斑秃与CTLA-4基因外显子1 A/G49多态性研究

Study of the A/G49 Polymorphism in Exon 1 of the CTLA-4 Gene in Alopecia Areata

目的探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因外显子1第49位点A/G多态性是否与斑秃的遗传易感性有关。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对56例斑秃患者和124例正常对照者的CTLA-4基因外显子1的第49位点进行基因分型。结果斑秃患者CTLA-4基因第一外显子第49位点基因型频率与正常对照组比较差异无统计学意义(χ2=1.768,P>0.05);斑秃患者CTLA-4基因第一外显子第49位点等位基因频率与正常对照组比较差异无统计学意义(χ2=1.676,P>0.05)。结论CTLA-4基因第一外显子第49位碱基A→G多态性与斑秃的发病可能无相关性。

Objective To investigate whether the A/G49 polymorphism in exon 1 of the CTLA - 4 gene is associated with the genetic susceptibility to the development of Alopecia Areata in the Chinese population. Methods The A/G transtion polymorphism at position 49 in exon 1 of the CTLA -4 gene was determined by the po｜ymerase chain reaction restriction fragment length polymorphism analysis （ PCR - RFLP） in 56 patients with Alopecia Areata and 124 healthy control subjects. Results The genotype frequencies of the A/G49 polymorphism in exon 1 of the CTLA -4 gene in control subjects and alopecia areata patients were 17.7% vs25.0% （A/A）, 51.6% vs51.8% （A/G） and30.7% vs23.2% （G/G）, respectively（chi2=1.768, 2degrees of freedom, P 〉0.05）. In addition, no highly significant increase in the frequency of the G allele was seen in alopecia areata patients compared with controls （49.1% vs 56. 5%, respectively; chi2 = 1. 676, P 〉0. 05）. The results, at least in the Chinese population of Hebei province, showed that there were no statistically significant differences in genotype or allele frequencies between alopecia areata patients and control subjects in our study. Conclusion The data of this research suggested that the A/G49 polymorphism in exon 1 of the CTLA -4 gene may not play a part in the genetic susceptibility to the.development of AA.