Center for Endemic Disease Control, Chinese Center for Disease Control and Prevention, Harbin Medical University, Harbin, China.
Key Lab of Etiology and Epidemiology, Education Bureau of Heilongjiang Province, Ministry of Health of P. R. China, Harbin Medical University, Harbin, China.
Int J Environ Health Res. 2024 Mar;34(3):1410-1420. doi: 10.1080/09603123.2023.2213159. Epub 2023 May 21.
To evaluate the association between ATP2B1 gene polymorphisms and skeletal fluorosis, a cross-sectional study was conducted. In China, 962 individuals were recruited, including 342 cases of skeletal fluorosis. Four TP2BA1 polymorphisms (rs2070759, rs12817819, rs17249754, and rs7136259) were analysed. The results suggested that rs17249754 and rs7136259 were associated with skeletal fluorosis. After controlling confounders, the protective effect of GG genotype in rs17249754 was apparent in individuals over 45 years old, female, with urine fluoride concentration below 1.6 mg/L, serum calcium above 2.25 mmol/L or serum phosphorus between 1.1 and 1.3. Heterozygote TC in rs7136259 increased the risk of skeletal fluorosis in subjects who are elderly, female, with urinary fluoride more than 1.6 mg/L, serum calcium more than 2.25 mmol/L and blood phosphorus between 1.1 and 1.3 mmol/L. Four loci were found to be tightly related by linkage disequilibrium analysis, and the frequency of distribution of haplotype GCGT was lower in the skeletal fluorosis group.
为了评估 ATP2B1 基因多态性与氟骨症之间的关系，进行了一项横断面研究。在中国，共招募了 962 人，其中包括 342 例氟骨症患者。分析了四个 TP2BA1 多态性（rs2070759、rs12817819、rs17249754 和 rs7136259）。结果表明，rs17249754 和 rs7136259 与氟骨症有关。在控制混杂因素后，rs17249754 中 GG 基因型在 45 岁以上、女性、尿氟浓度低于 1.6mg/L、血清钙高于 2.25mmol/L 或血清磷在 1.1 和 1.3mmol/L 之间的个体中具有明显的保护作用。rs7136259 中的杂合 TC 增加了尿氟大于 1.6mg/L、血清钙大于 2.25mmol/L、血磷在 1.1 和 1.3mmol/L 之间的老年女性发生氟骨症的风险。连锁不平衡分析发现四个位点紧密相关，氟骨症组中 GCGT 单倍型的分布频率较低。
