对氧磷酶1 rs662位点单核苷酸多态性与氟骨症关系的病例对照研究

Association between paraoxonase 1 rs662 single nucleotide polymorphism and skeletal fluorosis:a case control study

目的探讨对氧磷酶(PON)1rs662位点单核苷酸多态性与氟骨症是否存在关联。方法在贵州省毕节市织金县招募195例氟骨症患者为病例组,在上述地区招募195例无骨骼和牙齿相关疾病且居住时间超过10年的成年人作为对照组,采用调查问卷收集对象信息,通过TaqMan方法对PON1rs662位点单核苷酸多态性进行测序分析。结果病例组和对照组rs662位点基因型频率分布差异有统计学意义(P<0.05),单因素分析发现共显性模式、显性模式和累加模式与氟骨症有关,多因素校正后该关联仍然存在。rs662AA基因型携带者较GG基因型携带者氟骨症风险降低62%(OR=0.38,95%CI:0.15~0.95);GG+AG携带者患氟骨症风险是AA携带者的2.49倍(OR=2.49,95%CI:1.04~6.01);AG型携带者患氟骨症风险是AA携带者的2.59倍(OR=2.59,95%CI:1.05~6.40)。分层分析发现rs662位点单核苷酸多态性与民族和尿氟水平存在交互作用(P<0.05)。结论 PON1rs662单核苷酸多态性与氟骨症有关,且民族和氟暴露水平修饰该基因多态性与氟骨症的关联。

Objective To investigate whether the association between paraoxonase 1(PON1)rs662 single nucleotide polymorphism with skeletal fluorosis existing.Methods One hundred and ninety-five cases of fluorosis were recruited from Zhijin County of Bijie City of Guizhou Province as the case group,and 195 cases without bone-and teeth related diseases were recruited from this area as the control group.The information of subjects was collected by questionnaire and the PON1 rs662 locus single nucleotide polymorphism conducted the sequencing analysis by using the TaqMan method.Results The rs662 locus genotype frequency distribution had statistical difference between the case group and control group(P<0.05).The univariate analysis found that the co-dominant patterns,dominant patterns and cumulative patterns of PON1 rs662 were associated with skeletal fluorosis and this association still existed after multi-factor correction.The risk of skeletal fluorosis in the subjects carrying rs662 AA genotype was deceased by 62%compared with the subjects carrying rs662 GG genotype(OR=0.39,95%CI:0.15-0.95);the risk of skeletal fluorosis in the subjects with rs662 GG+AG was 2.49 folds of that in the subjects with AA genotype(OR=2.49,95%CI:1.04-6.01);the risk of skeletal fluorosis in the subjects with AG genotype was 2.59 folds of that in the subjects with AA genotype(95%CI:1.05-6.40).The stratification analysis found that rs662 locus single nucleotide polymorphism had the interaction effect with nationality and urinary fluorine level(P<0.05).Conclusion The rs662 single nucleotide polymorphism is associated with skeletal fluorosis,moreover the nationality and fluorine exposure level modify the association between this gene polymorphism with skeletal fluorosis.