维生素D受体基因多态性与白癜风的相关性研究

目的：探讨维生素D受体基因多态性与白癜风的相关性。方法：采用聚合酶链反应和限制性片段长度多态性方法，对749例白癜风患者和763例健康人的维生素D受体基因型进行分析。结果：白癜风患者维生素D受体BsmI、ApaI、TaqI位点基因型的分布与正常对照组相比有显著性差异，bb、aa、tt基因型在白癜风患者中频率较高，FokI位点基因型的分布与对照组无明显差异。单倍体型分析表明FokI位点和BsmI位点，BsmI位点和ApaI位点，BsmI和TaqI位点，ApaI位点和TaqI位点之间存在较强的连锁不平衡，白癜风患者中fbAT、FbAT和FbaT单倍体型的频率显著高于对照组。结论：维生素D受体基因多态性与白癜风有明显的相关性。携带维生素D受体基因纯合子bb、aa或tt基因型可能会增加对白癜风的易感性。

Study on the association between VDR polymorphism and vitiligo

Objective To investigate the association between VDR polymorphism and vitiligo. Methods VDR genotypes of 749 vitiligo patients and 763 healthy controls were tested by PCR-RFLP. Results The distribution of Bsml, ApaI and TaqI genotypes of VDR were different between vitiligo patients and healthy controls, the bb, aa and tt genotypes showed a higher frequently in vitiligo patients than controls, there was no different distribution of FokI between patients and controls. The haplotype analysis showed there were significant linkage disequilibrium between FokI and BsmI, BsmI and ApaI, BsmI and TaqI, and ApaI and TaqI.The frequencies of fbAT, FbAT and FbaT haplotypes were higher in vitiligo patients than in controls. Conclusion VDR polymorphism is association with vitiligo. The bb, aa or tt genotype will increase the susceptibility of vitiligo.