PDF(Pubmed)
Abstract：
BACKGROUND: Osteoporosis (OP) is the most prevalent metabolic bone disease. Numerous genetic loci are strongly related to OP. AXIN1 is a significant gene that serves an important role in the WNT signaling pathway. The aim of this study was to explore the association between the AXIN1 genetic polymorphism (rs9921222) and OP susceptibility.
METHODS: A total of 101 subjects were enrolled in the study (50 patients with OP and 51 healthy individuals). Genomic DNA was extracted from whole blood using the QIAamp DNA Blood Mini Kit, and the AXIN1 gene polymorphism (rs9921222) was genotyped by TaqMan allelic discrimination assays. A logistic regression analysis was used to assess the association between genotypes and OP risk.
RESULTS: We found that AXIN1 rs9921222 had a significant association with the susceptibility of OP under the homozygote model (TT vs. CC: OR = 16.6, CI = 2.03-136.4, p = 0.009), (CT vs. CC: OR = 6.3, CI = 1.23-31.8, p = 0.027), recessive genetic model (TT vs.TC-CC: OR = 13.6, CI = 1.7-110.4, p = 0.015), and the dominant model (TT-TC vs. CC: OR = 9.7, CI = 2.6-36.3, p < 0.001). Allele T was significantly associated with OP risk (T vs. C: OR = 10.5, CI = 3.5-31.15, p = 0.001). There was a statistically significant difference between genotypes in mean platelet volume (p = 0.004), and platelet distribution width (p = 0.025). In addition, lumbar spine bone density, and femur neck bone density were significantly different between genotypes (p < 0.001).
CONCLUSIONS: AXIN1 rs9921222 was associated with OP susceptibility in the Egyptian population and should be considered a potential determinant risk for OP.
METHODS: A total of 101 subjects were enrolled in the study (50 patients with OP and 51 healthy individuals). Genomic DNA was extracted from whole blood using the QIAamp DNA Blood Mini Kit, and the AXIN1 gene polymorphism (rs9921222) was genotyped by TaqMan allelic discrimination assays. A logistic regression analysis was used to assess the association between genotypes and OP risk.
RESULTS: We found that AXIN1 rs9921222 had a significant association with the susceptibility of OP under the homozygote model (TT vs. CC: OR = 16.6, CI = 2.03-136.4, p = 0.009), (CT vs. CC: OR = 6.3, CI = 1.23-31.8, p = 0.027), recessive genetic model (TT vs.TC-CC: OR = 13.6, CI = 1.7-110.4, p = 0.015), and the dominant model (TT-TC vs. CC: OR = 9.7, CI = 2.6-36.3, p < 0.001). Allele T was significantly associated with OP risk (T vs. C: OR = 10.5, CI = 3.5-31.15, p = 0.001). There was a statistically significant difference between genotypes in mean platelet volume (p = 0.004), and platelet distribution width (p = 0.025). In addition, lumbar spine bone density, and femur neck bone density were significantly different between genotypes (p < 0.001).
CONCLUSIONS: AXIN1 rs9921222 was associated with OP susceptibility in the Egyptian population and should be considered a potential determinant risk for OP.
摘要：
背景：骨质疏松症（OP）是最常见的代谢性骨病。许多遗传基因座与OP密切相关。AXIN1是在WNT信号通路中起重要作用的重要基因。这项研究的目的是探讨AXIN1遗传多态性（rs9921222）与OP易感性之间的关联。
方法：本研究共纳入101名受试者（50名OP患者和51名健康个体）。使用QIAampDNA血液迷你试剂盒从全血中提取基因组DNA，AXIN1基因多态性(rs9921222)通过TaqMan等位基因鉴别分析进行基因分型。使用逻辑回归分析评估基因型与OP风险之间的关联。
结果：我们发现，在纯合子模型下，AXIN1rs9921222与OP的易感性有显着关联（TTvs.CC：OR=16.6，CI=2.03-136.4，p=0.009），（CTvs.CC：OR=6.3，CI=1.23-31.8，p=0.027），隐性遗传模型(TTvs.TC-CC：OR=13.6，CI=1.7-110.4，p=0.015），和主导模型(TT-TC与CC：OR=9.7，CI=2.6-36.3，p<0.001）。等位基因T与OP风险显著相关(Tvs.C:OR=10.5,CI=3.5-31.15,p=0.001)。基因型之间的平均血小板体积差异有统计学意义（p=0.004），和血小板分布宽度（p=0.025）。此外,腰椎骨密度，和股骨颈骨密度在基因型之间存在显着差异（p<0.001）。
结论：AXIN1rs9921222与埃及人群的OP易感性相关，应被视为OP的潜在危险因素。
方法：本研究共纳入101名受试者（50名OP患者和51名健康个体）。使用QIAampDNA血液迷你试剂盒从全血中提取基因组DNA，AXIN1基因多态性(rs9921222)通过TaqMan等位基因鉴别分析进行基因分型。使用逻辑回归分析评估基因型与OP风险之间的关联。
结果：我们发现，在纯合子模型下，AXIN1rs9921222与OP的易感性有显着关联（TTvs.CC：OR=16.6，CI=2.03-136.4，p=0.009），（CTvs.CC：OR=6.3，CI=1.23-31.8，p=0.027），隐性遗传模型(TTvs.TC-CC：OR=13.6，CI=1.7-110.4，p=0.015），和主导模型(TT-TC与CC：OR=9.7，CI=2.6-36.3，p<0.001）。等位基因T与OP风险显著相关(Tvs.C:OR=10.5,CI=3.5-31.15,p=0.001)。基因型之间的平均血小板体积差异有统计学意义（p=0.004），和血小板分布宽度（p=0.025）。此外,腰椎骨密度，和股骨颈骨密度在基因型之间存在显着差异（p<0.001）。
结论：AXIN1rs9921222与埃及人群的OP易感性相关，应被视为OP的潜在危险因素。
