Role of the p.E66Q variant of GLA in the progression of chronic kidney disease
Role of the p.E66Q variant of GLA in the progression of chronic kidney disease
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GLA p.E66Q 变体在慢性肾病进展中的作用
DOI：
10.1007/s10157-014-0969-y
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发表时间：
2014
期刊：
影响因子：
2.3
通讯作者：
Narita I
中科院分区：
文献类型：
--
作者：
Watanabe H;Goto S;Miyashita A;Maruyama H;Wakasugi M;Yokoseki A;Kuwano R;Narita I
在日本，α-半乳糖苷酶A基因（GLA）的p.E66Q变异体在透析患者的法布里病筛查中经常被发现。然而，最近的报告表明，p.E66Q变异不是一种致病突变，而是脑小血管闭塞的危险因素。为了评估p.E66 Q在肾脏疾病进展中的作用，我们进行了一项遗传相关性研究，在慢性肾脏病（CKD）的患者。MethodsIn这项研究中，我们招募了1651慢性血液透析和941非透析患者参加医疗机构在新泻县，日本。利用先前发表的日本男性新生儿研究数据，比较了血液透析患者和非透析患者的p.E66Q等位基因频率。此外，我们比较了估计肾小球滤过率（eGFR）的存在或不存在的p.E66Q变异non-dialysis patients.ResultsOf的2233个等位基因在血液透析和1447等位基因在非透析患者，21和9窝藏p.E66Q，分别。然而，两个患者组之间的p.E66Q等位基因频率没有差异（0.90 vs 0.62%，P= 0.35），男性血液透析患者和日本普通人群之间的p.E66Q等位基因频率没有显著差异（0.52 vs 0.63%，P= 0.67）。此外，eGFR与p.E66Q变异的非透析患者和野生型等位基因患者之间没有显著差异（65.5 ± 10.7 vs 62.7 ± 16.6 mL/min/1.73 m2，P= 0.69）。
BackgroundThe p.E66Q variant of theα-galactosidase Agene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan. However, recent reports suggest that the p.E66Q variant is not a disease-causing mutation but is a risk factor for cerebral small-vessel occlusion. To evaluate the role of the p.E66Q in the progression of renal diseases, we performed a genetic association study in patients with chronic kidney disease (CKD).MethodsIn this study, we enrolled 1651 chronic hemodialysis and 941 non-dialysis patients who attended medical institutions in the Niigata Prefecture, Japan. The frequency of the p.E66Q allele was compared between hemodialysis and non-dialysis patients, with data from a previously published study of Japanese male newborns. In addition, we compared estimated glomerular filtration rates (eGFR) in the presence or absence of the p.E66Q variant in non-dialysis patients.ResultsOf the 2233 alleles in hemodialysis and 1447 alleles in non-dialysis patients, 21 and nine harbored p.E66Q, respectively. However, p.E66Q allele frequencies did not differ between the two patient groups (0.90 versus 0.62 %,P= 0.35), and no significant difference in p.E66Q allele frequency was observed between male hemodialysis patients and the general Japanese population (0.52 versus 0.63 %,P= 0.67). Moreover, eGFR did not significantly differ between non-dialysis patients with the p.E66Q variant and patients with the wild-type allele (65.5 ± 10.7 versus 62.7 ± 16.6 mL/min/1.73 m2,P= 0.69).ConclusionThis study indicated that the p.E66Q variant ofGLAdoes not affect the progression of CKD.