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Association between collagen type XI ?1 gene polymorphisms and papillary thyroid cancer in a Korean population.

ABSTRACT: Collagen type XI ?1 (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.

SUBMITTER: Park HJ

PROVIDER: S-EPMC3440783 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature

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

Park Hae Jeong HJ Choe Bong-Keun BK Kim Su Kang SK Park Hyun-Kyung HK Kim Jong Woo JW Chung Joo-Ho JH Hong Il Ki IK Chung Dae Han DH Kwon Kee Hwan KH

Experimental and therapeutic medicine 20110714 6

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 subjec ...[more]

PMID: 22977629

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Project description:OBJECTIVES:Papillary thyroid cancer (PTC) is the most common subtype of thyroid cancer, which accounts for 80-90% of all thyroid cancer cases. Though the pathological mechanism hasn't been fully understood, it is reported that both environmental and genetic factor may contribute to the PTC susceptibility. MicroRNAs (miRNAs) are small non-coding RNA molecules which function as the suppressors to participate in a variety of biological processes. Accumulating evidence suggests that polymorphisms of miRNAs were associated with the tumorigenesis of various cancers, including PTC. In this article, we focus on the association between four common microRNA polymorphisms (miR-146a, miR-608, miR-933, and miR-149) and PTC risk in a Han Chinese population. METHODS:In this case-control study, we recruited 1,398 participants in total, including 369 PTC patients, 278 patients with thyroid benign nodules (BN) and 751 normal controls. The miRNAs polymorphisms were genotyped and analyzed by using MALDI-TOF mass spectrometry. The odd ratios and their 95% confidence interval (95% CI) were calculated to evaluate the association between miRNAs polymorphisms and PTC risk. Furthermore, a meta-analysis based on previous studies was conducted to comprehensively assess the diagnostic performance of miR-146a in the PTC diagnosis. RESULTS:The miR-146a polymorphisms were shown to be significantly correlated with elevated risk of PTC under the heterozygous, homozygous, dominant and allelic models by comparing the genotype distribution between PTC cases and healthy controls, as well as between PTC cases and BN cases. However, the result of meta-analysis showed no significant association between miR-146a polymorphisms and PTC risk. CONCLUSIONS:Our study indicated that the miR-146a polymorphism was significantly associated with PTC risk. In contrast, meta-analysis revealed no evidence of association between miR-146a variants and PTC risk. Further studies are required to elucidate the role of miR-146a in the etiology of PTC.

Project description:Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (?2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, ?2=8.258, p=0.016) and rs12427141 (Allele, ?2=3.992, p=0.046; Genotype, ?2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur between nodular goiter and PTC.

Dataset Information

Association between collagen type XI ?1 gene polymorphisms and papillary thyroid cancer in a Korean population.

Publications

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

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