Association of COL1A2 (PvuII) gene polymorphism with risk and severity of dental fluorosis – A case control study

Abstract

IntroductionDental fluorosis is a foremost public health problem in many countries, including India. Very few studies investigated gene polymorphism and risk of dental fluorosis. Genetic polymorphisms in Collagen Type I, alpha 2 (COL1A2) gene, found to be linked with bone pathogenesis, may affect the tooth formation resulting in the vulnerability to dental fluorosis.AimTo assess the association between COL1A2 (PvuII) gene polymorphism and risk as well as severity of dental fluorosis.MethodsThe present case control study was conducted among participants with (n = 60) and without (n = 60) dental fluorosis. Dental fluorosis was assessed using Modified Dean’s fluorosis index (1942). The PvuII polymorphisms (in exon 25) inside the COL1A2 gene were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) procedure. Statistical analysis were carried out with Chi-square test and Odds Ratio (OR) was determined with multivariate logistic regression analysis.ResultsThe genetic polymorphism in COL1A2 PvuII was found to be associated with the risk of dental fluorosis which was highly significant (p < 0.001). The odds ratio was 31.4 times [OR = 31.9, 95% CI: 3.9–48.7] higher for the homozygous PP genotype group and 4.0 times [OR = 4.0, 95% CI: 1.0–10.7] higher for the heterozygous Pp genotype.ConclusionGenetic polymorphism of COL1A2 was found to be associated with dental fluorosis. The present study provides an insight for identification of the population who may subsist at risk of developing dental fluorosis in their later life.

Single Nucleotide Polymorphisms and Dental Fluorosis: A Systematic Review

“…In addition, Rahila et al (2019) reported that this polymorphism was associated with the severity of the disease. On the other hand, Jarquín-Yáñez et al (2018) observed that the C allele of rs412777 increased the risk of the more severe levels of DF, unlike Escobar-García et al (2016), Saha et al (2021), and Chakraborty et al (2022), who did not indicate associations with the same SNP [ 18 , 23 , 26 , 29 , 33 , 35 ].…”

“…D4: Bias in measurement of the outcome. D5: Bias in the selection of the report result [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”

Moderate and Severe Dental Fluorosis in the Rural Population of Anantapur, India: Change in Their Biological Susceptibility?

“…In this regard, genetic variations and alterations can change the biological response of an organism against fluoride as a toxin. For example, different dental fluorosis manifestations have been related to ethnicity [ 49 , 50 ]; additionally, an association was observed between dental fluorosis and the polymorphism of the genes COL1a2 (collagen type 1) [ 11 , 51 ], TIMP1 (metalloproteinase inhibitor), DLX1 and 2 (homeobox transcription factor genes, associated with craniofacial development) [ 52 ], ESR (estrogen receptor) [ 53 , 54 ], and CTR (calcitonin receptor) [ 55 ]; specifically in India, associations between dental fluorosis and polymorphisms of the genes COL1a2 [ 56 , 57 , 58 ], ESR [ 58 ], BGLAP [ 58 ] (a protein that regulates bone remodeling), and SPARC [ 58 ] (protein required for the bone calcification process) have been evidenced; additionally, the polymorphisms of both DLX 1 and 2 genes (craniofacial development) were associated with the risk of severe fluorosis [ 52 ]. In animal models, it has been shown that both the genetic and environmental factors play a role in tooth quality [ 59 , 60 ].…”

The Application of Fluoride in Dental Caries

“…In addition, gene is regarded as a relevant risk factor of dental fluorosis [12]. Increasing evidence shows that an individual's genetic background could increase the risk of fluorosis when other factors like fluoride exposure remain the same [13]. A cross-sectional study [14] in Mexican children revealed an association of rs 412777 polymorphism in the COL1A2 gene with dental fluorosis.…”