染色体10q25位点多态性与中国非综合征性唇腭裂的关联研究

中国口腔颌面外科杂志 ›› 2016, Vol. 14 ›› Issue (4): 324-327.

染色体10q25位点多态性与中国非综合征性唇腭裂的关联研究

彭莉¹, 牛振民², 黄薇², 陈振琦¹

1.上海交通大学医学院附属第九人民医院·
口腔医学院口腔正畸科,上海市口腔医学重点实验室,上海 200011;
2.上海市疾病与健康基因组学实验室-省部共建国家重点实验室培育基地, 国家人类基因组南方研究中心,上海 201203

出版日期:2016-08-20 发布日期:2016-12-08
通讯作者: 陈振琦,E-mail:orthochen@yeah.net
作者简介:彭莉(1989-),女,在读硕士研究生,E-mail:sakura2500@sina.com
基金资助:
国家自然科学基金(31571293)

Association of chromosome 10q25 polymorphisms with non-syndromic cleft lip with or without cleft palate in Chinese population

PENG Li¹, NIU Zhen-min², HUANG Wei², CHEN Zhen-qi¹

1.Department of Orthodontics, Shanghai Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine;
Shanghai Key Laboratory of Stomatology. Shanghai 200011;
2.Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center. Shanghai 201203, China

Online:2016-08-20 Published:2016-12-08

摘要/Abstract

摘要： 目的研究染色体10q25上2个单核苷酸多态性（single nucleotide polymorphisms, SNP）位点rs7078160、rs4752028与中国人群非综合征性唇腭裂（non-syndromic cleft lip with or without cleft palate, NSCL/P）发病的相关性。方法收集180例NSCL/P患者作为病例组,并按照表型分为单纯唇裂组、唇腭裂组、单纯腭裂组,将单纯唇裂组和单纯腭裂组合并为唇/腭裂组;选取360名健康人作为对照组。采集病例组和对照组的外周血血样并提取DNA。对上述2个SNP设计引物,PCR扩增其序列,通过二代测序进行基因型分型。利用SPSS19.0软件包中的χ²检验对病例组与对照组的基因型以及等位基因频率进行分析。结果 rs7078160的等位基因频率在唇/腭裂组与对照组中的差异最为显著（P=0.008,OR=1.500,95%CI=1.116~2.016）,rs4752028位点的等位基因频率在唇/腭裂组和对照组间亦存在显著差异（P=0.028,OR=1.424,95%CI=1.041~1.948）。结论染色体10q25区域的rs7078160和rs4752028位点与中国人群非综合征性唇腭裂的发病相关。

关键词: 非综合征性唇腭裂, 10q25, 单核苷酸多态性

Abstract: PURPOSE: To investigate the causal relationship between single nucleotide polymorphisms (SNPs) rs7078160, rs4752028 on chromosome 10q25 identified by genome-wide association studies (GWAS) in non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese population. METHODS: A total of 180 individuals were included as case group and 360 healthy subjects were enrolled as controls. The case group was divided into 4 subgroups: cleft lip only(CL), cleft lip and palate (CLP), cleft palate only (CPO), and cleft lip with or without cleft palate (CL/P) merged by CL and CLP. The peripheral blood of NSCL/P cases and control samples were collected and DNA was extracted. Two SNPs were performed for targeted sequencing and genotyped for a case-control association analysis. Statistical analysis was performed with SPSS 19.0 software package. Differences in genotype and allele frequencies were analyzed between case and control groups using Pearson χ² test. RESULTS: The allele frequency distribution of rs7078160 was significantly different between CL/P subgroup and control group (P=0.008, OR=1.500, 95%CI=1.116-2.016). The difference of allele frequency distribution between CL/P subgroup and control group for rs4752028 also had significant difference (P=0.028, OR=1.424, 95%CI=1.041-1.948). CONCLUSIONS: SNP rs7078160 and rs4752028 are associated with NSCL/P in Chinese population.

Key words: Nonsyndromic cleft lip with or without cleft palate, NSCL/P, 10q25, Single nucleotide polymorphisms

中图分类号:

R783.5

彭莉, 牛振民, 黄薇, 陈振琦. 染色体10q25位点多态性与中国非综合征性唇腭裂的关联研究[J]. 中国口腔颌面外科杂志, 2016, 14(4): 324-327.

PENG Li, NIU Zhen-min, HUANG Wei, CHEN Zhen-qi. Association of chromosome 10q25 polymorphisms with non-syndromic cleft lip with or without cleft palate in Chinese population[J]. China J Oral Maxillofac Surg, 2016, 14(4): 324-327.

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