摘要

Objective To explore the association between polymorphisms within cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter and systemic lupus erythematosus (SLE) phenotypes in Han nationality population in South of the Changjiang River. Methods One hundred and twenty female cases were enrolled with the aim of case only design, and the genotype was determined by PCR-RFLP. Then, we calculated xχ2 and ORs for related study. Results Analysis of association between the 2 SNPs and organ damage indicated no significant relationship (P>0.05). The -1722T/T genotype frequency in patients with positive anti-SSA was higher than that of patients with negative anti-SSA (P = 0.020, OR= 5.26, 95CI:1.30-21.32). The -318C/T and T/T combined group in patients with positive anti-RNP antibody had lower frequency than that of patients with negative anti-RNP antibody (P = 0.016, OR = 0.16, 95CI:0.04-0.71). Meanwhile, there was a linkage disequilibrium between the -1722T>C and -318>T, so we analyzed the association between haplotypes and clinical feathers. In patients with positive anti-SSA, there was a relative high proportion in T-C haplotype (P = 0.014, OR=1.90, 95CI: 1.14-3.18), and a less one in C-C haplotype (P = 0.028, OR = 0.55, 95CI:0.32-0.94). Patients with positive anti-RNP antibody was found to have a lower frequency of T-T haplotype compared to patients with negative anti-RNP antibody (P = 0.029, OR= 0.20, 95 CI: 0.05-0.85). Conclusions In Han nationality population in South of the Changjiang River,-1722T>C allele may play an important role in the production of anti-SSA, and - 318>T allele may play an important role in the production of anti-RNP antibody.

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