Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Heilongjiang, China.
Harbin Medical University, Heilongjiang, China.
J Gene Med. 2018 Dec;20(12):e3055. doi: 10.1002/jgm.3055. Epub 2018 Nov 5.
Non-syndromic orofacial clefts (NSOC) is one of the most common congenital malformations, and its etiology involves both genetic and environmental factors. The present aimed to investigate the association of six single nucleotide polymorphisms (SNPs) (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) with NSOC in a Northern Chinese population.
In the present study, HI-SNP technology was used to conduct genotyping of the six SNPs (rs10512248, rs12681366, rs957448, rs13317, rs1838105 and rs4968247) in 596 patients with NSOC and 466 healthy individuals from a Northern Chinese population.
The results obtained indicated that rs10512248 and rs12681366 minor allele frequencies were statistically significant (p = 0.020 and 0.015, respectively). Statistical analysis confirmed that the CT genotype of RAD54B rs12681366 was associated with a decreased risk of NSOC (odds ratio = 0.62, 95% confidence interval = 0.46-0.82, P = 0.001). After correcting for multiple testing, the associations remained significant. By contrast, nonsignificant differences were found for the rs957448, rs13317, rs1838105 and rs4968247 allele and genotype frequencies between cases and controls.
These results demonstrate that the PTCH1 rs10512248 and RAD54B rs12681366 were significantly associated with NSOC in a Northern Chinese population. Additionally, the RAD54B rs12381366 CT genotype could decrease the risk of NSOC in a Northern Chinese population. We provide novel evidence for the development of NSOC in a Northern Chinese population.
非综合征性口面裂（NSOC）是最常见的先天性畸形之一，其病因涉及遗传和环境因素。本研究旨在调查 6 个单核苷酸多态性（SNP）（PTCH1 中的 rs10512248、RAD54B 中的 rs12681366 和 rs958447、FGFR1 中的 rs13317、WNT9B 中的 rs1838105 和 rs4968247）与北方汉族人群 NSOC 的关联。
本研究采用 HI-SNP 技术对 596 例 NSOC 患者和 466 例北方汉族健康个体的 6 个 SNPs（rs10512248、rs12681366、rs957448、rs13317、rs1838105 和 rs4968247）进行基因分型。
结果表明，rs10512248 和 rs12681366 小等位基因频率具有统计学意义（p=0.020 和 0.015）。统计学分析证实，RAD54B rs12681366 的 CT 基因型与 NSOC 的发病风险降低相关（比值比=0.62，95%置信区间=0.46-0.82，P=0.001）。经过多重检验校正后，关联仍然显著。相比之下，病例组和对照组之间 rs957448、rs13317、rs1838105 和 rs4968247 等位基因和基因型频率无显著性差异。
这些结果表明，PTCH1 rs10512248 和 RAD54B rs12681366 与北方汉族人群的 NSOC 显著相关。此外，RAD54B rs12681366 CT 基因型可降低北方汉族人群 NSOC 的发病风险。我们为北方汉族人群 NSOC 的发生提供了新的证据。
