低硒与大骨节病2号染色体可疑STR位点交互作用的研究

Association Analysis between Genetic Polymorphism of 14 STR Loci on Chromosome 2 and Kashin-Beck Disease

目的寻找大骨节病(KBD)2号染色体易感基因,探讨低硒与KBD易感基因的交互作用在KBD发病中的作用。方法采用荧光标记基因扫描方法,对14个STR基因位点在陕西KBD病区患者和病区内对照及非病区外对照人群中的多态性进行分析,找出KBD 2号染色体的易感基因。采用原子荧光光谱法测定病例组、内对照组、外对照组血清硒水平,比较各组血清硒水平的差异,用Logistic回归模型分析低硒与KBD可疑易感基因的交互作用。结果 D2S165与D2S2333两个位点在病例组、病区内对照组与非病区外对照组基因频率分布差异均有统计学意义(P<0.05)。病例组与内对照组的血清硒水平无差异,但均显著低于外对照组,未检出低硒和STR多态性位点之间的交互作用。结论病区人群仍处于低硒状态,但未发现二者的交互作用。

Objective To identify the genetic susceptibility to Kashin-Beck disease （KBD） and explore the interaction between low selenium （Se） and the susceptibility gene loci in KBD. Methods Blood samples were collected from unrelated individuals in Han population in Shaanx/Province including KBD patients, control subjects living in the KBD areas and individuals in the non-KBD areas. The serum concentration was measured by atomic fluorescence spectrometry. Differences in Se concentrations among cases and controls were exam- ined. The interaction between Se deficiency and the susceptibility loci was calculated using a binary logistic regression. Results There were significant differences in the allele frequencies in the D2S165 and D2S2333 locus among the KBD patient group, inner-control group and outer-control group （P 〈0.05）. There was no significant statistical interaction observed between Se deficiency and susceptibility loci. Conclusion The residents in the studied KBD areas keep a lower serum Se concentration, and there is no significant statistical interaction observed between Se deficiency and susceptibility loci.