Dataset Information

Association between a functional polymorphism (-1195T>C) in the IGFBP5 promoter and head and neck cancer risk.

ABSTRACT: To the best of our knowledge, no studies to date have evaluated roles of insulin-like growth factor binding protein 5 (IGFBP5) polymorphisms in risk of squamous cell carcinoma of the head and neck (SCCHN).A hospital-based study of 1082 patients with SCCHN and 1120 cancer-free controls was performed to investigate associations between 2 functional polymorphisms, -1195T>C and -709G>C, in the IGFBP5 promoter region and SCCHN risk.We demonstrated that the transcription factor, activator protein 1 (AP-1), differentially bound to T or C variants at -1195 in the promoter to regulate the IGFBP5 promoter activity and that the C variant genotypes were associated with deferential risk of late-stage SCCHN, compared to the TT genotype, particularly for human papillomavirus (HPV)-unrelated sites (adjusted odds ratio [OR], 2.21; 95% confidence interval [CI], 1.19-4.11 for CC vs TT).The IGFBP5 -1195T>C polymorphism is functional and may potentially be a biomarker for susceptibility to late-stage SCCHN.

SUBMITTER: Niu J

PROVIDER: S-EPMC3023825 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Association between a functional polymorphism (-1195T>C) in the IGFBP5 promoter and head and neck cancer risk.

Niu Jiangong J Huang Yu-Jing YJ Wei Sheng S Liu Zhensheng Z Wang Li-E LE Chang Shine S Chamberlain Robert M RM El-Naggar Adel K AK Sturgis Erich M EM Wei Qingyi Q

Head & neck 20101014 5

<h4>Background</h4>To the best of our knowledge, no studies to date have evaluated roles of insulin-like growth factor binding protein 5 (IGFBP5) polymorphisms in risk of squamous cell carcinoma of the head and neck (SCCHN).<h4>Methods</h4>A hospital-based study of 1082 patients with SCCHN and 1120 cancer-free controls was performed to investigate associations between 2 functional polymorphisms, -1195T>C and -709G>C, in the IGFBP5 promoter region and SCCHN risk.<h4>Results</h4>We demonstrated th ...[more]

PMID: 20949447

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Project description:BackgroundMMP1 is an important member of the MMP endopeptidase family that plays a critical role in the development of head and neck cancer (HNC). Several studies have investigated the association between the MMP1 -1607 1G>2G polymorphism and risk of HNC, but their results have been inconsistent. Here, we conducted a meta-analysis to further explore the role of the MMP1 -1607 1G>2G polymorphism in HNC development.MethodsWe identified all eligible studies in the electronic databases of PubMed, ISI Web of Knowledge, MEDLINE, Embase, and Google Scholar (from January 2000 to June 2012). A meta-analysis was performed to evaluate the association between the MMP1 -1607 1G>2G polymorphism and risk of HNC by calculating odds ratios (OR) and 95% confidence interval (CIs).ResultsTwelve studies were included in this meta-analysis. In overall comparison, significant associations were found using the recessive and allelic contrast models (OR, 1.38; 95% CI, 1.07-1.79 and OR, 1.27; 95% CI, 1.05-1.53, respectively), but no association was detected using the dominant model. In the stratified analyses by several variables, significant associations were observed using the recessive, dominant, and allelic contrast models in the Asian population (OR, 1.64; 95% CI, 1.29-2.08; OR, 1.39; 95% CI, 1.06-1.82; and OR, 1.41; 95% CI, 1.21-1.65, respectively), European population (OR, 0.58; 95% CI, 0.40-0.84; OR, 0.64; 95% CI, 0.44-0.92; and OR, 0.68; 95% CI, 0.54-0.85, respectively), and population-based subgroup (OR, 1.24; 95% CI,1.05-1.47; OR,1.48; 95% CI,1.04-2.12; and OR, 1.22; 95% CI, 1.07-1.38, respectively). Furthermore, significant associations were detected in oral cavity cancer and nasopharyngeal cancer under the recessive model.ConclusionOur results suggest that the MMP1 -1607 1G>2G polymorphism is associated with risk of HNC and that it plays different roles in Asian and European populations. Further studies with large sample size are needed to validate our findings.

Project description:A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population. However, at present, the role of this particular SNP with TERT promoter driver mutations and its genetic association with human papilloma virus (HPV) in patients with cervical cancer has not been determined. In the present study, the genetic association of the functional SNP rs2853669 in the presence/absence of TERT promoter hotspot mutations and HPV in patients with cervical cancer of South Indian origin was evaluated. To understand and compare the frequency of the variant allele and its risk association in different cancer types of various populations, the SNP was genotyped in 257 cervical cancer samples and 295 controls, and its associations with TERT promoter hotspot mutations and HPV were analyzed. Furthermore, an extensive search of previously published articles in PubMed, Embase and Web of Science was conducted; a meta-analysis was carried out to elucidate the association of the SNP with different cancer types in global populations. The SNP analysis showed significantly high frequency (41%) of homozygous variant allele rs2853669 (GG) in patients with cervical cancer compared with control samples [Recessive allele model odds ratio (OR)=1.71; 95% CI=1.20-2.43; P=0.003]. No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study. In addition, the overall meta-analysis revealed a significant association of the SNP rs2853669 with other cancer types in different ethnic populations (OR=1.09; 95% CI=1.03-1.16; P=0.004). The present results suggested that the TERT SNP rs2853669 could play an important role in the risk of cervical cancer in a South Indian population.

Dataset Information

Association between a functional polymorphism (-1195T>C) in the IGFBP5 promoter and head and neck cancer risk.

Publications

Association between a functional polymorphism (-1195T>C) in the IGFBP5 promoter and head and neck cancer risk.

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