Association of IKZF3 Gene Polymorphism with Systemic Lupus Erythematosus in the GuiZhou Han Population

Yang Ying¹, Yang Ying¹, Chen Lin¹, Liang Han Yue², Chen Xiaohong^{1, *}, Liu Jun³

¹Department of Dermatology, Affiliated Hospital of Zunyi Medical University, Zunyi City, China - ²Department of Dermatology, Guizhou Moutai hospital, Renhuai, China - ³Department of Preventive Medicine Zunyi Medical University, Zunyi City, China

Introduction: Genetic factors play an important role in the pathogenesis of SLE, several loci of the IKZF3 gene have a certain correlation with SLE. However, single nucleotide polymorphisms (SNP) have ethnic and regional differences, to investigate the correlation between zinc finger 3 gene polymorphism and patients with systemic lupus erythematosus (SLE) in the Guizhou Han population was our main aim. 

Materials and methods: A total of 213 SLE patients and 187 healthy persons as control group in the Guizhou Han population, were registered to detect the SNP of the rs114509391, rs907091 and rs907092 loci in the IKZF3 gene by multiple SNaPshot techniques. Then genotype frequency, allele frequency, linkage disequilibrium and haplotype analysis were compared between the SLE group and the healthy control group. Statistical methods were performed using unconditional logistic regression analysis. 

Results: The genotype and allele frequencies of the three SNPs (rs114509391, rs907091, rs907092) were not significantly different between the SLE group and the healthy control group (P>0.05). There were no difference in genotype frequencies between the SLE group and the healthy control group, in the dominant, recessive or cumulative genetic models of the three SNPs (P>0.05). Hierarchical analysis indicated that the C allele of rs114509391 may be a protective factor for light-nonsensitive SLE (P<0.05). No correlation was found between the rs907091 and rs907092 loci and the clinical phenotypes of SLE (P>0.05). Linkage disequilibrium analysis revealed linkage disequilibrium among the three SNPs. There were no significant differences in the distribution of six haplotypes in the SLE group and the healthy control group, and each haplotype was not associated with the risk of SLE (P>0.05). 

Conclusions: The C allele of rs114509391 may be a protective factor for light-nonsensitive SLE. the specific protection mechanism needs to be further studied in large samples in the future.