成釉细胞蛋白基因多态性与氟斑牙关系的研究

焦永卓; 牟李红; 王应雄; 晏维; 蒋苗

文章摘要

焦永卓,牟李红,王应雄,晏维,蒋苗.成釉细胞蛋白基因多态性与氟斑牙关系的研究[J].中华流行病学杂志,2013,34(1):28-32

成釉细胞蛋白基因多态性与氟斑牙关系的研究

Association between ameloblastin gene polymorphisms and the susceptibility to dental Fluorosis

收稿日期:2012-07-04 出版日期:2014-09-18

DOI：10.3760/cma.j.issn.0254-6450.2013.01.007

中文关键词: 氟斑牙成釉细胞蛋白燃煤污染基因多态性

英文关键词: Dental fluorosis Ameloblastin Coal-fired polluting Gene polymorphism

基金项目:重庆市地质矿产勘探开发局资助([2010]科函02号)

作者	单位	E-mail
焦永卓	400016 重庆医科大学公共卫生与管理学院流行病学教研室
牟李红	400016 重庆医科大学公共卫生与管理学院流行病学教研室	mulihong@yahoo.com
王应雄	基础医学院
晏维	重庆市疾病预防控制中心地方病防治所
蒋苗	400016 重庆医科大学公共卫生与管理学院流行病学教研室

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中文摘要:

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，采用聚合酶链反应一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(538_{_} 540de1GGA),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( x²=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 )，各组间差异无统计学意义(x²=2.972,P>0.05);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),10.0% (13/130)和12.9% ( 9/70)，各组间差异无统计学意义(x²=4.319,P>0.05)。与两对照组相比，病例组的GGA/GGA基因型频率降低(x²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(才值分别为5.134,6.833,P值均<0.05。单因素分析显示，携带一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(x²=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< 0.05 )。结论AMBN基因7号外显子538_{_}540de1GGA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。

英文摘要:

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 adults 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 childrenand 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_540de1GGA, 10 extron 657A>G and 13 extron 986C>T loci were detected using the polymerise 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(x²=14.353，P<0.05). The AA appeared to be 86.8% 105/121),93.1%(121/130),91.4%(64/70) andAGwere 13.2%(16/121),6.9%(9/130)，8.6% (6/70),with difference not statistically significant (x²=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 (x²=4.319, P>0.05). In comparing with the two control groups, the frequency of GGA/GGA was decreasing (x² values were 8.957, 3.405，respectively, P<0.05 ) while the frequency of-/-- was increasing(x² 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 (x²=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 538-40de1GGA and the 13 extron 986C>T loci polymorphism in AMBN gene might serve as the susceptibility factors causing the coal-fired fluorosis.

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