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目的探讨早期B细胞因子1(EBF1)基因rs3843489单核苷酸多态性(SNP)与中国汉族人群原发性干燥综合征(pSS)的相关性。方法用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术对533例pSS患者和该563例健康人EBF1基因的rs3843489位点分型,用ELISA法检测抗SSA、SSB抗体,同时结合高球蛋白血症的临床资料,分析位点与疾病及其血清学检测指标和临床表型的相关性。结果 EBF1基因rs3843489位点的等位基因、基因型频率在pSS组与健康对照组间差异无统计学意义(χ2=1.16,1.29,P均>0.05);在3个遗传模型中,位点在两组间差异仍无统计学意义(χ2=1.20,0.15,0.01,P均>0.05);rs3843489位点在两组患者抗SSA、SSB抗体和高球蛋白血症中的分布差异均无统计学意义(P>0.05)。结论EBF1基因rs3843489位点多态性可能与中国汉族人群pSS的易感性不相关。
Objective To investigate the relationship between rs3843489 SNP of early B cell factor 1 (EBF1) gene and primary sjogren’s syndrome (pSS) in Chinese Han population. Methods The rs3843489 of EBV1 gene in 533 pSS patients and 563 healthy controls was genotyped by matrix assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF-MS). Anti-SSA and SSB antibodies were detected by ELISA The clinical data of hypergammaglobulinemia were analyzed to find the correlation between the loci and the disease and its serological parameters and clinical phenotypes. Results There was no significant difference in allele and genotype frequencies of rs3843489 in EBF1 gene between the pSS group and healthy controls (χ2 = 1.16, 1.29, P> 0.05). Among the 3 genetic models, There was no significant difference between the two groups (χ2 = 1.20,0.15,0.01, P> 0.05). There was no significant difference in the distribution of rs3843489 between anti-SSA, SSB antibody and hypergammaglobulinemia Significance (P> 0.05). Conclusion The rs3843489 polymorphism of EBF1 gene may not be related to the susceptibility of pSS in Chinese Han population.