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目的研究Ⅰ型干扰素受体基因内部的单核苷酸多态性(SNP)与中国人群狼疮肾炎发病的相关性。方法选择IFNAR1和IFNAR2内部的14个SNP标记在200个核心家系,537例系统性红斑狼疮(SLE)患者(203例狼疮肾炎患者和334例狼疮非肾炎患者)和252名正常人中进行等位基因分型,以Haploview软件分析SNP分布情况,并用FBAT软件做TDT分析。结果发现中国汉族人群中①IFNAR1-SNPrs2243594等位基因频率(G)在SLE患者(29.0%)和正常人(21.2%)中差异有统计学意义(P<0.01)。AA基因型的频率在SLE患者(50.3%)低于正常对照组(61.2%,P<0.05)。②IFNAR1-SNPrs2243594等位基因频率(G)在狼疮肾炎患者(35.5%)和正常人(21.2%)两组对象的差异有统计学意义(P<0.01)。AA基因型的频率在狼疮肾炎患者(39.1%)低于正常对照组(61.2%,P<0.01)。③IFNAR1含有rs2243594G等位基因的单倍型频率在SLE肾炎患者与正常人差异有统计学意义(P<0.05)。④rs2243594G等位基因在肾炎家系中有优势传递。结论IFNAR基因的变异可能在狼疮肾炎发病中发挥作用。
Objective To study the relationship between the single nucleotide polymorphism (SNP) of type Ⅰ interferon receptor gene and the incidence of lupus nephritis in Chinese population. Methods Fourteen SNP markers were selected from IFNAR1 and IFNAR2 alleles in 200 core families, 537 patients with systemic lupus erythematosus (203 patients with lupus nephritis and 334 patients with lupus nephritis) and 252 normal controls Genotyping, SNP distribution was analyzed by Haploview software and TDT analysis was done by FBAT software. The results showed that the frequency of allele (G) ofIFNAR1-SNPrs2243594 in Chinese Han population was significantly different between SLE patients (29.0%) and normal subjects (21.2%) (P <0.01). The frequency of AA genotype was lower in SLE patients (50.3%) than in normal controls (61.2%, P <0.05). ② The frequency of allele of IFNAR1-SNPrs2243594 (G) in the patients with lupus nephritis (35.5%) and normal subjects (21.2%) had significant difference (P <0.01). The frequency of AA genotype in patients with lupus nephritis (39.1%) was lower than that in the normal control group (61.2%, P <0.01). ③ The haplotype frequency of rs2243594G allele of IFNAR1 in SLE nephritis patients was significantly different from that of normal controls (P <0.05). Rs2243594G allele in the nephritis family has the advantage of transmission. Conclusion The variation of IFNAR gene may play a role in the pathogenesis of lupus nephritis.