State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, China.
Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, USA.
Arch Oral Biol. 2022 Sep;141:105485. doi: 10.1016/j.archoralbio.2022.105485. Epub 2022 Jun 17.
This study aimed to reveal the association between single-nucleotide polymorphism of NTN1 and subtypes of non-syndromic cleft lip with or without cleft palate (NSCL/P) in Han Chinese Population.
Initially, we selected three single-nucleotide polymorphisms (SNP) (rs4791331, rs4791774 and rs9891446) in NTN1 from previous genetic studies. Then we recruited two Han Chinese cohorts (2004 cases and 1823 controls) and divided cases into subgroups: non-syndromic right-side cleft lip, non-syndromic left-side cleft lip, non-syndromic bilateral cleft lip and non-syndromic cleft lip with palate to further evaluate the associations between the subtypes of NSCL/P and SNPs in NTN1. PLINK and Haploview program were utilized to analyze the data.
In the association analysis under additive model, we found that G allele at rs9891446 could specifically increase the risk of right-side cleft lip (P = 0.0073, OR = 1.44, 95%CI: 1.1-1.88), which was consistent with the results of association analysis under genotypic model.
This study showed that rs9891446 of NTN1 was specifically associated with right-side cleft lip in Han Chinese, which indicates that different subtypes of non-syndromic cleft lip have distinct genetic background.
本研究旨在揭示 NTN1 单核苷酸多态性与汉族人群非综合征性唇裂伴或不伴腭裂（NSCL/P）亚型之间的关联。
最初，我们从先前的遗传研究中选择了 NTN1 中的三个单核苷酸多态性（SNP）（rs4791331、rs4791774 和 rs9891446）。然后，我们招募了两个汉族人群（2004 例病例和 1823 例对照），并将病例分为亚组：非综合征性右侧唇裂、非综合征性左侧唇裂、非综合征性双侧唇裂和非综合征性唇裂伴腭裂，以进一步评估 NTN1 中 SNPs 与 NSCL/P 亚型之间的关联。PLINK 和 Haploview 程序用于分析数据。
在加性模型的关联分析中，我们发现 rs9891446 中的 G 等位基因可以特异性增加右侧唇裂的风险（P = 0.0073，OR = 1.44，95%CI：1.1-1.88），这与基因型模型的关联分析结果一致。
本研究表明，NTN1 的 rs9891446 与汉族人群的右侧唇裂特异性相关，这表明非综合征性唇裂的不同亚型具有不同的遗传背景。
