Hong Kyung-Won, Shin Myung-Seop, Ahn Yoo-Been, Lee Hyun-Jin, Kim Hyun-Duck
Theragen Etex Bio Institute, Suwonsi, Gyeonggi-do, Korea.
Division of Biomedical Informatics, Center for Genome Science, National Institute of Health, KCDC, Cheongju-si, Chungbuk, Korea.
J Clin Periodontol. 2015 Aug;42(8):703-710. doi: 10.1111/jcpe.12437. Epub 2015 Sep 4.
This study aims to locate the genes related to periodontitis through genome-wide association study (GWAS) in Korean population.
Total of 677 adults aged 44-88 years were recruited from the Yangpyeong cohort in Korea. The participants did not have self-reported metabolic diseases, cardiovascular diseases or cancer. Periodontitis was assessed using alveolar bone loss from a digital panoramic radiograph and classified into three groups: normal to mild, moderate and severe periodontitis. DNA from blood samples were genotyped using the Illumina Human 1M-duo Beadchip. Multivariable logistic regression analysis in PLINK was applied to examine the single-nucleotide polymorphisms (SNPs) related to periodontitis after controlling for various confounders.
Associations of three SNPs suggested TENM2 (rs4242220) and LDLRAD4 (rs12969041, rs2027756) as putative risk genes of chronic periodontitis (p-values <1 × 10 ). The odds ratio [95% confidence interval (CI)] of TENM2 was 0.53 (0.40-0.70) for moderate periodontitis and that of LDLRAD4 was 2.86 (1.92-4.27) for severe periodontitis. Two nonsynonymous SNPs of protein coding region and seven SNPs selected from previous reports showed nominal association.
Our GWAS supports a previously reported gene of TENM2 and newly suggests LDLRAD4. These two genes' role on lipid metabolism may play a part in the molecular aetiology of periodontitis.
本研究旨在通过全基因组关联研究(GWAS)在韩国人群中定位与牙周炎相关的基因。
从韩国杨平队列中招募了677名年龄在44 - 88岁的成年人。参与者无自我报告的代谢性疾病、心血管疾病或癌症。使用数字化全景X线片上的牙槽骨吸收情况评估牙周炎,并分为三组:正常至轻度、中度和重度牙周炎。使用Illumina Human 1M-duo Beadchip对血样中的DNA进行基因分型。在控制各种混杂因素后,应用PLINK中的多变量逻辑回归分析来检查与牙周炎相关的单核苷酸多态性(SNP)。
三个SNP的关联表明TENM2(rs4242220)和LDLRAD4(rs12969041,rs2027756)作为慢性牙周炎的假定风险基因(p值<1×10)。TENM2在中度牙周炎中的优势比[95%置信区间(CI)]为0.53(0.40 - 0.70),LDLRAD4在重度牙周炎中的优势比为2.86(1.92 - 4.27)。蛋白质编码区的两个非同义SNP和从先前报告中选择的七个SNP显示出名义上的关联。
我们的GWAS支持先前报道的TENM2基因,并新提出LDLRAD4。这两个基因在脂质代谢中的作用可能在牙周炎的分子病因学中起作用。