LDL receptor-related protein 5 rs648438 polymorphism is associated with the risk of skeletal fluorosis

作者：Zhang, Meichen; Xu, Haili; Lou, Qun; Yin, Fanshuo; Guo, Ning; Wu, Liaowei; Huang, Wei; Ji, Yi; Yang, Liu; Li, Qiao; Wang, Sa; Guan, Zhizhong; Yang, YanMei^*; Gao, Yanhui^*

来源：INTERNATIONAL JOURNAL OF ENVIRONMENTAL HEALTH RESEARCH, 2023.

DOI：10.1080/09603123.2022.2163989

• Skeletal fluorosis
• single nucleotide polymorphism
• LRP5 rs648438

To investigate the potential association between LRP5 rs648438 polymorphism and the risk of skeletal fluorosis (SF) was evaluated in a cross-sectional case-control study conducted in Shanxi, China, in 2019. A total of 973 individuals were enrolled in this study, in which cases and controls were 346 and 627, respectively. SF was diagnosed according to the standard WS/192-2008 (China). The LRP5 rs648438 was detected by the multiple PCR and sequencing. LRP5 rs648438 was found to follow a dominant genetic model using a web-based SNP-STATS software. Logistic regression analysis found that the TC/CC genotype of LRP5 rs648438 might be a protective factor for SF. When stratified by gender, this protective effect of TC/CC genotype in rs648438 was pronounced in males. There was an interaction between gender and rs648438 on risk of SF. Our study suggested that TC/CC genotype of rs648438 might be a protective factor for water-drinking-type skeletal fluorosis, especially in male participants.

• 单位
  哈尔滨医科大学