OBJECTIVE: This study explored the association between an Alu I polymorphism at position 1,377 of the calcitonin receptor (CTR) gene and endemic fluorosis.
SUBJECTS AND METHODS: A case-control study of 321 participants was conducted in regions with high fluorosis rates (Wushan and Fengjie counties) and those without high fluorosis rates (Yubei Qu county; termed nonfluorosis areas) in Chongqing, China. The participants were divided into three groups: the fluorosis group (FG) from areas with high fluoride exposure (121), the nonfluorosis group (NFG) from areas with high fluoride exposure (130), and a control group (CG) from areas with no excessive fluoride exposure (70). An Alu I polymorphism in the CTR gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis.
RESULTS: The genotype distributions within each group were as follows: CC 60.33% (73/121), CT 30.58% (37/121) and TT 9.09% (11/121) for the FG; CC 74.62% (97/130), CT 21.54% (28/130) and TT 3.85% (5/130) for the NFG, and CC 68.57% (48/70), CT 31.43% (22/70) and TT 0% (0/70) for the CG. Significant differences in Alu I genotypes were observed among the groups (?(2) = 12.317, ? = 4, p = 0.015). Allele frequencies of CTR genotypes differed significantly among the groups (?(2) = 8.859, ? = 2, p = 0.012): C 75.62% (183/242) and T 24.38% (59/242) for the FG, C 85.38% (222/260) and T 14.62% (38/260) for the NFG, and C 84.29% (118/140) and T 15.71% (22/140) for the CG.
CONCLUSION: An association between fluorosis and the Alu I polymorphism in the CTR gene was observed in fluoride-exposed populations.