Discovery of a Chinese Tibetan patient with lipoprotein glomerulopathy due to APOE Osaka/Kurashiki variant / 中华医学遗传学杂志

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.