ArticleBMC genetics2015
Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population.
Article in BMC genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 5 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 5 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis.BMC medical genetics · 2018Pooled it
- Pooled it
- rs965513 polymorphism as a common risk marker is associated with papillary thyroid cancer.Oncotarget · 2016Pooled it
- Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma.Scientific reports · 2021Trial
- Polymorphisms of DNA Repair Genes in Thyroid Cancer.International journal of molecular sciences · 2024Review
- Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism.Endocrinology · 2022Article
- Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (Journal of the Endocrine Society · 2022Article
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Network-Based Analysis Reveals Association of FOXE1 Gene Polymorphisms in Thyroid Cancer Patients; A Case-Control Study in Southeast of Iran.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Association of rs944289, rs965513, and rs1443434 in TITF1/TITF2 with Risks of Papillary Thyroid Carcinoma and with Nodular Goiter in Northern Chinese Han Populations.International journal of endocrinology · 2020Article
- The Contribution of Genetic Variants to the Risk of Papillary Thyroid Carcinoma in the Kazakh Population: Study of Common Single Nucleotide Polymorphisms and Their Clinicopathological Correlations.Frontiers in endocrinology · 2020Article
- Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.Molecular cancer · 2018Review
- Lack of Associations of the MDM4 rs4245739 Polymorphism with Risk of Thyroid Cancer among Iranian-Azeri Patients: a Case-Control StudyAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Article
- Association between SNPs in Long Non-coding RNAs and the Risk of Female Breast Cancer in a Chinese Population.Journal of Cancer · 2017Article
- Article
- Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk.Medicine · 2016Article
- Polymorphisms in selected DNA repair genes and cell cycle regulating genes involved in the risk of papillary thyroid carcinoma.Cancer biomarkers : section A of Disease markers · 2016Article
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Authors and funding
21 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundThe incidence of differentiated thyroid carcinoma (DTC) in Cuba is low and the contribution of host genetic factors to DTC in this population has not been investigated so far. Our goal was to assess the role of known risk polymorphisms in DTC cases living in Havana. We genotyped five polymorphisms located at the DTC susceptibility loci on chromosome 14q13.3 near NK2 homeobox 1 (NKX2-1), on chromosome 9q22.33 near Forkhead factor E1 (FOXE1) and within the DNA repair gene Ataxia-Telangiectasia Mutated (ATM) in 203 cases and 212 age- and sex- matched controls. Potential interactions between these polymorphisms and other DTC risk factors such as body surface area, body mass index, size, ethnicity, and, for women, the parity were also examined.
resultsSignificant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. Overall, no association between DTC and the coding SNP D1853N (rs1801516) in ATM (OR per A Allele = 1.1, 95% CI: 0.7-1.7) was seen. Nevertheless women who had 2 or more pregnancies had a 3.5-fold increase in risk of DTC if they carried the A allele (OR 3.5, 95% CI: 3.2-9.8) as compared to 0.8 (OR 0.8, 95% CI: 0.4-1.6) in those who had fewer than 2.
conclusionsWe confirmed in the Cuban population the role of the loci previously associated with DTC susceptibility in European and Japanese populations through genome-wide association studies. Our results on ATM and the number of pregnancies raise interesting questions on the mechanisms by which oestrogens, or other hormones, alter the DNA damage response and DNA repair through the regulation of key effector proteins such as ATM. Due to the small size of our study and to multiple tests, all these results warrant further investigation.
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