白细胞介素-1F7基因单核苷酸多态性对强直性脊柱炎易感性与病情的影响

目的 探讨白细胞介素(IL)-1F7基因rs3811047位点单核苷酸多态性(SNP)对强直性脊柱炎(AS)易感性和临床表现型的影响.方法 收集AS患者158例和同期健康献血人群181名,采用连接酶检测反应(LDR-PCR)方法检测IL-1F7基因rs3811047位点SNP,分析其等位基因频率及基因型频率在AS和对照组中的分布,并比较不同基因型AS患者间临床表现型的差别.结果 AS患者和对照人群中rs3811047位点A等位基因频率(12.03%,17.68%)和G等位基因频率(87.97%,82.32%)的分布差异有统计学意义(x2=4.2204,P=0.0399);AA,AG,GG基因型频率在AS中分别为0,24.05%,75.95%,与对照组分布(2.76%,29.83%,67.41%)相比,差异亦有统计学意义(x2=6.2675,P=0.043).AG基因型的AS患者中人类白细胞抗原(HLA)-B27阳性率为70.27%(26/37),明显低于GG基因型AS中HLA-B27的阳性率94.23%(98/104),差异有统计学意义(x2=2.168,P=0.030);其红细胞沉降率和C反应蛋白水平明显亦低于GG基因型组(t=2.971,P=0.013;t=3.300,P=0.001).结论 安徽籍汉族人群AS易感性与IL-1F7基因rs3811047位点SNP有关,其基因型对AS的临床表现型有影响,携带A等位基因患者的炎症表现轻于不携带A等位基因的患者.

Study of the interleukin-1F7 gene single nucleotide polymorphism in patients with ankylosing spondylitis

Objective To investigate the association between interleukin(IL)-1F7 gene (rs3811047)single nucleotide polymorphism (SNP) and ankylosing spondylitis (AS). Methods SNP of IL-1F7 gene (rs3811047) was analyzed in 158 patients with AS and 181 healthy controls by ligase detection reaction based on high temperature ligase (LDR-PCR). The distribution of IL-1 F7 (rs3811047 ) genotypes and allele frequencies were detected between the two groups. Results Significant differences were found in the distribution of IL-1F7(rs3811047 ) genotypes and allele frequencies between AS patients and healthy controls. The frequency of A allele of IL-1F7 gene at positions rs3811047 was 12.03% and 17.68% in AS group and the control group,and the frequency of G allele was 87.97%, 82.32%, respectively (x2=4.2204, P=0.0399). The percentage of AA, AG and GG genotype was 0, 24.05%, 75.95% in AS group, which differed from the controls group (2.76%, 29.83%, 67.41% ). The difference had remarkable statistical significance (x2=6.2675, P=0.043).The positive rate of HLA-B27 in AS patients which represented as AG genotype was 70.27% (26/37),remarkably lower than that in AS patients which represented as GG genotype 94.23% (98/104), the difference was statistically significant (x2=2.168, P=0.030), erythrocyte sedimentation rate and C reactive protein levels were conspicuously lower than that in GG genotype (t=2.971, P=0.013; t=3.300, P=0.001 ). Conclusion Our study suggests that the SNP (rs3811047) of IL-1F7 may be a susceptibile factor for AS in Anhui Han population, the genotype may influence the clinical phenotypes of AS.Patients who carry the A allele may have less inflammation than patients who do not carry the A allele.