Identification of genetic variants associated with lupus nephritis in a Taiwanese cohort through systematic genetic screening.

ABSTRACT: Lupus nephritis (LN) is a common manifestation of systemic lupus erythematosus (SLE), affecting about half of the patients. This research uses genotype-phenotype associations to identify genetic markers, enhancing our understanding of LN pathogenesis. This study used genotype-phenotype association to explore genetic variants linked to LN in a Taiwanese cohort from the Taiwan Precision Medicine Initiative (TPMI). Genotyping was performed on 244 SLE and 63 LN patients using the TPM array. Genomic DNA underwent quality control via the Axiom Analysis Suite. Chi-squared tests identified significant variants, which were annotated and assessed for functional impacts using the 1000 Genomes Project, gnomAD, enabling comprehensive genetic analysis. This study on a Taiwanese cohort (LN, SLE, LN/SLE)

SUBMITTER: Lee JC 

PROVIDER: S-EPMC12514177 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature