田薇,李鸣,喻艳琴,张秀秀,王婵娟,张婷,单可人,官志忠,何燕
TIAN Wei,LI Ming,YU Yanqing,ZHANG Xiuxiu,WANG Chanjuan,ZHANG Ting,SHAN Keren,GUAN Zhizhong,HE Yan

• 1:贵州医科大学地方病与少数民族疾病教育部重点实验室
• 2:贵州医科大学贵州省医学分子生物学重点实验室
• 3:贵州医科大学

摘要(Abstract)：

目的:探讨核因子κB受体活化因子配体(RANKL)基因单核苷酸多态性(SNP)与贵州燃煤污染型地氟病的关系。方法:选取燃煤污染型地氟病病区样本365例为病例组,其中地氟重症组(氟斑牙明显且有氟骨症症状者)130例、地氟轻症组(有氟斑牙且无氟骨症症状者)235例,另选贵州省黔南布依族苗族自治州长顺县样本235例为对照组(无氟斑牙及氟骨症症状);采用TaqMan-MGB探针基因分型方法对上述样本RANKL基因的SNP位点rs9594738进行基因分型,分析rs9594738等位基因和基因型在各组间的分布差异。结果:rs9594738位点在地氟重症组与对照组的等位基因分布频率差异有统计学意义(P<0.05),地氟重症组男女之间基因型频率和等位基因频率差异均有统计学意义(P<0.05);遗传模式分析结果显示,在最优遗传模式显性遗传模式下,地氟重症组rs9594738基因型C/T-T/T可能是地氟重症人群的风险因素(P=0.014,OR=2.08,95%CI=1.16～3.72)。结论:RANKL基因rs9594738位点多态性与贵州省毕节市燃煤污染型地氟病氟骨症的发生可能有关联。
Objective: To investigate the relationship between Single nucleotide polymorphisms(SNP) in the receptor activator of nuclear factor kappa B ligand(RANKL) and coal burning induced fluorosis in Guizhou province. Methods: 365 cases were selected from coal burning contaminated areas in Bijie of Guizhou China, including 130 cases of the severe fluorine group(with obvious dental fluorosis and skeletal fluorosis symptoms),235 cases of the mild fluorine group(with dental fluorosis and no skeletal fluorosis symptoms). And 235 cases from Shangshun County of Southern Guizhou China were selected as the control group(without dental fluorosis and skeletal fluorosis sympoms). Then the TaqMan-MGB probe genotypic method was applied to detect RANKL gene SNP loci rs9594738 genotypic of the samples. The distribution of allele and genotype of rs9594738 in each group was analyzed. Results: There was statistically significant difference in allele frequency of rs9594738 between the severe fluorine group and the control group(P<0.05). There were statistically significant differences in genotype frequency and allele frequency between the male and female subjects in the severe fluorine group(P<0.05). Further genetic model analysis results showed that rs9594738 genotype C/T-T/T may be a risk factor for severe endemic fluorosis in the optimal dominant genetic model(P=0.014, OR=2.08, 95%CI between 1.16 and 3.72). Conclusion: The polymorphism of rs9594738 of RANKL gene may be related to the occurrence of skeletal fluorosis and dental fluorosis caused by coal burning pollution in Bijie city, Guizhou Province, China.

关键词(KeyWords)： 等位基因;基因型;燃煤污染型地氟病;基因多态性;RANKL基因;rs9594738位点
alleles;genotype;coal-burning endemic fluorosis;gene polymorphism;RANKL gene;rs9594738 site

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金项目(31560306,U1812403);; 贵州省科技支撑计划项目[黔科合支撑(2019)2807]

作者(Author): 田薇,李鸣,喻艳琴,张秀秀,王婵娟,张婷,单可人,官志忠,何燕
TIAN Wei,LI Ming,YU Yanqing,ZHANG Xiuxiu,WANG Chanjuan,ZHANG Ting,SHAN Keren,GUAN Zhizhong,HE Yan

DOI: 10.19367/j.cnki.1000-2707.2020.01.001

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