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Qian Y.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | Li D.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | Ma L.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | Gong M.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | And 7 more authors.
American Journal of Medical Genetics, Part A | Year: 2016

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. © 2016 Wiley Periodicals, Inc. Source


Yuan H.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | Liu L.,Digestive Endoscopy CenterThe First Affiliated Hospital of Nanjing Medical UniversityNanjingChina | Miao L.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina | Chen N.,Jiangsu Key Laboratory of Oral DiseasesNanjing Medical UniversityNanjingChina
Molecular Carcinogenesis | Year: 2016

KITLG/KIT pathway plays a vital role in multiple types of human cancer including head and neck squamous cell carcinoma (HNSCC). Genetic variations in KITLG and KIT may affect the expression or function of these genes, thereby modifying cancer risk. In this study, we evaluated the association of KITLG and KIT polymorphisms with HNSCC risk among Chinese population. Twenty-two tagging SNPs in KITLG and KIT genes were genotyped in a case-control study with 576 HNSCC patients and 1552 healthy controls. Logistic regression analyses revealed that an upstream SNP rs6554198 [additive model: adjusted odds ratio (OR)=0.85, 95% confidence interval (CI)=0.74-0.97, P=0.019] and two intron SNPs rs2237025 (additive model: adjusted OR=0.82, 95%CI=0.70-0.95, P=0.007), and rs17084687 (additive model: adjusted OR=0.85, 95%CI=0.73-0.99, P=0.042) of KIT were significantly associated with the decreased risk of HNSCC. Combined analysis of the three SNPs showed that subjects carrying the protective alleles had decreased risk of HNSCC in a dose-response manner (Ptrend=0.001). Furthermore, interaction analyses revealed a significant multiplicative interaction between rs17084687 and drinking on HNSCC risk (P=0.012). Luciferase activity assay indicated that the allele A of potentially functional rs6554198 led to significantly lower transcription activity of KIT compared to the risk allele G. Summarily, our findings suggested that SNPs in KIT gene may play a role in genetic susceptibility to HNSCC, which may improve our understanding of the pathogenic mechanisms of this disease. © 2016 Wiley Periodicals, Inc. Source

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