TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population

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• 作者：Yajing Qian ; Dandan Li ; Lan Ma ; Hongchuang Zhang ; Miao Gong ; Sheng Li ; Hua Yuan ; Weibing Zhang ; Junqing Ma ; Hongbing Jiang ; Yongchu Pan and Lin Wang
• 关键词：TPM1 ; nonsyndromic orofacial clefts ; single nucleotide polymorphisms ; case-control study
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：170
• 期：5
• 页码：1208-1215
• 全文大小：161K
• ISSN：1552-4833

文摘

Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1 encodes a group of highly conserved ubiquitous actin-binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions of TPM1 gene, we investigated the potential relationship between TPM1 polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) of TPM1 (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. TPM1 polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed on TPM1 during craniofacial development.