scholarly journals Common genetic variants in metabolism and detoxification pathways and the risk of papillary thyroid cancer.

2012 ◽  
Vol 19 (3) ◽  
pp. 333-344 ◽  
Author(s):  
Briseis Aschebrook-Kilfoy ◽  
Gila Neta ◽  
Alina V Brenner ◽  
Amy Hutchinson ◽  
Ruth M Pfeiffer ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Metal Binding ◽  
Gene Interaction ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide ◽  
Logistic Regression Models ◽  
False Discovery ◽  
Common Genetic Variants

Relationships are unclear between polymorphisms in genes involved in metabolism and detoxification of various chemicals and papillary thyroid cancer (PTC) risk as well as their potential modification by alcohol or tobacco intake. We evaluated associations between 1647 tagging single nucleotide polymorphisms (SNPs) in 132 candidate genes/regions involved in metabolism of exogenous and endogenous compounds (Phase I/II, oxidative stress, and metal binding pathways) and PTC risk in 344 PTC cases and 452 controls. For 15 selected regions and their respective SNPs, we also assessed interaction with alcohol and tobacco use. Logistic regression models were used to evaluate the main effect of SNPs (Ptrend) and interaction with alcohol/tobacco intake. Gene- and pathway-level associations and interactions (Pgene interaction) were evaluated by combining Ptrend values using the adaptive rank-truncated product method. While we found associations between PTC risk and nine SNPs (Ptrend≤0.01) and seven genes/regions (Pregion<0.05), none remained significant after correction for the false discovery rate. We found a significant interaction between UGT2B7 and NAT1 genes and alcohol intake (Pgene interaction=0.01 and 0.02 respectively) and between the CYP26B1 gene and tobacco intake (Pgene interaction=0.02). Our results are suggestive of interaction between the genetic polymorphisms in several detoxification genes and alcohol or tobacco intake on risk of PTC. Larger studies with improved exposure assessment should address potential modification of PTC risk by alcohol and tobacco intake to confirm or refute our findings.

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

2015 ◽  
Vol 42 (4) ◽  
pp. 326-331 ◽  
Author(s):  
Young Gyu Eun ◽  
Young Chan Lee ◽  
Su Kang Kim ◽  
Joo-Ho Chung ◽  
Kee Hwan Kwon ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Papillary Thyroid Cancer ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide

scholarly journals Common Single Nucleotide Polymorphisms in Genes Related to Immune Function and Risk of Papillary Thyroid Cancer

PLoS ONE ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. e57243 ◽  
Author(s):  
Alina V. Brenner ◽  
Gila Neta ◽  
Erich M. Sturgis ◽  
Ruth M. Pfeiffer ◽  
Amy Hutchinson ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Immune Function ◽  
Papillary Thyroid Cancer ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide

Single nucleotide polymorphisms in matrix metalloproteinase 2 (MMP2) enhance BRAFV600E mutation-mediated oncogenicity and invasiveness of papillary thyroid cancer cells

2021 ◽  
Author(s):  
Avaniyapuram Kannan Murugan ◽  
Abeer Al-Amr ◽  
Mysoon M Al-Ansari ◽  
Pulicat S. Manogaran ◽  
Hindi Al-Hindi ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Papillary Thyroid Cancer ◽  
Braf Inhibitor ◽  
Matrix Metalloproteinase 2 ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide ◽  
Gelatinase Activity ◽  
Thyroid Cancers

Thyroid cancer is a common endocrine neoplasm. Despite its good prognosis, it can lead to significant mortality due to metastasis and recurrence. However, the factors involved in metastasis are not well studied. Therefore, we selected matrix metalloproteinases 2 (MMP2) and determined whether it has any role in thyroid cancer. We sequenced the exons of MMP2 in 211 samples including 16 multi-nodular goiters and 195 differentiated thyroid cancers. We identified four non-synonymous single nucleotide polymorphisms (SNPs) of the MMP2 gene in 3.06% (6/195) thyroid cancers. Of the 4 MMP2 SNPs, 3 (75%) concomitantly had BRAFV600E. Hence, we speculated that the MMP2 SNPs may likely cooperate with BRAFV600E in promoting tumor aggressiveness. Overexpression of two MMP2 SNPs (P38L and T458I) exhibited markedly enhanced gelatinase activity with an intact dimerization and induced strong cortactin foci formation in HEK293T cells. Stable expression of the two MMP2 SNPs in BRAFV600E positive BCPAP cells dramatically enhanced cell proliferation, colony formation, and focus formation. Analysis of the morphology of MMP2 SNP bearing BCPAPV600E cells exhibited highly invasive phenotypes characterized by a high rate of wound healing and enhanced cell invasion compared with parental BCPAPV600E cells bearing vector. We also determined that BCPAPV600E cells stably transfected with MMP2 SNPs were highly sensitive to the treatment of BRAF inhibitor, PLX4720. Our study demonstrates that MMP2 SNPs could cooperate with BRAFV600E to promote oncogenicity, migration, and invasiveness of PTC cells. These results suggest that a subset of papillary thyroid cancer with this genetic makeup can benefit from BRAF-mediated therapeutic interventions.

Single nucleotide polymorphisms associated with papillary thyroid cancer

2014 ◽  
Author(s):  
Dorota Kula ◽  
Kalemba Michal ◽  
Handkiewicz-Junak Daria ◽  
Puch Zbigniew ◽  
Kowalska Malgorzata ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Papillary Thyroid Cancer ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide

scholarly journals BAX gene (−248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil

2021 ◽  
pp. 172460082110575
Author(s):  
Ligia C.A. Cardoso-Duarte ◽  
Caroline F. Fratelli ◽  
Alexandre S.R. Pereira ◽  
Jéssica Nayane Gomes de Souza ◽  
Renata de Souza Freitas ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Protective Factor ◽  
Federal District ◽  
Genotypic Difference ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Genotype Frequencies ◽  
Bax Gene

Introduction Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (−248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. Objective The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (−248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. Methods This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. Results There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123–0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163–0.793). The BAX gene polymorphism (−248 G > A) was associated with papillary thyroid cancer. Conclusion BAX (−248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Logistic Regression Models ◽  
False Discovery ◽  
Beck Disease

Abstract Objective: We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods: Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls. The correlation between genetic polymorphisms and KBD risk were assessed using logistic regression models by calculating odds ratio (OR) and 95% confidence interval (CI). Results: After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, p = 0.024) and recessive (OR = 16.39, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, p = 0.048). However, no strong relationships were observed after false discovery rate correction. In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion: COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

scholarly journals Common genetic variants related to genomic integrity and risk of papillary thyroid cancer

2011 ◽  
Vol 32 (8) ◽  
pp. 1231-1237 ◽  
Author(s):  
Gila Neta ◽  
Alina V. Brenner ◽  
Erich M. Sturgis ◽  
Ruth M. Pfeiffer ◽  
Amy A. Hutchinson ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Genetic Variants ◽  
Papillary Thyroid ◽  
Genomic Integrity ◽  
Common Genetic Variants

Polymorphisms of the Highly Expressed IL-6 Gene in the Papillary Thyroid Cancer Susceptibility Among Chinese

2019 ◽  
Vol 19 (6) ◽  
pp. 443-451 ◽  
Author(s):  
Honghui Li ◽  
Hao Dai ◽  
Huajing Li ◽  
Baiya Li ◽  
Yuan Shao
Keyword(s):  
Risk Factor ◽  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Cancer Susceptibility ◽  
Additive Model ◽  
In Silico Analysis ◽  
The Cancer Genome Atlas ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid

Background: Papillary thyroid cancer (PTC) is the cardinal histologic type of thyroid cancer, which is the most prevalent kind of endocrine malignancy. The expression of IL-6 is found higher in thyroid carcinoma (THCA) samples than paired normal tissues based on The Cancer Genome Atlas (TCGA) and Genotype-Tissue expression (GTEx) database. In this study, we aimed to investigate the association between interleukin-6 (IL-6) polymorphisms and the PTC risk. Methods: A case-control study was designed using the following data: 241 PTC patients and 463 healthy controls. Five single nucleotide polymorphisms (SNPs) in IL-6 were selected and genotyped using Agena MassARRAY technology. Results: Our results revealed that SNP rs1800796 was associated with an increased PTC risk in co-dominant model (p = 0.042) and dominant model (p = 0.027). Rs1524107 was also a risk factor for PTC susceptibility in co-dominant model (p = 0.003), dominant model (p = 0.002) and log-additive model (p = 0.044). Moreover, rs2066992 significantly increased the PTC risk in co-dominant model and dominant model (p = 0.011, p = 0.009, respectively). Additionally, rs2069837 variant elevated the PTC risk based on dominant model (p = 0.041). In silico analysis, GTEx results for rs1800796, rs1524107 and rs2066992 variants are known to be associated with IL-6 gene expression. Using HaploReg, we found rs1800796, rs1524107 and rs2066992 in LD with functional importance. Conclusion: Our study indicates that IL-6 variants may be a risk factor involved in the pathogenesis and development of PTC.

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