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Updated: Mar 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Relationship between the IL12B (rs3212227) gene polymorphism and susceptibility to multiple autoimmune diseases: A
Jun Li1,2, Chao Zhang1,2, Jie-Bing Wang1,2
1a Department of Epidemiology and Biostatistics, School of Public Health , Anhui Medical University , Hefei , P.R. China and.
Objectives:
The purpose of this study was to evaluate whether a single-nucleotide polymorphism (SNP) IL12B 3(')UTR +1188A/C (rs3212227) confers susceptibility to several autoimmune diseases.
Methods:
A systematic literature search was conducted to identify relevant studies. Pooled odds ratio (OR) with 95% confidence interval (CI) was used to estimate the strength of association.
Results:
Twenty-five studies were included in the meta-analysis, which contained 9794 cases and 11,330 controls. Our result indicated that IL12B +1188A/C (rs3212227) polymorphism was associated with type-1 diabetes (T1D) in the dominant model (p = 0.008), and an increased risk was found in East Asians in the dominant model (p < 0.001). East Asians rheumatoid arthritis (RA) patients seemed to be at risk of allelic model (p = 0.011). As to Behcet's disease (BD), there was a risk in dominant model (p = 0.020) and positive associations of dominant model, allelic model in East Asians (p = 0.009; p < 0.001, respectively). But we failed to find any association between IL12B +1188A/C (rs3212227) polymorphism with Graves' disease (GD) and ankylosing spondylitis (AS).
Conclusions:
The present study suggests that the IL12B +1188A/C (rs3212227) polymorphism might be associated with genetic susceptibility to autoimmune diseases, such as T1D, RA, BD, but not GD and AS.
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