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Evaluating the Association Between Dental Fluorosis and Polymorphisms in Bone Development and Mineralization Genes Among Population from a Fluoride Endemic Region of Eastern India

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Close to 12 million people in India are affected by more than the desirable level of fluoride in drinking water that could lead to dental, skeletal, and non-skeletal fluorosis. Dental fluorosis is a developmental defect that results in hypo-mineralization and pronounced porosity of enamel in the affected individuals. As estrogen receptor 1 (ESR1), collagen type 1 alpha 2 (COL1A2), bone γ-carboxyglutamic acid protein (BGLAP), and secreted protein acidic and cysteine rich (SPARC) genes are involved in bone development and mineralization, polymorphisms in these genes could be determining factors in influencing the risk to fluorosis among the exposed individuals in fluoride endemic areas. A case-control study was carried out among a total of 87 individuals (case = 36, control = 51) to examine the association between selected polymorphisms in the ESR1, COL1A2, BGLAP, and SPARC genes and risk of dental fluorosis from a fluoride endemic region of Eastern India. Altogether, 10 single nucleotide polymorphisms (SNPs) in ESR1 (rs2234693, rs2228480, rs3798577, rs2077647, and rs9340799), COL1A2 (rs42524, rs412777), BGLAP (rs1800247), and SPARC (rs6579885, rs4958278) genes were genotyped through PCR-RFLP in these subjects. The association of the SNPs for disease risk estimation was measured by odds ratio with 95% confidence interval. The risk genotypes of none of the 10 SNPs showed statistically significant association with risk of dental fluorosis. Frequencies of the haplotypes in the intragenic SNPs of the ESR1, COL1A2, and SPARC genes did not reveal any statistically significant difference between the case and control groups. The present study is the first of its kind from India that has attempted to investigate possible involvement of genetic factors in influencing the risk to fluorosis among the population from a fluoride endemic region.

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The authors are thankful to all the subjects who participated in the study. Mr. Moizul Haq and Mr. Abdul Hannan from Rampurhat Paribesh Pariseva Kendra are duly acknowledged for their cooperation in questionnaire survey, enrollment of subjects, and sample collection. KRC, NEERI, is duly acknowledged for checking the manuscript through the anti-plagiarism software iThenticate (KRC No: CSIR-NEERI/KRC/2019/DEC/KZC/1 dated December 3, 2019).


This work was financially supported by a grant from the Department of Biotechnology, Government of India (Project No. BT/PR8283/MED/12/619/2013), to Dr. Sreemanta Pramanik.

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Correspondence to Sreemanta Pramanik.

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The protocol of the research study was approved by the Institutional Ethics Committee of CSIR-National Environmental Engineering Research Institute (CSIR-NEERI), Nagpur, India.

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Saha, D., Goswami, R., Majumdar, K.K. et al. Evaluating the Association Between Dental Fluorosis and Polymorphisms in Bone Development and Mineralization Genes Among Population from a Fluoride Endemic Region of Eastern India. Biol Trace Elem Res 199, 1–8 (2021).

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