【摘 要】
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Objective The aim of this study was to examine whether the ETS1 single nucleotide polymorphism (SNP) rs1128334 plays a role in systemic lupus erythematosus (SLE) susceptibility in northern Chinese pop
【机 构】
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250012 山东大学实验畸形学教育部重点实验室,医学院医学遗传学研究所
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Objective The aim of this study was to examine whether the ETS1 single nucleotide polymorphism (SNP) rs1128334 plays a role in systemic lupus erythematosus (SLE) susceptibility in northern Chinese population.Methods We genotyped rs1128334 in 230 unrelated patients with SLE and 432 healthy individuals with no history of autoimmune disease.Genotyping was performed with a TaqMan SNP genotyping assay and the data were analysed using PLINK1.07 software.Allelic specific expression was determined using real time RT-PCR.Results A statistically significant difference was observed in the distribution of the rs1128334 genotypes between cases and controls (p=0.041).Comparing the distribution of rs1128334 alleles between the groups studied, a greater difference was found (odds ratio (OR) 1.824, P< 0.0001).ETS1 gene expression level was significantly different between case and control groups.The risk allele A was associated with decreased expression of ETS1 in leukocytes (all p<0.05).Conclusions Our replication study suggests that rs1128334 in ETS1 is significantly associated with risk of SLE and gene expression in a northem Chinese Han population.
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