Yang Zhi, Wu Hongyan, Hu Zhangxue
Department of Nephrology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):166-169. doi: 10.3760/cma.j.issn.1003-9406.2020.02.017.
To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy (LPG) confirmed by renal biopsy and to explore its pathogenesis.
Clinical and pathological data was collected. DNA was extracted from peripheral blood sample of the patient and subjected to PCR and Sanger sequencing. Pathogenicity of the variant was analyzed by bioinformatics software.
Renal biopsy of the patient has confirmed the diagnosis of LPG. DNA sequencing suggested that the patient has carried a heterozygous c.527G>C (p.R176P) variant of the APOE gene (APOE Osaka/Kurashiki). Four cases of LPG have been found to carry the same variant, and the encoded amino acid (p.176R) is highly conserved during evolution. Bioinformatic analysis using SIFT, PolyPhen2 and PANTHER software all predicted the variant to be pathogenic.
The discovery of author's patient provided further evidence for the pathogenicity of APOE Osaka/Kurashiki and, more importantly, provide new evidence for the multiracial origin of LPG-related APOE variants.
检测经肾活检确诊的中国藏族脂蛋白肾小球病（LPG）患者的载脂蛋白E（APOE）基因变异，并探讨其发病机制。
收集临床和病理资料。从患者外周血样本中提取DNA，进行聚合酶链反应（PCR）和桑格测序。采用生物信息学软件分析该变异的致病性。
患者的肾活检确诊为LPG。DNA测序表明患者携带APOE基因的杂合c.527G>C（p.R176P）变异（APOE大阪/仓敷型）。已发现4例LPG患者携带相同变异，且编码的氨基酸（p.176R）在进化过程中高度保守。使用SIFT、PolyPhen2和PANTHER软件进行的生物信息学分析均预测该变异具有致病性。
作者对该患者的发现为APOE大阪/仓敷型的致病性提供了进一步证据，更重要的是，为LPG相关APOE变异的多种族起源提供了新证据。
