Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients. Issue 8 (17th July 2021) - Huang, Shunwei
Abstract: Background: Systemic lupus erythematosus is a heterogeneous autoimmune disease characterized by multi‐system injuries and overproduction of autoantibodies. There are many genetic studies on SLE, but no report has considered the relationship between cytoplasmic dynein and SLE susceptibility. Objectives: Our study intends to investigate whether DYNC1H1 gene SNP/CNV is related to SLE susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients. Methods: A total of 502 cases and 544 healthy controls were recruited into the case‐control study, and 472 subjects from the case group were followed up for 12 weeks to evaluate GCs efficacy, HRQOL, anxiety, and depression. Multiplex SNaPshot technique was applied to genotype the seven SNPs of DYNC1H1, and AccuCopy TM method was conducted to quantify the copy number of DYNC1H1. Anxiety and depression were evaluated using HAMA and HAMD‐24 scales, respectively. The SF‐36 scale was used to assess HRQOL. Results: The significant association between SNP rs1190606 and SLE susceptibility was displayed in the dominant model ( PBH = 0.004) as well as its allele model ( PBH = 0.004). We also found that SNP rs2273440 was related to photosensitization symptom in SLE patients ( PBH = 0.032). In the follow‐up study, SNP rs11160668 was connected with the improvement of BP in male patients ( PBH = 0.011). However, no association of DYNC1H1 gene with GCs efficacy, anxiety, and depression was found. No CNV in DYNC1H1 was detected. Conclusions: The study suggests that DYNC1H1 gene polymorphisms may have an effect on SLE susceptibility and BP improvement of HRQOL in Chinese SLE patients. Abstract : In allele analysis, the frequency of allele G of rs1190606 in SLE patients was significantly higher than that in controls (39.14% vs 31.89%; P = 5.30×10 ‐4, PBH = 0.004). In genetic polymorphism analysis, rs1190606 was associated with the susceptibility of SLE (dominant model: Padj = 5.75×10 ‐4, PBH = 0.004).