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

[ Vol. 19 , Issue. 6 ]

Author(s):

Honghui Li*, Hao Dai*, Huajing Li, Baiya Li and Yuan Shao   Pages 443 - 451 ( 9 )

Abstract:


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.

Keywords:

Papillary thyroid cancer (PTC), interleukin-6 (IL-6), Single nucleotide polymorphism (SNP), functional annotation, MassARRAY technology, GTEx.

Affiliation:

Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, Department of Otolaryngology & Head Neck, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061



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