Association between single nucleotide polymorphisms of upstream transcription factor 1 ( USF 1 ) and susceptibility to papillary thyroid cancer

Summary Background Thyroid cancer, predominantly by papillary thyroid cancer ( PTC ), is a malignant tumour of endocrine system with increasing incidence rate worldwide. Upstream transcription factor 1 ( USF 1 ) regulates a variety of biological processes by transactivation of functional genes. In this study, we investigated the association between USF 1 polymorphisms and PTC risk. Material & Methods A total of 334 patients with PTC , 186 patients with benign nodules ( BN ) and 668 healthy controls were enrolled in our study. Tag‐ SNP s were identified in Chinese Han in Beijing ( CHB ) from International HapMap Project Databases. Genomic DNA s were extracted by TaqMan Blood DNA kits. SNP s of USF 1 were genotyped by TaqMan SNP s genotyping assay. Odds ratios ( OR ) and corresponding 95% confidence interval ( CI ) were used to assess the association between USF 1 genetic variants and PTC risk. The statistical analyses were carried out with spss 13.0 software. Results Five tag‐ SNP s were retrieved to capture all the genetic variants of USF 1 . Among the five tag‐ SNP s, genetic variants in rs2516838, rs3737787 and rs2516839 have significant association with PTC risk. The rs2516838 polymorphisms dominant model ( CG + GG vs CC : OR  = 0·71; 95% CI : 0·52–0·97; P  = 0·033) and allelic model (C vs G: OR  = 0·031; 95% CI : 0·56–0·97; P  = 0·031) indicated it may act as a protective factor against PTC . On the contrary, the results of rs3737787 polymorphisms: dominant model ( CT + TT vs CC : OR  = 1·55; 95% CI : 1·09–2·02; P  = 0·001) and allelic model (C vs T: OR  = 1·35; 95% CI : 1·10–1·64; P  = 0·003), as well as the results of rs2516839 polymorphisms: dominant model ( GA + AA vs GG : OR  = 1·77; 95% CI : 1·31–2·38; P  < 0·001) and allelic model (G vs A: OR  = 1·36; 95% CI : 1·13–1·63; P  = 0·014), revealed that they may act as risk factors for PTC . Conclusion In this study, we found the SNP s of rs2516838 (mutant G alleles vs wild C alleles), rs3737787 (mutant T alleles vs wild C alleles) and rs2516839 (mutant A alleles vs wild G alleles) were significantly associated with PTC risk. Further large‐scale studies with different ethnicities are still needed to validate our findings and explore the underlying mechanism of USF 1 in PTC development.