Correlation study on mtDNA polymorphisms as potential risk factors in aggressive periodontitis by NGS

Using next-generation sequencing (NGS) to determine whether aggressive periodontitis is associated with specific mitochondrial polymorphisms.

A total of 165 unrelated Han Chinese were enrolled in the study. We analyzed the mitochondrial DNA (mtDNA) in 97 patients with aggressive periodontitis and 68 healthy controls by NGS. The mitochondrial DNA was L-PCR-amplified and subsequently sequenced by an Illumina Genome Analyzer (NGS). Chi-square tests were used to assess the differences between the two groups. In cases of significant difference, multivariate logistic regression models were further used to analyze the association between mtDNA polymorphisms and aggressive periodontitis.

Significant association was observed between aggressive periodontitis and eight mitochondrial polymorphisms: "8860G-10400C" (OR = 2.828, p = .002), "8701A" (OR = 2.308, p = .005), "12705C-10398A" (OR = 2.683, p = .002), "9540C" (OR = 3.838, p = .001) and "10873T-15043G" (OR = 4.375, p = .001).

The pathogenesis of aggressive periodontitis is complicated, and its heredity is not well characterized. Our study was the first to use next-generation sequencing and found that 8860G-10400C, 8701A, 12705C-10398A, 9540C, and 10873T-15043G are associated with aggressive periodontitis in the Han Chinese population.