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过氧化氢酶核苷酸多态性与氟骨症相关性研究 被引量:2

The association between single nucleotide polymorphiasms in catalase gene and skeletal fluorosis
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摘要 目的探讨过氧化氢酶(catalase,CAT)rs 2300182和rs 769217两个位点单核苷酸多态性与氟骨症的相关性。方法在贵州省织金县收集氟骨症患者,病例组和对照组各195人,通过调查问卷收集研究对象饮食和氟中毒相关信息,通过RT-PCR方法对CATrs 2300182和rs 769217两个位点单核苷酸多态性测序分析。结果病例组和对照组CATrs 2300182和rs 769217基因型频率分布差异无统计学意义(χ2=2.52、0.581,P=0.282、0.747),但多因素分析显示CATrs2300182位点显性模式和累加模式与氟骨症有相关性,rs2300182AA+AT基因型携带者较TT基因型携带者氟骨症风险降低81%(OR=0.19,95%CI:0.04~0.91);AT型携带者患氟骨症风险是TT携带者的0.14倍(OR=0.14,95%CI:0.03~0.72);多因素分析仍未发现rs769217位点不同遗传模式与氟骨症有关(P>0.05)。分层分析显示rs2300182位点基因多态性与性别、吸烟和膳食钙摄入情况存在交互作用(P-交互作用<0.05)。未显示rs769217位点单核苷酸多态性与环境因素存在交互作用(P>0.05)。结论 CATrs2300182单核苷酸多态性可能与氟骨症有关,性别及膳食钙摄入情况修饰该基因多态性与氟骨症的相关性。 Objective To elucidate the association of single nucleotide polymorphisms of catalase(CAT)gene with skeletal fluorosis. Methods 195 patients with skeletal fluorosis and 195 healthy controls were recruited from Zhijin County of Guizhou Province and a questionnaire survey was conducted to collect basic information of subjects.Genotype of CATrs 2300182 and rs 769217 was determined by Real-time PCR and sequencing.Results Although the difference of genotype frequency of CATrs 2300182 and rs 769217 were not significant between cases and controls(χ^2=2.52,0.581,P=0.282,0.747),the multivariate logistic regression analysis showed that the dominant patterns and additive patterns of rs 2300182 were associated with skeletal fluorosis after adjustment for potential confounders.The risk of skeletal fluorosis of subjects with rs 2300182AA+AT significantly decreased by 81%compared to the subjects with TT type(OR=0.19,95%CI:0.04-0.91).The risk of skeletal fluorosis for subjects with rs 2300182 AT was 0.14 times higher than that of those with TT genotype(OR=0.14,95%CI:0.03-0.72).Stratified analysis showed that there were interactions between rs 2300182 polymorphism and gender,smoking and dietary intake of calcium related to skeletal fluorosis(P<0.05).No interaction was observed between rs 769217 and environmental factors(P>0.05). Conclusions The CATrs 2300182 polymorphism is associated with skeletal fluorosis which is modified by gender and dietary intake of calcium.
作者 陶娜 杨胜 赵训 张元梅 刘俊 TAO Na;YANG Sheng;ZHAO Xun;ZHANG Yuan-mei;LIU Jun(Department of Pharmacy,Affiliated Hospital of Zunyi Medical College,Zunyi,Guizhou 563000,China)
出处 《中国预防医学杂志》 CAS CSCD 2019年第1期52-57,共6页 Chinese Preventive Medicine
基金 国家自然科学基金资助项目(81460497)
关键词 过氧化氢酶 基因 单核苷酸多态性 氟骨症 病例对照研究 交互作用 遗传模式 Catalase Gene Single nucleotide polymorphism Skeletal fluorosis Case-control study Interaction Genetic model
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