Association between mtDNA haplogroups and skeletal fluorosis in Han population residing in drinking water endemic fluorosis area of northern China

ABSTRACT

To investigate the association between mtDNA genetic information and the risk of SF, individuals were conducted in the drinking water endemic fluorosis area in northern China, sequenced the whole genome of mtDNA, identified the SNPs and SNVs, analyzed the haplogroups, and diagnosed SF, and then, the effect of mtDNA genetic information on the risk of SF was evaluated. We find that, D5 haplogroup and its specific SNPs reduced the risk, while the D4 haplogroup and its specific SNPs increased the risk of SF. The number of SNVs in coding regions of mitochondrial respiratory chain (MRC) is different between the controls and cases. This suggests that D5 haplogroup may play a protective role in the risk of SF, while the opposite is observed for the D4 haplogroup, this may relate to their specific SNPs. And SNVs that encode the MRC complex may also be associated with the risk of SF.

KEYWORDS:

• Skeletal fluorosis
• mtDNA haplogroup
• single nucleotide polymorphism
• single nucleotide variant

Acknowledgements

This work was supported by the National Natural Science Foundation of China (82073493). Sincerely thanks to the Institute of Endemic Disease Prevention and Control of Shanxi and Jilin Province for their strong support in this cross-sectional survey.

Disclosure statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Abbreviations

DF (dental fluorosis), SF (skeletal fluorosis), mtDNA (mitochondrial DNA), nDNA (nucleus DNA), SNP (single nucleotide polymorphism), SNV (single nucleotide variants), BMD (bone mineral density), rCRS (revised Cambridge Reference Sequence), UF (urinary fluoride), PCA (principal component analysis), MRC (mitochondrial respiratory chain).

Data availability statement

All data and materials are included in the manuscript.

Ethics approval

Informed consent was obtained from each participant. The study was proved by the Center for Endemic Disease Control Ethics Committee (HRBMUECDC 20,200,317).

Additional information

Funding

This work was supported by the National Natural Science Foundation of China (82073493).