Single nucleotide polymorphisms of the Fas gene are associated with papillary thyroid cancer

Eun, Young Gyu; Lee, Young Chan; Kim, Su Kang; Chung, Joo‐Ho; Kwon, Kee Hwan; Park, Il Seok

doi:10.1016/j.anl.2015.02.001

Cited by 7 publications

(4 citation statements)

References 46 publications

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“…The aberrant expression of FAS and FASL is observed in many human malignancies, including cervical cancer . Several functional polymorphisms (e.g., FAS , rs2234767; FAS , rs1800682; and FASL , rs763110) have been reported to be associated with various tumors, such as papillary thyroid cancer, bladder cancer, breast cancer, and esophageal cancer . However, the mechanisms underlying the association between these three SNPs and the risk of cervical cancer remain inconclusive …”

Section: Introductionmentioning

confidence: 99%

A novel mechanism of rs763110 polymorphism contributing to cervical cancer risk by affecting the binding affinity of C/EBPβ and OCT1 complex to chromatin

Wang

et al. 2016

Intl Journal of Cancer

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Recently, several studies have showed that FAS (rs2234767, rs1800682) and FASL (rs763110) functional single nucleotide polymorphisms (SNPs) were associated with the risk of various cancers. However, the association between cervical cancer risk and the three SNPs above remained inconclusive. In this work, we performed a two-stage case-control study on 1155 cervical cancer patients and 1252 matched healthy controls to determine the roles of the mentioned SNPs in cervical cancer susceptibility. We genotyped the FAS rs2234767, rs1800682, and FASL rs763110 polymorphisms using PCR-TaqMan assays. Results revealed that the rs763110 TT genotype significantly increased the risk of cervical cancer compared with the CC/CT genotype (adjusted OR = 1.70, 95% CI = 1.19-2.42). However, we did not observe any association between the cervical cancer risk and the rs2234767 and rs1800682 polymorphisms. The immunohistochemistry assay showed that patients carrying the rs763110 TT genotype presented a lower cancerous FASL expression than that of the CC/CT genotypes. Chromatin immunoprecipitation (ChIP) and Sequential Chromatin immunoprecipitation assays also demonstrated that OCT1 was recruited to the FASL promoter region and regulated the FASL gene transcription by interacting with C/EBPβ. In conclusion, this study provided evidence indicating that the rs763110 variant in the FASL promoter was associated with the risk of cervical cancer by affecting the binding affinity of the C/EBPβ/OCT1 complex to chromatin.

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Section: Introductionmentioning

confidence: 99%

A novel mechanism of rs763110 polymorphism contributing to cervical cancer risk by affecting the binding affinity of C/EBPβ and OCT1 complex to chromatin

Wang

et al. 2016

Intl Journal of Cancer

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“…Studies have shown that SNPs in regulatory and coding regions can modify disease, particularly cancer research studies 52 , 53 . SNPs can affect tumor size, anti-tumor drug sensitivity and patient prognosis.…”

Section: Discussionmentioning

confidence: 99%

The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF

Lin

et al. 2017

Sci Rep

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Abnormal level of Cx43 expression could result in CHD. Epigenetic modification and disease-associated, non-coding SNPs might influence gene transcription and expression. Our study aimed to determine the role of histone modification and an rSNP (rs2071166) in the Cx43 promoter in patients with TOF. Our results indicate that H3K18ac bind to Cx43 promoter and that their levels are reduced in TOF patients relative to controls. The relationship between the non-coding SNP in the Cx43 gene and TOF patients was evaluated in 158 patients and 300 controls. The C allele of rs2071166 was confirmed to result in an increased risk of TOF (OR = 1.586, 95%CI 1.149–2.189). Individuals with the CC genotype at rs2071166 also showed a significant susceptibility to TOF (OR = 2.961, 95%CI 1.452–6.038). The mRNA level in TOF who were CC genotype was lower than that in patients with the AA/AC genotype. Functional analysis in cells and transgenic zebrafish models showed that rs2071166 decreased the activity of the promoter and could block the interaction between RXRα and RARE. This is the first study to illustrate that epigenetic modification and an rSNP in the Cx43 promoter region play a critical role in TOF by impacting the transcriptional activity and expression level of Cx43.

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“…TC led the fifth most common cancer in women in the United States [2], while the estimates of cancer incident cases and deaths were 143.9 thousand and 6500 respectively in China [3]. Although the exact pathophysiologic mechanisms of TC remained elusive, accumulating evidence indicated that the inter-individual genetic factors, especially the single nucleotide polymorphisms (SNPs) in tumor-associated genes took essential part in the genetic susceptibility to TC [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Influence of Interleukin-18 and Interleukin-17 Receptor A gene polymorphisms on the risk of thyroid cancer among Chinese Han population

Yin

Tong

et al. 2019

Preprint

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Background Thyroid cancer (TC) is a common endocrine pathology with an increasing incidence worldwide. It has been reported that high genetic impact is involved in the pathogenesis of TC, as well as cytokines, especially the interleukins play a crucial role in it. This study was designed to detect the association of IL-18 and IL-17RA polymorphisms with TC risk.Methods This case-control study conducted 365 TC patients and 503 healthy controls from Chinese Han population. Three selected SNPs (IL-18 rs360718, IL-18 rs1946519, and IL-17RA rs4819554) were genotyped to investigate the possible association of the polymorphisms with the risk of TC. Multifactor dimensionality reduction (MDR) was used to analyze the interactions of SNP-SNP.Results IL-17RA rs4819554 was associated with the decreased risk of TC under dominant model (OR = 0.76, 95% CI = 0.56-0.99, p = 0.04). IL-18 rs360718 significantly decreased the risk at age ≤ 44 years (C vs. A, OR = 0.63, 95% CI = 0.41-00.97, p = 0.033; CC vs. AA, OR = 0.12, 95% CI = 0.01-0.91, p = 0.040). On the contrast, among people older than 44 years, IL-18 rs1946519 (C vs. A, OR = 1.77, 95% CI = 1.03-3.06, p = 0.040) shown an increased risk with TC. MDR analysis revealed a positive interaction between the SNPs.Conclusion The present study firstly demonstrated that IL-18 rs360718, rs1946519 and IL-17RA rs4819554 polymorphisms might be related to thyroid cancer. The results were significantly worthy of further validation by larger studies.

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Single nucleotide polymorphisms of the Fas gene are associated with papillary thyroid cancer

Cited by 7 publications

References 46 publications

A novel mechanism of rs763110 polymorphism contributing to cervical cancer risk by affecting the binding affinity of C/EBPβ and OCT1 complex to chromatin

A novel mechanism of rs763110 polymorphism contributing to cervical cancer risk by affecting the binding affinity of C/EBPβ and OCT1 complex to chromatin

The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF

Influence of Interleukin-18 and Interleukin-17 Receptor A gene polymorphisms on the risk of thyroid cancer among Chinese Han population

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