Objective: To observe the association between systemic lupus erythematosus (SLE) and gene polymorphisms of OLF-1/EBF associated zinc finger protein(OAZ).
Methods: Verified single nucleotide polymorphisms (SNPs) with relatively high heterozygosity were chosen for allelic discrimination in 244 Chinese SLE pedigrees. Then transmissions of single SNP, and haplotypes were calculated by Genehunter software..OAZ mRNA level was also measured for comparing gene expression in patients of different haplotypes.
Results: Genotyping of five SNPs within OAZ gene introns indicated there was no preferential transmission of single SNP, and haplotype T-A-G-G for rs1344531-rs2080353-rs933564-rs1345431 showed only weak linkage with the disease (P=0.04). However, haplotypes combining SNPs and the SLE-associated D16S517 allele showed significant association with SLE susceptibility (for rs933564-d16s517 G-271bp t:non-t=93:29 P<0.000001, for rs2080353-rs933564-d16s517 A-G-271bp t:non-t=88:35 P=0.000002). The haplotype A-G-271bp-G of Rs2080353-rs933564-D16s517-rs1345431 was also transmitted to patients preferentially (P=0.0084) and it showed a tendency to affect gene expression.
Conclusion: Special polymorphism haplotype of OAZ gene is associated with Chinese SLE. OAZ may suggest a new pathway for lupus.