赵安宿,田薇,李瑞超,喻艳琴,王婵娟,张婷,吴昌学,何燕
ZHAO Anshu,TIAN Wei,LI Ruichao,YU Yanqin,WANG Chanjuan,ZHANG Ting,WU Changxue,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&贵州省医学分子生物学重点实验室

摘要(Abstract)：

目的 探讨核因子κB受体活化因子（RANK）基因rsrs1505034、rs884205单核苷酸多态性（SNP）与贵州燃煤型地氟病患病风险的关系。方法 483例贵州地氟病区人群按照氟斑牙诊断标准（WS/T 208-2011）分为地氟组（283例，氟斑牙程度在极轻度及以上）和对照组（200例，氟斑牙分度正常），采用TaqMan-MGB探针法对2组人群外周血DNA样本RANK基因的rs1505034、rs884205位点进行基因分型，分析rs1505034、rs884205等位基因和基因型在两组的分布，采用SNPstats对SNP位点基因型与燃煤型地氟病发生发展的相关遗传模式进行分析，采用SHEsis对RANK基因rs1805034和rs884205位点之间进行连锁不平衡分析。结果 RANK基因rs1805034位点等位基因和基因型频率在地氟组和对照组比较，差异有统计学意义（P<0.05）；最优遗传模式分析显示，RANK基因rs1805034位点最优遗传模式为共显性，在该遗传模式下C/T基因型和T/T基因型相对于C/C基因型是燃煤型地氟病发生的保护因素（OR=0.17,95%CI为0.09～0.31;OR=0.04,95%CI为0.02～0.08）;rs884205位点与燃煤型地氟病的发生无相关性（P> 0.05）;SHEsis分析结果显示上述2个位点之间不存在连锁不平衡（D′<0.5）。结论 RANK基因rs1805034位点多态型可能与贵州燃煤型地氟病的发生相关。
Objective To investigate the relationship between single nucleotide polymorphism(SNP) rsrs1505034 and rs884205 of Receptor Activator of Nuclear Factor-κB(RANK) gene and coal burning type of endemic fluorosis in Guizhou.Methods A total of 483 people were selected from endemic fluorosis area in Guizhou province. According to the diagnostic criteria for dental fluorosis(WS/T 208-2011), 283 patients with extremely mild dental fluorosis and above were grouped as the fluorosis group, and 200 patients with normal dental fluorosis division were grouped as control group.The SNP loci rs1505034 and rs884205 ofRANKgene in the above samples were genotyped by TaqmanMGB probe genotyping method, and the distribution differences of alleles rs1505034 and rs884205 in both groups were analyzed. SNPstats was adopted for analyzing relevant genetic models between SNP loci genotypeand coal-burning type of endemic fluorosis; SHEsis was adopted to analyze linkage disequilibrium between rs1505034 and rs884205 ofRANKgene.Results The allele and genotype frequency of rs1805034 ofRANKgene were statistically significantly different between the fluorosis group and the control group(P< 0. 05). The optimal genetic pattern analysis showed that rs1805034ofRANKgene as codominance; the C/T and T/T genotypes of such genetic model were associated with the risk of coal burning type of endemic fluorosis to C/C genotype(OR= 0. 17, 95%CIwas 0. 09-0. 31,P< 0. 001;OR= 0. 04, 95%CIwas 0. 02-0. 08,P< 0. 001). rs884205 loci showed no relevance with occurrence of coal burning type of endemic fluorosis(P> 0. 05). SHEsis analysis indicated that there is linkage disequilibrium inRANKgene polymorphism loci(D′ < 0. 5).Conclusion The polymorphism of rs1805034 ofRANKgene may be associated with the occurrence of coal-burning type of endemic fluorosis in Guizhou province.

关键词(KeyWords)： 燃煤污染型地氟病;RANK基因;基因多态性;等位基因;基因型
coal-burning type of endemic fluorosis;RANKgenes;gGene polymorphism;allele;genotype

Abstract:

Keywords:

基金项目(Foundation): 贵州科技支撑计划项目资助（黔科合支撑[2019]2807号）;; 国家自然科学基金资助（31560306）

作者(Author): 赵安宿,田薇,李瑞超,喻艳琴,王婵娟,张婷,吴昌学,何燕
ZHAO Anshu,TIAN Wei,LI Ruichao,YU Yanqin,WANG Chanjuan,ZHANG Ting,WU Changxue,HE Yan

DOI: 10.19367/j.cnki.2096-8388.2022.04.004

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