维生素D受体基因BsmI多态性与发育性髋关节发育不良的相关性研究

Association of vitamin D receptor gene bsmI polymorphism with developmental dysplasia of the hip

[目的]明确我国北方汉族人维生素D受体基因(vitamin dreceptor gene,VDR)BsmI位点多态性分布及与发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的相关性。[方法]采用PCR-测序的方法,对54个DDH患儿及55个正常儿的VDR基因BsmI位点进行分型。采用精确概率的x2检验,比较病例组及对照组中等位基因及基因型频率分布的差异。并把正常组与文献报道的不同人群该位点的多态性分布情况相比较,以了解VDR基因BsmI位点多态性在不同种族人群中的差异。[结果]VDR基因BsmI位点的基因型及等位基因频率分布,在DDH组与对照组之间均无明显的统计学差异(P值分别为0.527和0.428);我国北方汉族人该位点的基因型以GG为主,与美国人、澳洲人及法国人均存在明显的统计学差异(P<0.01)。[结论]VDR基因BsmI位点基因型分布存在人群差异;该位点多态性与我国北方汉族人DDH的发生可能无关。

[Objective]To investigate the relationship between Vitamin D receptor gene（VDR） BsmI polymorphism and developmental dysplasia of the hip（DDH） in North Chinese Han population,and compare the BsmI genotype distribution in different nationalities.[Method]Genotype of VDR gene BsmI was detected using sequence analysis in 54 DDH and 55 normal children.Fisher＇s exact test was used to compare the genotype distribution between DDH group and normal group.The genotype distribution of normal children was also compared with different nationalities.[Result]No significant difference was found when compared the genotype and allele frequency between normal and DDH group（P value,0.527 and 0.428,respectively）.However,the genotype distribution of normal children was significantly different from other nationalities（P0.01）.[Conclusion]The polymorphism of BsmI in VDR gene is various among populations.In North Chinese Han population,BsmI polymorphism in VDR gene may be not related to DDH,and other candidate gene or disease-associated polymorphism should be investigated.