1.01-1.49,p=0.036;显性模型:OR=1.55,95%CI:1.01-2.37,p=0.044;加性模型:OR=1.43,95%CI:1.04-1.95,p=0.026),但未经 Bonferroni 校正。SNP rs12615793 也与隐性模型中的 IgAN 风险增加显著相关(OR=3.33,95%CI:1.05-10.51,p=0.042),但未经 Bonferroni 校正。
这些发现表明,ACYP2 的多态性(rs843720 和 rs12615793)可能在 IgAN 的发生发展中起关键作用。然而,未来需要进行更多功能和关联研究,以更大的样本量进一步验证我们的结果。