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Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.通过对马来人群中大型扩展家系进行全基因组连锁分析发现非综合征性唇腭裂的候选基因。
BMC Genet. 2016 Feb 11;17:39. doi: 10.1186/s12863-016-0345-x.
3
Association of Transforming Growth Factor Alpha Polymorphisms with Nonsyndromic Cleft Lip and Palate in Iranian Population.伊朗人群中转化生长因子α多态性与非综合征性唇腭裂的关联
Avicenna J Med Biotechnol. 2015 Oct-Dec;7(4):168-72.
4
The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population.巴西人群中功能性表皮生长因子+61多态性与非综合征性口腔颌面部裂隙易感性的关系
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[Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina].[阿根廷NAT2基因多态性与非综合征性唇裂伴或不伴腭裂之间的关联]
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Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.典型口腔颌面部裂隙潜在遗传因素的研究：突变筛查与拷贝数变异
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Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate.NAT1 和 NAT2 基因与非综合征性唇腭裂的关联。
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中国北方非综合征性唇裂伴或不伴腭裂患者中NAT2和EGF61基因的核苷酸变异

Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate.

作者信息

Yan Jiaqun, Song Hongquan, Mi Na, Jiao Xiaohui, Hao Yanru

机构信息

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.

出版信息

Medicine (Baltimore). 2017 Sep;96(37):e7973. doi: 10.1097/MD.0000000000007973.

DOI:10.1097/MD.0000000000007973
PMID:28906376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5604645/
Abstract

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.

摘要

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。