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Association between FOXP3 gene polymorphisms and risk of differentiated thyroid cancer in Chinese Han population.

ABSTRACT: BACKGROUND:Foxp3 plays important roles in autoimmune and inflammatory diseases as well as human malignancies. This study aimed to investigate the association between Foxp3 gene polymorphisms and the susceptibility to differentiated thyroid cancers (DTC). METHODS:Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 350 DTC patients and 306 healthy controls. FOXP3 relative expression was measured by real-time quantitative PCR (qRT-PCR). RESULTS:AA/AC genotype of Foxp3-rs3761548 was associated with a higher risk of DTC. The frequency of Foxp3-rs2280883 CC/CT genotype was lower in DTC patients. Besides, the AA/AC genotype of rs3761548 was more frequent in female DTC than male DTC. The association between two single nucleotide polymorphisms (SNPs) and clinical characteristics of DTC was further analyzed. We found that rs3761548 AA/AC genotype was more frequent in severe DTC patients (tumor diameter >1 cm) compared with the relative tender DTC patients (tumor diameter <1 cm). On the contrast, the frequency of rs2280883 CC/CT genotype was lower in severe DTC patients. In addition, the Foxp3 relative expression in DTC with AA/AC genotype of rs3761548 was higher than that of DTC with CC genotype. CONCLUSION:Our findings suggested that Foxp3 polymorphisms were associated with the risk of DTC in Chinese Han population.

SUBMITTER: Jiang W

PROVIDER: S-EPMC6817120 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Association between FOXP3 gene polymorphisms and risk of differentiated thyroid cancer in Chinese Han population.

Jiang Weichao W Zheng Lei L Xu Lijuan L Zhang Yang Y Liu Xingxin X Hu Lihua L Wang Xiaobei X

Journal of clinical laboratory analysis 20161128 5

<h4>Background</h4>Foxp3 plays important roles in autoimmune and inflammatory diseases as well as human malignancies. This study aimed to investigate the association between Foxp3 gene polymorphisms and the susceptibility to differentiated thyroid cancers (DTC).<h4>Methods</h4>Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 350 DTC patients and 306 healthy controls. FOXP3 relative expression was measured by real-time quantitative PCR ( ...[more]

PMID: 27892628

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Project description:Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (?2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, ?2=8.258, p=0.016) and rs12427141 (Allele, ?2=3.992, p=0.046; Genotype, ?2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur between nodular goiter and PTC.

Dataset Information

Association between FOXP3 gene polymorphisms and risk of differentiated thyroid cancer in Chinese Han population.

Publications

Association between FOXP3 gene polymorphisms and risk of differentiated thyroid cancer in Chinese Han population.

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