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To explore the relationship among patient-specific SNPs from one SLE family, lupus susceptibility, and laboratory indicators in a western Chinese population. We previously performed whole exome sequencing in one SLE family and screened 5 SLE candidate SNPs. In this study, we verified them in 634 SLE patients and 400 healthy controls and analyzed the relationship between SNPs and laboratory indicators. Among the 5 candidate SNPs, PHLDB1 rs7389T/G (dominant model, OR = 0.627, 95%CI = 0.480-0.820, P = 0.001) and WDFY4 rs7097397G/A (dominant model, OR = 0.653, 95%CI = 0.438-0.973, P = 0.035) were associated with SLE susceptibility. In addition, the G allele of rs7389 was related to an increased level of TNF-α (q = 0.013). The A allele of rs7097397 was related to reduced levels of IL-1β (q = 0.033) and IL-6 (q = 0.039) and high positive rate of antinuclear antibodies (q = 0.021). Our study indicated that both the rs7389T/G and rs7097397G/A polymorphisms were related to SLE susceptibility in western China. rs7389T/G was related to increased TNF-α content, while rs7097397G/A was associated with reduced IL-1β and IL-6 content and increased antinuclear antibody positive rate. Key Points • The G allele of rs7389 was related to reduced susceptibility to SLE. • The A allele of rs7097397 was associated with reduced susceptibility to SLE. • The G allele of rs7389 was related to increased levels of TNF-α. • The A allele of rs7097397 was related to decreased concentrations of IL-1β and IL-6, as well as an increased positive rate of antinuclear antibody. © 2022. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).


Jianzhao Zhai, Ping Zhang, Naidan Zhang, Yubin Luo, Yongkang Wu. Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus. Clinical rheumatology. 2022 Jul;41(7):2035-2042

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PMID: 35188604

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