Zhi Yang1, Hongyan Wu, Zhangxue Hu. 1. Department of Nephrology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. hzxawy@hotmail.com.
Abstract
OBJECTIVE: To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy (LPG) confirmed by renal biopsy and to explore its pathogenesis. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
OBJECTIVE: To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy (LPG) confirmed by renal biopsy and to explore its pathogenesis. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Authors: Joaquim Nelito da Silveira-Neto; Guilherme Jinson de Oliveira Ahn; Precil Diego Miranda de Menezes Neves; Vinicius Augusto Ferreira Baptista; Stanley de Almeida Araújo; David Campos Wanderley; Andréia Watanabe; Elieser Hitoshi Watanabe; Neide Missae Murai; Eny Maria Goloni Bertollo; Osvaldo Merege Vieira-Neto; Márcio Dantas; Sergio Ricardo de Antônio; Roberto Silva Costa; Maria Alice Sperto Ferreira Baptista; Miguel Moysés-Neto; Luiz Fernando Onuchic Journal: Diagn Pathol Date: 2021-07-26 Impact factor: 2.644