过氧化物酶体增殖激活受体γ基因 Rs1801282位点与饮茶型氟骨症的关系

Relationship between Rs1801282 polymorphism of peroxisome proliferator activated receptor γ gene andbrick-tea type fluorosis

目的探讨过氧化物酶体增殖激活受体1（PPART）基因Rs1801282位点单核苷酸多态性（SNP）与饮茶型氟骨症的关系。方法2012、2013年，采用横断面研究在内蒙古、青海、新疆16个典型饮茶型氟中毒病区，选取现场拍摄X线片进行氟骨症诊断的〉18岁成人作为调查对象，进行问卷调查，内容包括一般情况、日均砖茶水摄入量。采集调查对象的饮用茶水样品和尿样，采用离子选择电极法（ws／T89．2006）进行砖茶氟和尿氟含量测定；采用X线扫描进行氟骨症诊断，根据《地方性氟骨症诊断标准》（WS／T192．2007）将受检人群分为氟骨症组（病例组）和非氟骨症组（对照组）。采集静脉血5ml，提取全血DNA，采用MassARRAY时间飞行质谱生物芯片系统进行PPARl基因Rs1801282位点多态性检测，计算比值比（OR）和95％可信区间（CI）。结果纳入本次分析共1414人，其中病例组347人，对照组1067人。经Hardy—Weinberg平衡检验，PPARy基因Rsl801282位点在病例组和对照组人群及各民族中均达到遗传平衡（p均〉0．05）。PPAR7基因Rsl801282位点基因多态与饮茶型氟骨症无明显关联（OR值为0．991、95％CI：0．704—1．395。调整OR值为1．026、95％CI：0．707～1．489）。不同民族病例组和对照组人群PPARl基因Rsl801282位点基因型（CC、CG＋GG）经二元Logistic回归分析，差异无统计学意义（藏族：OR值为1．400、95％CI：0．576～3．404，调整OR值为1．258、95％CI：0．474～3．340；哈萨克族：OR值为0．898、95％CI：0．516。1．562，调整OR值为0．936、95％CI：0．532～1．648；蒙古族：OR值为1．148、95％CI：0．508—2．594，调整OR值为1．644、95％CI：0．683～3．956；汉族：OR值为1．058、95％CI：O．451～2．482，调整OR值为0．959、95％CI：0．388—2．371；俄罗斯族：OR值为O．000、95％CI：O．000～0．000，调整OR值为0．000、95％CI：O．Ooo一0．000）。结论PPARl，基因Rsl801282位点SNP与我国饮茶型氟骨症不存在风险关联。

Objective To investigate the relationship between single nucleotide polymorphism （SNP） of the peroxisome proliferator activated receptor γ（PPAR γ） gene Rs1801282 and brick-tea type fluorosis. Methods From 2012 to 2013, this cross-sectional study was performed in 16 endemic fluorosis areas of brick-tea type in Inner Mongolia Autonomous Region, Qinghai and Xinjiang Uygur Autonomous Region of China, to select adults 〉 18 years old as subjects, who were diagnosed as skeletal fluorosis by X-ray. All of the subjects filled in demographysurvey questionnaire; the survey contents included general characteristic s, and average daily brick tea intake. Drinking tea samples and urine samples of each subject were collected, and fluoride content of urine and brick-tea was determined via the ion selective electrode method （WS/T 89-2006）. X-ray scintigraphy was used to diagnose skeletal fluorosis, according to the ＂Diagnostic Criteria of Endemic Skeletal Fluorosis＂ （WS/T 192-2007）; the subjects were divided into skeletal fluorosis group （case group） and non-skeletal fluorosis group （control group）. To collect venous blood 5 ml, whole blood DNA was extracted, and polymorphism at Rs1801282 of PPAR γ was detected by MassARRAY time-of-flight mass spectrometry, to calculate odds ratio （OR） and 95% confidence interval （C/）. Results There were 1 414 people included in this study, including 347 in case group and 1 067 in control group. By the Hardy-Weinberg balance test, the PPAR γ gene Rs1801282 genotype was representative in case group, control group and each nationality （P 〉 0.05）. The difference of PPAR γ gene Rs1801282 genotype in case group and control group was not statistically significant （OR was 0.991, 95%CI： 0.704 - 1.395, the adjusted OR was 1.026, 95%CI： 0.707 - 1.489）. The difference of PPAR γ gene Rs1801282 genotype （CC, CG ＋ GG） in case group and control group in different nationality was not statistically significant （Tibetan： OR was 1.400, 95%CI： 0.576 - 3.404, the adjusted OR was 1.258, 95%C1：0.474 - 3.340; Kazak： OR was 0.898, 95%CI： 0.516 - 1.562, the adjusted OR was 0.936, 95%C1：0.532 - 1.648; Mongolia： OR was 1.148, 95%CI： 0.508 - 2.594, the adjusted OR was 1.644, 95%CI： 0.683 - 3.956; Han： OR was 1.058, 95%CI： 0.451 - 2.482, the adjusted OR was 0.959, 95%CI： 0.388 - 2.371; Russian： OR was 0.000, 95%CI： 0.000 - 0.000, the adjusted OR was 0.000, 95%CI： 0.000 - 0.000） with binary Logistic regression analysis. Conclusion We have found no association between SNP of PPAR γ, gene Rs1801282 and skeletal fluorosis of brick-tea type fluorosis in China.