Abstract：
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.
摘要：
评价ATP2B1基因多态性与氟骨症,进行了横断面研究.在中国,招募了962人，其中氟骨症342例。分析了四个TP2BA1多态性（rs2070759，rs12817819，rs17249754和rs7136259）。结果提示rs17249754和rs7136259与氟骨症相关。在控制了混杂因素之后，rs17249754中GG基因型的保护作用在45岁以上的个体中是明显的,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至1.3之间。rs7136259中的杂合子TC增加了老年人氟骨症的风险，女性,尿氟超过1.6毫克/升，血清钙大于2.25mmol/L，血磷在1.1至1.3mmol/L之间通过连锁不平衡分析发现四个基因座紧密相关，氟骨症组单倍型GCGT分布频率较低。
