TPM1 Polymorphisms and Nonsyndromic Orofacial Clefts Susceptibility in a Chinese Han Population
TPM1 Polymorphisms and Nonsyndromic Orofacial Clefts Susceptibility in a Chinese Han Population
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中国汉族人群中 TPM1 多态性和非综合征性口颌面裂易感性。
DOI：
10.1002/ajmg.a.37561
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发表时间：
2016
影响因子：
2
通讯作者：
Wang Lin
中科院分区：
文献类型：
--
作者：
Qian Yajing;Li D;an;Ma Lan;Zhang Hongchuang;Gong Miao;Li Sheng;Yuan Hua;Zhang Weibing;Ma Junqing;Jiang Hongbing;Pan Yongchu;Wang Lin
TPM 1位于非综合征性口面裂（NSOC）易感区域15 q22，编码一组高度保守的普遍存在的肌动蛋白结合蛋白，参与肌肉收缩和细胞骨架组织。考虑到TPM 1基因的多重功能，我们研究了TPM 1基因多态性与中国汉族人群NSOC风险的潜在关系。选择TPM 1的4个标签单核苷酸多态性（tSNP）（rs 11071720、rs3803499、rs 12148828和rs 1972041），对来自中国汉族人群的673例NSOC患者和705例无关健康对照进行病例对照研究。通过IPLEX Sequenom MassARRAY平台对SNP进行基因分型。SNP rs 1972041 GA可降低杂合子NSOC的发生风险（P= 0.038，OR = 0.77，95%CI = [0.61，0.99]）。进一步分层分析显示，在共显性或显性模型下，rs 197204处的次要等位基因G对唇腭裂（CLP）和唇腭裂伴或不伴唇腭裂（CL/P）组的保护作用增强。TPM 1基因多态性可能与NSOC的发生有关，在颅面发育过程中应加强对TPM 1基因的研究。© 2016 Wiley Periodicals，Inc.
Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1encodes a group of highly conserved ubiquitous actin‐binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions ofTPM1gene, we investigated the potential relationship betweenTPM1polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) ofTPM1(rs11071720, rs3803499, rs12148828, and rs1972041) were selected to conduct a case‐control study with 673 NSOC patients and 705 unrelated healthy controls from a Chinese Han population. The SNPs were genotyped by the IPLEX Sequenom MassARRAY platform. SNP rs1972041GA showed a decreased risk of NSOC in heterozygotes (P= 0.038, OR = 0.77, 95%CI = [0.61, 0.99]). Further stratified analysis revealed an enhanced protective effect of the minor allele G at rs197204 on lip with cleft palate (CLP) and cleft lip with or without cleft palate (CL/P) groups under a codominant or dominant model. No association was observed between the remaining three markers (rs11071720, rs3803499, and rs12148828) and NSOC as well as its subgroups.TPM1polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed onTPM1during craniofacial development. © 2016 Wiley Periodicals, Inc.