Yan Jiaqun, Song Hongquan, Mi Na, Jiao Xiaohui, Hao Yanru
Department of Stomatology, Harbin Medical University Cancer Hospital Department of Oral Maxillofacial Surgery, the First Affiliated Hospital Department of Endodontics, the First Affiliated Hospital, Harbin Medical University, Harbin Department of Stomatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences (CAMS), Peking Union Medical College (PUMC), Beijing, China.
Medicine (Baltimore). 2017 Sep;96(37):e7973. doi: 10.1097/MD.0000000000007973.
BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common orofacial congenital anomaly. The objective of the present study was to analyze the association of single nucleotide polymorphisms (SNPs) in the NAT2 and EGF61genes with NSCL/P in a Chinese population. METHODS: The frequencies of NAT2 (rs1799929)and EGF61 (rs4444903) gene variations were examined in a group of 285 NSCL/P patients and in 315 controls. Peripheral venous blood samples were collected for DNA extraction. Genotyping of the 2 SNPs was carried out using a mini sequencing (SNaPshot) method. Data were analyzed using the chi-square test. RESULTS: We found a significant association between the EGF61 (rs4444903) and NSCL/P (P = .01) genes.Conversely, NAT2 (rs1799929) was not significantly different between the cases and the control group.The genotype frequencies of rs4444903GA showed a significant difference compared with GG genotype as a reference (odds ratio = 0.59; 95% confidence interval: 0.42-0.84, P = .01). CONCLUSION: Our study showed that the EGF61 rs4444903GA genotype had a decreased risk of NSCL/P. Our data provides further evidence regarding the role of EGF61 variations in the development of NSCL/P in families of the studied populations.
背景：非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种常见的口腔面部先天性畸形。本研究的目的是分析中国人群中NAT2和EGF61基因的单核苷酸多态性（SNP）与NSCL/P的相关性。 方法：检测了285例NSCL/P患者和315例对照者中NAT2（rs1799929）和EGF61（rs4444903）基因变异的频率。采集外周静脉血样本进行DNA提取。使用微测序（SNaPshot）方法对这两个SNP进行基因分型。采用卡方检验分析数据。 结果：我们发现EGF61（rs4444903）基因与NSCL/P之间存在显著相关性（P = 0.01）。相反，NAT2（rs1799929）在病例组和对照组之间没有显著差异。以GG基因型为参照，rs4444903 GA基因型的频率与GG基因型相比有显著差异（优势比 = 0.59；95%置信区间：0.42 - 0.84，P = 0.01）。 结论：我们的研究表明，EGF61 rs4444903 GA基因型降低了患NSCL/P的风险。我们的数据为所研究人群家庭中EGF61变异在NSCL/P发生发展中的作用提供了进一步的证据。
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