[Association between IKZF3 gene polymorphisms and systemic lupus erythematosus in Han ethnic group in southern China:...

To understand the association between IKZF3 gene polymorphism and the risk of systemic lupus erythematosus(SLE)in Han ethnic group in southern China.

A case-control study was conducted among 213 SLE patients and 234 healthy controls. Venous blood samples were collected from them to measure single nucleotide polymorphism(SNP)in IKZF3 by using the method of restriction fragment length polymorphism(PCR-RFLP). Multivariate logistic analysis and generalized multifactor dimensionality reduction(GMDR)method were used under multiple genetic models(additive, dominant, recessive), to analyze the association between IKZF3 and SLE susceptibility or different clinical features and gene-gene interactions. In addition, bioinformatics analysis was also conducted.

As for rs114509391, CA genotype might decrease the risk of SLE compared with AA genotype(OR=0.14, 95%CI: 0.03-0.56, P=0.006)and significant association was also observed under dominant model(OR=0.26, 95%CI: 0.09-0.81, P=0.02). Stratified analysis indicated that rs9635726 and rs9909593 were related to SLE onset. The study of clinical features showed that rs907091 was associated with both renal disorder(additive: OR=0.59, 95%CI: 0.35-0.98, P=0.043)and anti-SSB(dominant: OR=0.41, 95%CI: 0.18-0.96, P=0.040). rs9635726 GG and GA genotype might decrease the risk of anti-SSB compared with AA genotype(OR=0.37, 95%CI:0.16-0.88, P=0.025). In addition, bioinformatics analysis indicated that all the studied SNPs were functional.

IKZF3 rs114509391, rs9635726 and rs9909593 polymorphisms might be related to SLE susceptibility in Han ethnic group in southern China and rs9909593, rs907091 might be associated with renal disorder and anti-SSB.