Association between collagen type XI α1 gene polymorphisms and papillary thyroid cancer in a Korean population

Abstract

Abstract. Collagen type XI α1 (COL11A1) gene overexpression has been implicated as a candidate marker of various types of cancers. In this study, we investigated whether coding region single nucleotide polymorphisms (cSNPs) of the COL11A1 gene are associated with papillary thyroid cancer (PTC) in a Korean population. Four cSNPs [rs12731843 (Lys276Asn), rs3753841 (Pro1335Leu), rs1763347 (Gly1516Gly) and rs2229783 (Ile1602Ile)] were genotyped using direct sequencing in 98 PTC patients and 366 control subjects. Logistic regression analysis for each cSNP revealed an association between rs1763347 and PTC in a dominant model [CT/TT vs. CC, p= 0.0042, odds ratio (OR)= 0.50, 95% confidential interval (CI) 0.31-0.81]. Analysis of allelic frequency showed that the T alleles of rs1763347 and rs2229783 were significantly associated with reduced risk of PTC (p= 0.010, OR=0.61, 95% CI 0.42-0.89 in rs1763347; p=0.007, OR=0.62, 95% CI 0.44-0.88 in rs2229783). Additionally, in the analysis of haplotype, the CC haplotype consisting of rs1763347 and rs2229783 was associated with PTC in codominant (p=0.011, OR=1.56, 95% CI 1.11-2.21) and recessive models (p=0.020, OR=1.70, 95% CI 1.09-2.66). The TT haplotype was also associated with PTC in a codominant model (p=0.006, OR=0.58, 95% CI 0.39-0.88). The frequency of the CC haplotype was higher in the PTC patients (0.71) compared to the control subjects (0.61), whereas the frequency of the TT haplotype was lower in the PTC patients (0.20 and 0.30 in PTC patients and control subjects, respectively). The results suggest that the COL11A1 gene may be associated with PTC and, in particular, that the T allele of rs1763347 and rs2229783 may contribute to a reduced risk of PTC.

Tumor matrix protein collagen XIα1 in cancer

“…A genome-wide analysis examining chromosomal alterations occurring in environmental insult-initiated esophageal squamous cell carcinoma found significant amplification of colXIα1 gene compared to matched normal tissue, which may be used as an early biomarker for esophageal cancer 42 . Single nucleotide polymorphisms in the colXIα1 gene have been linked to papillary thyroid cancer, with certain alleles conferring a protective effect 43 .…”

Prediction of novel target genes and pathways involved in tall cell variant papillary thyroid carcinoma

“…Park et al revealed that the COL11A1 gene might be associated with PTC and, in particular, that the T allele of rs1763347 and rs2229783 might contribute to reducing the risk of PTC. [32] Carbonic anhydrase 4 (CA4) is a member of the carbonic anhydrases family. Davidov conducted a tissue microarray study that comprised 26 follicular thyroid carcinomas and 53 follicular adenomas from patients with indeterminate thyroid nodules.…”

Pattern of Thyroid Cancer and Its Associated Factors Among Thyroid Patients Underwent Thyroidectomy at Jimma Medical Center, Southwest Ethiopia; A Four Years Retrospective Review

“…Accordingly, about six variables (duration of the disease, marital status, family history of the disease, nodularity, surface and border of the thyroid mass) were the candidate variables in binary logistic regression (p-value < 0.25) and nally, three variables (duration of the disease (> 10 years), surface (rough) and border (irregular) of the thyroid mass) were identi ed as the predictors of thyroid malignancy with AOR 0.05(0.004-0.60, P-v = 0.016; 1.9(1.17-5.8), P-v = 0.012 and 2.5(1.13-16.16), P-v < 0.001 respectively as detailed in Table 4. [27][28][29].…”

“…PTC is the most common type and it accounts for 85-90% of all thyroid cancer cases [27][28][29][30] followed by FTC which is the second common carcinoma constituting about 5-10% of all thyroid cancers [31][32][33]. Medullary thyroid tumors accounts about 5-10% of all thyroid carcinoma and are familial in approximately 25% of cases [34].…”