EBF1基因多态性与中国汉族人群原发性干燥综合征的相关性

Association between EBF1gene polymorphism and primary Sjgren′s syndrome in Chinese Han population

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 association between single nucleotide polymorphism （SNP） rs3843489 of early B-cell factor 1 （ EBF1 ） and primary SjSgren＇s syndrome （pSS） in a Chinese HaM population. Methods SNP rs3843489 of EBF1 gene from 533 pa- tients with pSS and 563 healthy controls was genotyped using Matrix-assisted laser desorption/Ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The anti-SSA and anti-SSB autoantibodies were detected by ELISA. The associations of the polymorphism of rs3843489 with the clinical manifestation of disease, hypergammaglobulinemia and various serological markers were statistically ana- lyzed. Results No difference for the allelic and genotypic distributions of rs3843489 was found between pSS patients and controls （X2 = 1.16 and 1.29 respectively, both P 〉 0.05）. In three genetic models no significant difference for the frequencies of rs3843489 was found between the two groups （X2 = 1.20, 0.15, 0.01 respectively, all P 〉 0.05 ）. No evidence of association between rs3843489 variant and anti-SSA, -SSB antibody as well as hypergammaglobulinemia was detectable. Conclusion The rs3843489 polymorphism of EBF1 gene may be unrelated to pSS in Chinese HaM population.