Changming Zhang, Xu Han, Ying Jin, Xiang Chen, Cheng Gong, Jiahui Peng, Yusha Wang, Xiaoxin Luo, Zhaohui Yang, Yangyang Zhang, Weiguo Wan, Xiaohui Liu, Jianhua Mao, Haiguo Yu, Jingyi Li, Li Liu, Li Sun, Sirui Yang, Yu An, Zhengzhao Liu, Erzhi Gao, Honghao Zhu, Yinghua Chen, Xiaomin Yu, Qing Zhou, Zhihong Liu
BACKGROUND: Lupus nephritis is a rare immunological disorder. Genetic factors are considered important in its causation. We aim to systematically investigate the rare pathogenic gene variants in patients with lupus nephritis. METHODS: Whole-exome sequencing was used to screen pathogenic gene variants in 1886 probands with lupus nephritis. Variants were interpreted based on known pathogenic variants or the American College of Medical Genetics and Genomics (ACMG) guideline, and studied by functional analysis including RNA sequencing, quantitative PCR, Cytometric Bead Array, western blotting, etc...
April 26, 2023: Clinical Journal of the American Society of Nephrology: CJASN