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目的探讨IL-1β和DVWA基因3个SNP位点多态性与大骨节病的关联关系。方法选取大骨节病病区的105例大骨节病患者和98例健康人群作为病例组和对照组,提取研究群体外周血基因组DNA,用限制性核酸酶切方法对所选两基因的SNP位点进行基因分型,计算相应人群中3个位点的基因型频率、单位点等位基因频率,比较各组间基因型频率、单位点等位基因频率的差异。结果 rs16944(IL-1β)位点基因型频率在病例组与对照组人群中分布差异有统计学意义(χ2=24.28,P<0.001),该位点等位基因频率在病例组与对照组间的差异也有统计学意义(χ2=5.683,P=0.0171)。rs4685241和rs1143627在基因型频率、单位点等位基因频率及单倍型重构分析中两组人群的分布差异无统计学意义。结论 rs16944(IL-1β)与大骨节病存在相关性,可能是大骨节病的致病位点之一。
Objective To investigate the association between polymorphisms of IL-1β and DVWA gene and Kashin-Beck disease. Methods A total of 105 patients with Kashin-Beck disease and 98 healthy people from Kashin-Beck disease area were enrolled as case group and control group. The genomic DNA of the peripheral blood was extracted from the study population. The SNPs of two selected genes were determined by restriction endonuclease digestion Genotypes were calculated and the genotype frequency and haplotype frequency of three loci in the corresponding population were calculated. The differences in genotype frequency and allele frequency among each group were compared. Results The frequency of rs16944 (IL-1β) genotype was significantly different between the case group and the control group (χ2 = 24.28, P <0.001). The allele frequency of rs16944 The difference was also statistically significant (χ2 = 5.683, P = 0.0171). rs4685241 and rs1143627 in the genotype frequency, single allele frequency and haplotype reconstruction analysis of the distribution of the two groups of people no significant difference. Conclusion rs16944 (IL-1β) is associated with Kashin-Beck disease and may be one of the pathogenic sites of Kashin-Beck disease.