Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Mol Genet Genomics. 2022 Mar;297(2):553-559. doi: 10.1007/s00438-022-01871-9. Epub 2022 Feb 25.
Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect involving genetic factors. We conducted this case-control study to verify the association of ten single-nucleotide polymorphisms (SNPs) of six genes (VAX1, MAFB, PAX7, ABCA4, NTN1, and NOG) with NSCL/P in the Chinese population. The study included 249 NSCL/P patients, 62 nonsyndromic cleft palate only (NSCPO) patients and 480 controls. Three loci, namely, VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774, were associated with NSCL/P (Bonferroni method adjusted p values were 0.020, 0.00031, and 0.030, respectively). We also found that the disease risk of individuals carrying both VAX1 rs7078160 and NTN1 rs4791774 was higher than those carrying only one of them (p = 4.50 × 10 and 6.03 × 10, respectively). SNPs of genes VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774 increased NSCL/P risk in the Chinese population.
非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种常见的先天缺陷，涉及遗传因素。我们进行了这项病例对照研究，以验证六个基因（VAX1、MAFB、PAX7、ABCA4、NTN1 和 NOG）的十个单核苷酸多态性（SNP）与中国人群中 NSCL/P 的关联。该研究包括 249 例 NSCL/P 患者、62 例单纯非综合征性腭裂（NSCPO）患者和 480 例对照。三个位点，即 VAX1 rs7078160、MAFB rs11696257 和 NTN1 rs4791774，与 NSCL/P 相关（Bonferroni 方法调整后的 p 值分别为 0.020、0.00031 和 0.030）。我们还发现，同时携带 VAX1 rs7078160 和 NTN1 rs4791774 的个体的疾病风险高于仅携带其中一种的个体（p=4.50×10 和 6.03×10，分别）。基因 VAX1 rs7078160、MAFB rs11696257 和 NTN1 rs4791774 的 SNP 增加了中国人群 NSCL/P 的风险。
