Jianzhao Zhai1, Ping Zhang1, Naidan Zhang1, Yubin Luo2, Yongkang Wu3. 1. West China School of Medicine/Department of Laboratory Medicine, West China Hospital of Sichuan University, Chengdu, China. 2. Department of Rheumatology & Immunology, West China Hospital of Sichuan University, Chengdu, China. 3. Outpatient Department, West China Hospital of Sichuan University, Chengdu, China. vipwyk@163.com.
Abstract
OBJECTIVES: To explore the relationship among patient-specific SNPs from one SLE family, lupus susceptibility, and laboratory indicators in a western Chinese population. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
OBJECTIVES: To explore the relationship among patient-specific SNPs from one SLE family, lupus susceptibility, and laboratory indicators in a western Chinese population. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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