摘要
目的观察成釉细胞蛋白（AMBN）基因多态性在重庆市燃煤型氟中毒人群中的分布，探讨AMBN基因多态性与氟斑牙的关系。方法采用病例对照研究，在重庆市巫山、奉节县2个燃煤型氟中毒病区抽取8～12岁氟斑牙患病儿童100例、成人30例作为病例组；分别抽取非氟斑牙患病8～12岁儿童100例、成人30例作为内对照组，另在渝北区（非病区）抽取50名儿童、30名成人作为外对照组。采集所有研究对象外周静脉血，提取DNA，采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法测定3组人群AMBN基因7号外显子（538540delGGA）、10号外显子（657A〉G）和13号外显子（986C〉T）位点基因型，观察并分析比较组间各基因型分布差异。结果病例及内、外对照组GGA／GGA基因频率分别为61．2％（74／121）、78．5％（102／130）和74．3％（52／70），GGA／-基因频率分别为24．0％（29／121）、15．4％（20／130）和22．9％（16／70），-／-（GGA完全缺失）基因频率分别为14．8％（18／121）、6．1％（8／130）和2．8％（2／70），各组间的差异有统计学意义（x，。=14．353，P=0．006）；病例及内、外对照组AA基因频率分别为86．8％（105／121）、93．1％（121／130）和91．4％（64／70），AG基因频率分别为13．2％（16／121）、6．9％（9／130）和8．6％（6／70），各组间差异元统计学意义（x^2=2．972，P〉O．05）；病例及内、外对照组CC基因频率分别为81．0％（98／121）、90．0％（117／130）和87．1％（61／70）；CT基因频率分别为19．0％（23／121）、10．O％（13／130）和12．9％（9／70），各组间差异无统计学意义（x^2=4．319，P〉O．05）。与两对照组相比，病例组的GGA／GGA基因型频率降低（岔值分别为8．957、3．405，P值均〈0．05），GGA完全缺失基因型频率增高（x^2值分别为5．134、6．833，P值均〈0．05）。单因素分析显示，携带-／-基因型的个体发生氟中毒的风险增高（病例组与内、外对照组比较，OR值分别为2．7、5．9，P值均〈0．05）。与内对照组比较，病例组CT基因型频率增高（x^2=4．139，P〈0．05）。病区携带CT基因型的个体发生氟中毒的风险增高（OR=2．1，P〈O．05）。结论AMBN基因7号外显子538540delGGA和13号外显子986C〉T位点多态性可能是影响氟斑牙发病的易感性因素之一。
Objective To study the distribution of ameloblastin （AMBN） gene polymorphism in coal-fire caused fluorosis （CFCF） in Chongqing municipality and the relationship between AMBN gene polymorphism and the susceptibility to dental fluorosis. Methods Under a case-control study, 100 children aged 8-12 and 30 aduks with dental fluorosis were enrolled in Wushan and Fengjie counties of Chongqing from December 2010 to February 2011. Another 100 children aged 8-12 and 30 adults with non-dental fluorosis were chosen as internal control groups together with 50 children and 30 adults without dental fluorosis were selected as external control groups in the non-epidemic area of Yubei district. DNA was extracted from peripheral blood sample of these people. Genotype of AMBN gene 7 extron 538_540delGGA, 10 extron 657A〉G and 13 extron 986C〉T loci were detected using the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique. Results The rates of 7 extron 538 540delGGA loci among case, internal and external control groups were as follows： GGA/GGA -/- 61.2% （74/121）, 78.5% （ 102/130）, 74.3% （52/70） ; GGA/- ： 24.0%（29/121 ）, 15.4% （20/130）, 22.9%（16/70） ; -/- ： 14.8% （ 18/121 ）, 6.1%（8/130）, 2.8% （2/70） , the difference was statistically significant （ x^2= 14.353, P〈0.05）. The AA appeared to be 86.8%（ 105/121 ）, 93.1%（ 121/130）, 91.4%（64/70） and AG were 13.2%（ 16/121 ）, 6.9%（9/130）, 8.6% （6/70）, with difference not statistically significant （ x^2 = 2.972, P 〉 0.05 ）. CC appeared as 81.0% （98/ 121）, 90.0%（117/130）, 87.1%（61/70） while CT as 19.0%（23/121）, 10.0%（13/130）, 12.9%（9/70）, with difference not statistically significant （x^2 =4.319, P〉0.05）. In comparing with the two control groups, the frequency of GGA/GGA was decreasing （x^2 values were 8.957, 3.405 , respectively, P〈 0.05） while the frequency of -/- was increasing （ x^2 values were 5.134, 6.833, respectively, P〈 0.05）. Results from the univariate analysis showed that the individuals who were carrying-/- genotype had an increased risk of suffering from fluorosis （OR values were 2.7,5.9, respectively, P〈 0.05）. When compared with the internal control group, the CT genotype of case group showed an increase （x^2=4.139, P〈0.05） while individuals that carrying CT genotype had an increased risk of suffering from fluorosis （OR=2.1, P〈0.05） , in epidemic-area. Conclusion Our results showed that the 7 extron 538 540delGGA and the 13 extron 986C〉T loci polymorphism in AMBN gene might serve as the susceptibility factors causing the coN-fired fluorosis.
出处
《中华流行病学杂志》
CAS
CSCD
北大核心
2013年第1期28-32,共5页
Chinese Journal of Epidemiology
基金
基金项目：重庆市地质矿产勘探开发局资助（[2010]科函02号）
关键词
氟斑牙
成釉细胞蛋白
燃煤污染
基因多态性
Dental fluorosis
Ameloblastin
Coal-fired polluting
Gene polymorphism
