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Updated: Sep 14, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The relationship between Interleukin 1 beta single nucleotide polymorphisms and systemic lupus erythematosus among
Mao Liu1, Xiru Ling2, Zhenboyang Tang2
1Department of Rheumatology and Immunology, Chengdu Second People's Hospital, Chengdu 641000, PR China; Department of Rheumatology and Immunology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, PR China.
Objective:
Systemic lupus erythematosus (SLE) is a typical autoimmune disease whose etiology is related to genetic factors. This study is designed to evaluate the association between Single Nucleotide Polymorphisms (SNPs) of the Interleukin 1 beta (IL-1β) gene (rs16944, rs1143627, rs1143634) and SLE susceptibility and clinical characteristics in the Chinese Han population.
Methods:
This case-control study recruited 155 SLE patients and 140 controls. DNA was extracted from the venous blood of all subjects and genotyped using PCR and mass spectrometry.
Results:
Individuals with at least one mutant gene G (AG+GG genotype) at rs16944, at least one mutant gene A (AG+AA genotype) at rs1143627 and the AG Genotype at rs1143634 were associated with a lower risk of SLE compared to healthy controls(P = 0.009; P = 0.005; P = 0.016). The AG genotype at rs16944 increased the risk of anti-SSA(Ro) antibody positivity and thrombocytopenia (P = 0.033; P = 0.018), while the G allele decreased the risk of lupus nephritis (P = 0.040). For rs1143627, the A allele was linked with an increased risk of LA2 positivity for lupus anticoagulant (P = 0.041) and a lower risk of lupus nephritis (P = 0.044), and the AG genotype was associated with an increased risk of thrombocytopenia (P = 0.009). There was no correlation between rs1143634 and clinical features of SLE.
Conclusion:
In conclusion, IL-1β gene polymorphisms are related to SLE susceptibility and clinical features in the Chinese population.
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