Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China.
Department of Orthodontics, Affiliated Hospital of Stomatology, Nanjing Medical University, Nanjing, China.
Oral Dis. 2019 Oct;25(7):1751-1758. doi: 10.1111/odi.13149. Epub 2019 Jul 7.
BACKGROUND: Non-syndromic supernumerary teeth (NSST) or hyperdontia may share common genetic determinants with non-syndromic cleft lip with or without palate (NSCL/P). The aim of this study was to test the associations between five genome-wide-associated NSCL/P-susceptible single nucleotide polymorphisms (SNPs) (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) and the occurrence of NSST. MATERIALS AND METHODS: A total of 163 cases and 326 controls were recruited and their genomic DNA was extracted from blood samples. Five NSCL/P-susceptible SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan method. Odds ratio (OR) and 95% confidence interval (CI) were used to estimate the associations between the SNPs and the risk of NSST by PLINK software. RESULTS: Rs4791774 (A > G) and rs13041247 (T > C) were associated with risk of NSST (rs4791774: P = 0.011, OR, 95% CI = 0.62, 0.43-0.90; rs13041247: P = 0.031, OR, 95% CI = 1.79, 1.05-3.05) and one supernumerary tooth (rs4791774: P = 0.009, OR, 95% CI = 0.56, 0.36-0.87; rs13041247: P = 0.034, OR, 95% CI = 1.82, 1.05-3.15). Rs4791774 (A > G) was also showed association with risk of upper arch supernumerary teeth only (P = 0.010, OR, 95% CI = 0.60, 0.41-0.89). CONCLUSION: Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth.
背景:非综合征性额外牙(NSST)或多生牙可能与非综合征性唇腭裂(NSCL/P)具有共同的遗传决定因素。本研究旨在检验五个与非综合征性唇腭裂相关的全基因组关联易感单核苷酸多态性(SNP)(rs2235371、rs7078160、rs8049367、rs4791774 和 rs13041247)与 NSST 发生的相关性。
材料与方法:共招募了 163 例病例和 326 例对照,并从血液样本中提取其基因组 DNA。采用 TaqMan 法对 5 个 NSCL/P 易感 SNP(rs2235371、rs7078160、rs8049367、rs4791774 和 rs13041247)进行基因分型。采用 PLINK 软件,以比值比(OR)和 95%置信区间(CI)来估计 SNP 与 NSST 风险之间的相关性。
结果:rs4791774(A>G)和 rs13041247(T>C)与 NSST 风险相关(rs4791774:P=0.011,OR,95%CI=0.62,0.43-0.90;rs13041247:P=0.031,OR,95%CI=1.79,1.05-3.05)和单个额外牙(rs4791774:P=0.009,OR,95%CI=0.56,0.36-0.87;rs13041247:P=0.034,OR,95%CI=1.82,1.05-3.15)。rs4791774(A>G)还与上颌弓额外牙的风险相关(仅 P=0.010,OR,95%CI=0.60,0.41-0.89)。
结论:非综合征性唇腭裂易感位点 rs4791774(A>G)和 rs13041247(T>C)与额外牙的风险相关。
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