Association of lnc5150 gene polymorphisms with systemic lupus erythematosus
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摘要: 目的 探讨汉族人群中lnc5150(ENST00000425150)基因遗传多态性与系统性红斑狼疮(systemic lupus erythematous,SLE)易感性的关系。方法 采用病例对照设计,纳入658例SLE病例及843例健康对照,运用TaqMan分型技术进行基因分型,分析lnc5150 rs144047453和rs141561256基因型、等位基因频率、显隐性模型,同时分析两位点与临床症状的关系。结果 病例组和健康对照组rs144047453和rs141561256基因型分布在性别、年龄调整前后差异均无统计学意义,显隐性模型分析结果差异均无统计学意义(均有P>0.05)。按临床症状有无分亚组分析发现,rs141561256的AA、AG和GG三种基因型3及A、G两种等位基因在SLE伴狼疮肾炎(lupus nephritis,LN)者和不伴LN者中分布差异均有统计学意义(均有P<0.05)。结论 lnc5150 rs144047453和rs141561256多态性与SLE易感性无关,rs141561256基因多态性可能与SLE患者肾脏累及有关。Abstract: Objective To explore the gene polymorphisms of lnc5150 (ENST00000425150) in association with systemic lupus erythematosus (SLE) in a HAN population. Methods A case-control study was performed by recruiting 658 SLE cases and 843 healthy controls. Two lnc5150 single nucleotide polymorphisms (SNPs) (rs144047453, rs141561256) were genotyped using TaqMan genotyping assays on Fluidigm 192.24 system. The distribution of genotype and allele frequencies of two SNPs were detected, besides those, the genotype effects of dominant and recessive models were also analysed. As well, the association between SNPs and clinical manifestations in SLE patients were analysed. Results No significant differences were detected for the distribution of allele and genotype, and we failed to find any significant results about dominant and recessive models of two SNPs (all P>0.05). However, further analysis in SLE patients revealed that the AA genotypes and A allele of the lnc5150 rs141561256 polymorphism were nominally significantly higher in SLE patients with lupus nephritis (LN) (all P<0.05). Conclusions Lnc5150 SNPs are not associated with genetic susceptibility to SLE, but they might contribute to some clinical phenotype of SLE.
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