Abstract
OBJECTIVE: To explore the relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and the risk of developing systemic lupus erythematosus (SLE). METHODS: A case-control study was conducted including 516 female SLE patients (SLE group) and 491 age-matched healthy females (control group) from August 2023 to August 2024. G6PD enzymatic activity was detected via the G6PD/6PGD ratio method, and G6PD gene mutations were identified by PCR combined with flow hybridization; 21 G6PD-deficient samples underwent whole-exome sequencing (WES) for genotype verification. The two groups were stratified by enzymatic status, and differences in enzymatic ratios, gene mutation rates and mutation types were compared using rank-sum test and Pearson's chi-square test with SPSS 25.0. RESULTS: The G6PD enzymatic deficiency rates were 9.69% (50/516) in the SLE group and 10.79% (53/491) in the control group (P > 0.05), with no significant differences in age or enzymatic ratios between groups (P > 0.05). Gene mutation rates showed no intergroup differences in either enzymatic deficiency (84.00% vs. 88.68%) or normal subgroups (8.37% vs. 10.05%, all P > 0.05). WES identified no novel variants, with c.1376G > T and c.1388G > A as the most common mutations and similar frequencies in both groups (P > 0.05). CONCLUSION: G6PD deficiency does not correlate with the risk of developing systemic lupus erythematosus. FUNDING PROJECT: Yangjiang High-level Key Medical and Health Research Project (2023001).