Abstract
Chronic periodontitis (CP) is a common oral disease characterized by the slow progression of alveolar attachment loss and bone destruction. Genetic components have been reported to play an important role in the onset and development of CP. In the present study, we aimed to replicate the association signals of NIN and SIGLEC5 identified in previous genome-wide association studies (GWASs) of samples from Chinese Han individuals. Association signals between clinical severity indicators of CP and relevant single nucleotide polymorphisms (SNPs) were also examined. A total of 3,160 study subjects, including 1,076 CP patients and 2,084 healthy controls, were recruited. A total of 32 SNPs, including 22 from NIN and 10 from SIGLEC5, were selected for genotyping. SNPs rs12883458 (OR = 1.45, P = 1.22 × 10−5, NIN) and rs4284742 (OR = 0.75, P = 1.69 × 10−5, SIGLEC5) were significantly associated with CP disease status. rs4284742 was significantly associated with all 3 clinical severity indicators, including bleeding on probing (BOP), probing depth (PD) and clinical attachment loss (CAL). According to evidence from bioinformatics analyses, both significant SNPs, rs12883458 and rs4284742, are likely surrogates of underlying variants with true effects. In summary, our findings provide direct evidence for the association of NIN and SIGLEC5 with CP susceptibility.
Highlights
Chronic periodontitis (CP) is a common oral disease characterized by the slow progression of alveolar attachment loss and bone destruction[1,2]
Because the roles of the NIN and SIGLEC5 genes in periodontitis susceptibility in Han Chinese individuals have not previously been evaluated, we performed a case-control study to assess the relationship of the NIN and SIGLEC5 genes with periodontitis susceptibility in Han Chinese individuals to improve our current understanding of the roles of these genes in periodontitis predisposition
We aimed to explore the relationship of the association signals of the NIN and SIGLEC5 genes identified in a previous genome-wide association studies (GWASs) with CP in a Han Chinese population, and association signals between clinical severity indicators of CP and relevant single nucleotide polymorphisms (SNPs) were examined
Summary
Chronic periodontitis (CP) is a common oral disease characterized by the slow progression of alveolar attachment loss and bone destruction[1,2]. A few genome-wide association studies (GWASs) have been published, and several susceptible loci, including SIGLEC518, DEFA1A318, NIN19–22, NPY19, WNT5A19, NCR219, EMR119, ABHD12B20, WHAMM20 and AP3B220, have been found to be associated with CP status and periodontal health. These previous GWASs have provided novel insights into the potential genetic etiology of CP and identified several candidate susceptible genes, further research is still needed due to the challenges inherent to GWASs, including a low portion of heritability explained by identified loci and non-consideration of biological and pathological mechanisms. We aimed to explore the relationship of the association signals of the NIN and SIGLEC5 genes identified in a previous GWAS with CP in a Han Chinese population, and association signals between clinical severity indicators of CP and relevant single nucleotide polymorphisms (SNPs) were examined
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