The Common Genetic Variant rs944289 on Chromosome 14q13.3 Associates with Risk of Both Malignant and Benign Thyroid Tumors in the Japanese Population

Rogounovitch, Tatiana; Bychkov, Andrey; Takahashi, Meiko; Mitsutake, Norisato; Nakashima, Masahiro; Nikitski, Alyaksandr V.; Hayashi, Tomayoshi; Hirokawa, Mitsuyoshi; Ishigaki, Katsu; Shigematsu, Kazuto; Bogdanova, Tetiana; Matsuse, Michiko; Nishihara, Eijun; Minami, Shigeki; Yamanouchi, Kaoru; Ito, Masahiro; Kawaguchi, Takahisa; Kondo, Hisayoshi; Takamura, Noboru; Ito, Yasuhiro; Miyauchi, Akira; Matsuda, Fumihiko; Yamashita, Shunichi; Saenko, Vladimir

doi:10.1089/thy.2014.0431

Cited by 38 publications

(39 citation statements)

References 25 publications

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“…As observed in our Colombian study, where tumor size information was readily available for most cases, only large tumors showed an association with rs6983267G. This finding, although obtained in only 235 cases, is consistent with a recent report from Japan, that used samples that overlapped with the present study, and that failed to detect associations between rs6983267G and pre-malignant lesions (follicular adenomas) in the thyroid (Rogounovitch et al 2015). Although more detailed studies with larger sample size are needed to further confirm this observation, our preliminary data in a small patient population from Colombia is indicative of a stronger association with larger tumors.…”

Section: Discussionsupporting

confidence: 93%

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk

Sahasrabudhe

Estrada

Lott

et al. 2015

Endocrine-Related Cancer

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The G allele of the rs6983267 single nucleotide polymorphism, located on chromosome 8q24, has been associated with increased risk of several cancer types. The association between rs6983267G and thyroid cancer has been tested in different populations, mostly of European ancestry, and has led to inconclusive results. While significant associations have been reported in the British and Polish populations, no association has been detected in populations from Spain, Italy and the USA. To further investigate the role of rs6983267G in thyroid cancer susceptibility, we evaluated rs6983267 genotypes in three populations of different continental ancestry (British Isles, Colombia and Japan), providing a total of 3,067 cases and 8,575 controls. We detected significant associations between rs6983267G and thyroid cancer in the British Isles (Odds Ratio, OR= 1.19, 95% confidence interval, CI: 1.11–1.27, P= 4.03 × 10−7), Japan (OR= 1.20, 95% CI: 1.03–1.41, P= 0.022) and a borderline significant association of similar effect direction and size in Colombia (OR= 1.19, 95% CI: 0.99–1.44, P= 0.069). A meta-analysis of our multi-ethnic study and previously published non-overlapping datasets, which included a total of 5,484 cases and 12,594 controls, confirmed the association between rs6983267G and thyroid cancer (P= 1.23 × 10−7, OR= 1.13, 95% CI: 1.07–1.18). Our results therefore support the notion that rs6983267G is a bona fide thyroid cancer risk variant that increases the risk of disease by ~13%.

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Section: Discussionsupporting

confidence: 93%

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk

Sahasrabudhe

Estrada

Lott

et al. 2015

Endocrine-Related Cancer

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“…Subsequently, several replication studies validated the association between rs2439302 and thyroid cancer (Supplementary Table 1)151721. Neuregulin 1, which is encoded by the NRG1 gene and acts on the ERBB family of tyrosine kinase receptors, could behave as a tumour suppressor in breast cancer cells22.…”

Section: Discussionmentioning

confidence: 92%

Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer

et al. 2017

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Thyroid cancer is the most common cancer in Korea. Several susceptibility loci of differentiated thyroid cancer (DTC) were identified by previous genome-wide association studies (GWASs) in Europeans only. Here we conducted a GWAS and a replication study in Koreans using a total of 1,085 DTC cases and 8,884 controls, and validated these results using expression quantitative trait loci (eQTL) analysis and clinical phenotypes. The most robust associations were observed in the NRG1 gene (rs6996585, P=1.08 × 10−10) and this SNP was also associated with NRG1 expression in thyroid tissues. In addition, we confirmed three previously reported loci (FOXE1, NKX2-1 and DIRC3) and identified seven novel susceptibility loci (VAV3, PCNXL2, INSR, MRSB3, FHIT, SEPT11 and SLC24A6) associated with DTC. Furthermore, we identified specific variants of DTC that have different effects according to cancer type or ethnicity. Our findings provide deeper insight into the genetic contribution to thyroid cancer in different populations.

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“…Furthermore, a future study is warranted with multiple cell lines and original tumor samples. Another study showed that the SNP rs944289 was found to be associated with an increased risk of both benign and malignant thyroid tumors in Japanese patients (Rogounovitch et al 2015). Although the expression of PTCSC3 is highly thyroid-tissue-specific, no somatic mutations or new SNPs were found in the PTCSC3 gene.…”

Section: Ptcsc3 (Papillary Thyroid Carcinoma Susceptibility Candidate 3)mentioning

confidence: 99%

Long noncoding RNAs: emerging players in thyroid cancer pathogenesis

Murugan

Munirajan

Alzahrani

2018

Endocrine-Related Cancer

110

103

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Thyroid cancer continues to be the most common malignancy of endocrine glands. The incidence of thyroid cancer has risen significantly over the past 4 decades and has emerged as a major health issue. In recent years, significant progress has been achieved in our understanding of the molecular mechanisms of thyroid carcinogenesis, resulting in significant diagnostic, prognostic and therapeutic implications; yet, it has not reached a satisfactory level. Identifying novel molecular therapeutic targets and molecules for diagnosis and prognosis is expected to advance the overall management of this common malignancy. Long noncoding RNAs (lncRNAs) are implicated in the regulation of various key cellular genes involved in cell differentiation, proliferation, cell cycle, apoptosis, migration and invasion mainly through modulation of gene expression. Recent studies have established that lncRNAs are deregulated in thyroid cancer. In this review, we discuss extensively the tumor-suppressive (for example, LINC00271, MEG3, NAMA, PTCSC1/2/3, etc.) and oncogenic (for example, ANRIL, FAL1, H19, PVT1, etc.) roles of various lncRNAs and their possible disease associations implicated in thyroid carcinogenesis. We briefly summarize the strategies and mechanisms of lncRNA-targeting agents. We also describe the potential role of lncRNAs as prospective novel therapeutic targets, and diagnostic and prognostic markers in thyroid cancer.

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The Common Genetic Variant rs944289 on Chromosome 14q13.3 Associates with Risk of Both Malignant and Benign Thyroid Tumors in the Japanese Population

Cited by 38 publications

References 25 publications

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk

Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer

Long noncoding RNAs: emerging players in thyroid cancer pathogenesis

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