Genequest Inc, Siba 5-29-11, Minato-ku, Tokyo, 108-0014, Japan.
Research and Development Headquarters, Lion Corporation, Odawara, Kanagawa, Japan.
BMC Oral Health. 2024 Aug 27;24(1):1003. doi: 10.1186/s12903-024-04799-1.
Tooth loss significantly impacts oral function and overall health deterioration. Dental caries and periodontal disease are major contributors to tooth loss, emphasizing the critical need to prevent these conditions. Genetic studies have played a crucial role in deepening our understanding of the underlying mechanisms of these diseases. While large-scale genome-wide association studies (GWAS) on dental caries and periodontal disease have been conducted extensively, research focusing on Asian populations remains limited. Given substantial genetic and lifestyle variations across ethnicities, conducting studies across diverse populations is imperative. This study aimed to uncover new insights into the genetic mechanisms of these diseases, contributing to broader knowledge and potential targeted interventions.
We conducted a GWAS using genome data from 45,525 Japanese individuals, assessing their self-reported history of dental caries and periodontal disease. Additionally, we performed a meta-analysis by integrating our results with those from a previous large-scale GWAS predominantly involving European populations.
While no new loci associated with periodontal disease were identified, we discovered two novel loci associated with dental caries. The lead variants of these loci were intron variant rs10974056 in GLIS3 and intron variant rs4801882 in SIGLEC5.
Our study findings are anticipated to advance understanding of the underlying mechanisms of dental caries and periodontal disease. Thes insights may inform better management strategies for patients affected by these conditions.
牙齿缺失严重影响口腔功能和整体健康状况恶化。龋齿和牙周病是导致牙齿缺失的主要原因,这强调了预防这些疾病的重要性。遗传研究在深入了解这些疾病的潜在机制方面发挥了至关重要的作用。虽然已经广泛开展了关于龋齿和牙周病的大规模全基因组关联研究(GWAS),但针对亚洲人群的研究仍然有限。鉴于不同种族之间存在显著的遗传和生活方式差异,在不同人群中开展研究至关重要。本研究旨在深入了解这些疾病的遗传机制,为更广泛的知识和潜在的靶向干预提供新的见解。
我们使用来自 45525 名日本个体的基因组数据进行了 GWAS,评估了他们自我报告的龋齿和牙周病病史。此外,我们通过整合与以前主要涉及欧洲人群的大规模 GWAS 的结果进行了荟萃分析。
虽然没有发现与牙周病相关的新位点,但我们发现了两个与龋齿相关的新位点。这些位点的主要变异是 GLIS3 内含子变异 rs10974056 和 SIGLEC5 内含子变异 rs4801882。
我们的研究结果有望促进对龋齿和牙周病潜在机制的理解。这些见解可能为受这些疾病影响的患者提供更好的管理策略。