维生素D受体基因BsmI多态性与强直性脊柱炎的相关性研究

Relationship between vitamin D receptor gene BsmI polymorphism and ankylosing spondylitis

目的探讨维生素D受体基因BsmI多态性与强直性脊柱炎的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术,检测107例强直性脊柱炎患者(AS组)和166例健康体检者(对照组)维生素D受体BsmI基因型和等位基因的分布频率。结果维生素D受体BsmI基因型Bb和bb在AS组中的分布频率分别为22.4%和77.6%,在对照组中分别为7.8%和92.2%,两组之间的基因型频率分布有显著性差异(χ2=11.83,P<0.05),AS组与对照组均未检测到BB基因型;等位基因B和b的分布频率在AS组中分别为11.2%和88.8%,在对照组分别为3.9%和96.1%,两者比较差异有统计学意义(χ2=10.97,P<0.05)。结论维生素D受体BsmI基因多态性与AS有一定的相关性,Bb基因型可能增加AS的易感性。

Objective To investigate the association between vitamin D receptor（VDR） gene BsmI polymorphism and ankylosing spondylitis（AS） in Chinese Han patients. Methods Genomic DNA from 107 Chinese AS patients and 166 sex and ethnically malched controls were typed for VDR BsmI polymorphism by polymerase chain reaction restriction fragment length potymorphism （PCR-RFLP）. Results The VDR BsmI genotypes in the AS patients consisted of helerozygote Bb（22. 4%） and homozygote bb （77.6 % ）. while the VDR Bsml genotype in the controls were＇omposed of beterozygote Bb（7.8 % ） and homozygote bb（ 92.2 % ）. Significant difference was found in the distribution of VI）R Bsml genotype between these two groups（x^2 11.83,P〈0.0.5）. There was no BB genetype in both groups. The frequencies of VDR Bsml allele B and b in AS patients were 11.2% and 88.8% ,while they were 3. 9 % and 96.1 % in the controls. The frequency of VDR Bsml allele in AS patients was significantly increased,compared with thai in controls（x^2 = 10. 97,P〈0.05）. Conclusion There is an association between the VDR gene BsmI polymorphism and the susceptibility lo ankylosing spondylitis in Chinese Han population,and Bb genotypes increase the susceptibility to ankytosing spon dylitis,