[OAZ gene polymorphism in Chinese patients with systemic lupus erythematosus].
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.


CONCLUSIONS
Special polymorphism haplotype of OAZ gene is associated with Chinese SLE. OAZ may suggest a new pathway for lupus.
Department of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai, 200001 P.R.China.
Xue-bing
XB
Feng
Nan
N
Shen
Wei-qiong
WQ
Luo
Li-hui
LH
Zhang
Jie
J
Qian
Li
L
Sun
Shun-le
SL
Chen
D044466:Asian People / Q000235:genetics; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011506:Proteins
D004268:DNA-Binding Proteins; D011506:Proteins; C031017:ornithine decarboxylase antizyme