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- Title
Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.
- Authors
Shen, Chen-Tian; Zhang, Guo-Qiang; Qiu, Zhong-Ling; Song, Hong-Jun; Sun, Zhen-Kui; Luo, Quan-Yong
- Abstract
Purposess: The purpose of this study was using next-generation sequencing technique to explore the potential association between germline variants of 14 targeted genes and papillary thyroid carcinoma (PTC) predisposition as well as disease progression. Methods: In all, 516 subjects were enrolled in this study including 416 PTC patients and 100 healthy controls. PTC patients were divided into distant metastasis group and non-distant metastasis group. Patients in distant metastasis group were further divided into radioiodine-refractory PTC (RR-PTC) and non-RR-PTC depending on their response to radioiodine therapy. Genomic DNA was extracted from peripheral blood sample and MiSeq Benchtop Sequencer was used for sequencing. Results: We found rs11246050 in NLRP6 (dominant model, OR/95% CI: 2.028/1.091–3.769, p = 0.025), rs2286742 and rs3740530 in HABP2 (recessive model, OR/95% CI: 9.644/1.307–71.16, p = 0.026 and 3.989/1.413–11.26, p = 0.009), rs2736098 in TERT (recessive model, OR/95% CI: 2.322/1.028–5.242. p = 0.042) and rs62054619 in GAS8-AS1 (recessive model, OR/95% CI: 2.219/1.067–4.617, p = 0.033) were associated with the risk of PTC. rs1137282 in KRAS (dominant model, OR/95% CI: 0.5430/0.3192–0.9236, p = 0.024), rs1347591 and rs4461062 in NUP93 (dominant model, OR/95% CI: 0.6121/0.4128–0.9076, p = 0.015 and 0.6156/0.4157–0.9117, p = 0.015) were associated with low risk of distant metastatic disease in PTC patients. rs33954691 in TERT was associated with the risk of RR-PTC under dominant model (OR/95% CI: 3.161/1.596–6.262). Conclusions: Germline variants of related genes could be associated with the susceptibility of PTC as well as disease progression (distant metastasis and radioiodine-refractory status). However, these results must be further verified and the potential biological functions of these germline variants in the pathogenesis of PTC remain to be determined in future studies.
- Publication
Endocrine (1355008X), 2019, Vol 64, Issue 3, p622
- ISSN
1355-008X
- Publication type
Article
- DOI
10.1007/s12020-019-01878-0