摘要目的 探讨补体B因子(CFB)基因的遗传多态性与IgA肾病发病和预后的关联性.方法 收集463例有长期随访资料的中国北方汉族IgA肾病患者和296例地域、年龄和性别匹配的健康对照人群的外周血,提取DNA后PCR法扩增基因组B因子片段,双脱氧核苷酸测序法对B因子中的4个单核苷酸多态性(SNP)位点rs4151667、rs12614、rs641153、rs 117314762进行基因分型.比较4个SNP位点的等位基因和基因型频率在IgA肾病组患者和健康对照组间的差异,分析IgA肾病患者组SNP位点与临床、病理表现以及预后的关系.结果 CFB基因中rs117314762位点的G等位基因和GG基因型频率在IgA肾病患者中显著高于健康对照组(P＜0.01).CFB基因rs4151667、rs12614和rs641153位点等位基因及基因型频率在IgA肾病患者和健康对照组组间差异无统计学意义.在IgA肾病患者中,未发现CFB基因的4个SNP位点与临床、病理表现以及预后有关联关系.结论 补体B因子基因rs117314762位点与IgA肾病发病的遗传易感性相关联,提示补体B因子或其所在区段可能存在与IgA肾病发病有关联的功能变异.

abstractsObjective To investigate the genetic association of complement factor B (CFB)gene polymorphisms with the susceptibility and prognosis of IgA nephropathy (IgAN).Methods Four hundreds and sixty-three Northern Han Chinese patients with IgAN and two hundreds and ninty-six geographically and ethnic matched healthy volunteers were recruited.Peripheral blood was collected from recruited individuals for DNA extracting.After amplified by plymerase chain reaction (PCR),genotyping of the four single nucleotide polymorphisms (SNPs) in CFB gene,which were rs4151667,rs12614,rs641153 and rs117314762,were performed by sequencing.Differences of allele and genotype frequencies were analyzed between IgAN patients and healthy controls.Moreover,the association between these SNPs and disease clinical manifestation,pathological features and long term renal outcome in IgAN patients were further analyzed.Results The G allele and GG genotype frequencies of rs117314762 in CFB gene were significantly higher in IgAN patients than that in healthy controls.No difference in allele and genotype frequencies of rs4151667,rs12614,rs641153 between IgAN patients and healthy controls was observed.Furthermore,no association was found between these SNPs in CFB gene and clinical manifestation,pathological features and long term renal outcome of IgAN.Conclusion Association between rs117314762 in CFB gene and IgAN susceptibility suggests that there may be functional variants in CFB gene or its linked genetic region,which needs further exploration.