1. Mitochondrial DNA genetic variants are associated with systemic lupus erythematosus susceptibility, glucocorticoids efficacy and prognosis
- Author
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Jing Cai, Ying Teng, Fang Wang, Faming Pan, Yan-Feng Zou, Yu-Hua Wang, Hailiang Huang, Zhen Li, Lin-Lin Wang, Ting-Yu Zhang, Yang-Fan Chen, Mu Li, Sheng-Xiu Liu, Zi-Ye Yan, Hong Su, Zhou-Zhou Xu, Hai-Feng Pan, and Shuang Liu
- Subjects
Mitochondrial DNA ,business.industry ,Haplotype ,Genetic variants ,Disease ,Prognosis ,DNA, Mitochondrial ,Polymorphism, Single Nucleotide ,Haplogroup ,Rheumatology ,Recurrence ,Immunology ,Female patient ,Humans ,Lupus Erythematosus, Systemic ,Medicine ,Female ,Genetic Predisposition to Disease ,Pharmacology (medical) ,Relapse risk ,business ,Glucocorticoids ,Efficacy Study - Abstract
Objective To investigate the associations of mitochondrial DNA (mtDNA) genetic variants with SLE susceptibility, glucocorticoid (GC) efficacy and prognosis. Methods Our study was done in two stages. First, we performed whole mitochondrial genome sequencing in 100 patients and 100 controls to initially screen potential mtDNA variants associated with disease and GC efficacy. Then, we validated the results in an independent set of samples. In total, 605 SLE patients and 604 normal controls were included in our two-stage study. A two-stage efficacy study was conducted in 512 patients treated with GCs for 12 weeks. We also explored the association between mtDNA variants and SLE prognosis. Results In the combined sample, four mtDNA variants (A4833G, T5108C, G14569A, CA514-515-) were associated with SLE susceptibility (all PBH Conclusion We identified novel mtDNA genetic variants that were associated with SLE susceptibility, GC efficacy, and prognosis. Interactions between mtDNA variants and environmental factors were related to SLE risk and GC efficacy. Our findings provide important information for future understanding of the occurrence and development of SLE.
- Published
- 2021
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