Polymorphisms of the Highly Expressed IL-6 Gene in the Papillary Thyroid Cancer Susceptibility Among Chinese.
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.
['Li|Honghui|H|', 'Dai|Hao|H|', 'Li|Huajing|H|', 'Li|Baiya|B|', 'Shao|Yuan|Y|']
D000328:Adult D000483:Alleles D044466:Asians D016022:Case-Control Studies D002681:China D005260:Female D005787:Gene Frequency D020022:Genetic Predisposition to Disease D005838:Genotype D006239:Haplotypes D006801:Humans D015850:Interleukin-6 D008297:Male D008875:Middle Aged D016017:Odds Ratio D020641:Polymorphism, Single Nucleotide D018570:Risk Assessment D012307:Risk Factors D000077273:Thyroid Cancer, Papillary
Papillary thyroid cancer (PTC) GTEx Single nucleotide polymorphism (SNP) MassARRAY technology functional
annotation interleukin-6 (IL-6).