Dataset Information

A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population.

ABSTRACT: PURPOSE:Integrins play crucial roles in the pathogenesis of papillary thyroid carcinoma (PTC). The aim of this study was to investigate whether two single nucleotide polymorphisms (SNPs) (rs2141698, -1687A/G; rs11895564, Ala380Thr) of the integrin alpha 6 (ITGA6) gene are associated with the development and clinicopathologic characteristics of PTC such as the size (<1 cm and ?1 cm), number (unifocality and multifocality), location (one lobe and both lobes), extrathyroid invasion, and cervical lymph node metastasis. METHODS:We enrolled 104 PTC patients and 318 control subjects. Genotypes of each SNP were determined by direct sequencing. SNPStats, SNPAnalyzer, and Helixtree programs were used to evaluate odds ratios (ORs), 95% confidence intervals (CIs), and P-values. Multiple logistic regression models were performed to analyze genetic data. RESULTS:A missense SNP rs11895564 was associated with the development of PTC. The A allele frequency of rs11895564 was higher in PTC patients than in controls (13.5% vs. 7.1%; P = 0.005; OR, 2.04; 95% CI, 1.24 to 3.37). In the clinicopathologic characteristics, the A allele frequency of rs11895564 showed difference in the size (19.6% in <1 cm vs. 6.9% in ?1 cm; P = 0.010; OR, 0.30; 95% CI, 0.12 to 0.75) and number (8.5% in unifocality vs. 20.8% in multifocality; P = 0.015; OR, 2.85; 95% CI, 1.23 to 6.59) of PTC. CONCLUSION:These results suggest that the A allele of rs11895564 (Ala380Thr) in ITGA6 may be a risk factor of PTC, and also contribute to the progression of PTC in the Korean population.

SUBMITTER: Kim SK

PROVIDER: S-EPMC3228998 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature

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A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population.

Kim Su Kang SK Kim Dong Kwan DK Oh In-Hwan IH Song Jeong Yoon JY Kwon Kee Hwan KH Choe Bong-Keun BK Kim Yong Ho YH

Journal of the Korean Surgical Society 20111101 5

<h4>Purpose</h4>Integrins play crucial roles in the pathogenesis of papillary thyroid carcinoma (PTC). The aim of this study was to investigate whether two single nucleotide polymorphisms (SNPs) (rs2141698, -1687A/G; rs11895564, Ala380Thr) of the integrin alpha 6 (ITGA6) gene are associated with the development and clinicopathologic characteristics of PTC such as the size (<1 cm and ≥1 cm), number (unifocality and multifocality), location (one lobe and both lobes), extrathyroid invasion, and cer ...[more]

PMID: 22148122

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Project description:Background Despite extensive research, the papillary thyroid carcinoma (PTC) ecosystem is poorly characterized and, in particular, locoregional progression. Available evidence supports that single-cell transcriptome sequencing (Sc-RNA seq) can dissect tumor ecosystems. Methods Tissue samples from one PTC patient, including matched primary tumor (Ca), lymph node (LN) metastasis, and paracancerous tissue (PCa), were subjected to Sc-RNA seq with 10×Genomics. Dual-label immunofluorescence and immunohistochemistry were used to confirm the existence of cell subtypes in a separate cohort. Results 11,805 cell transcriptomes were profiled, cell landscapes of PTC were composed of malignant follicular epithelial cells (MFECs), CD8+ and CD4+ T cells, B cells, vascular endothelial cells, fibroblasts and cancer-associated fibroblasts (CAFs). Between Ca and LN ecosystems, the proportions of MFEC and interstitial cells were similar, less than 1/25(229/6,694, 361/3,895), while the proportion of normal follicular epithelial cells (NFECs) and interstitial cells was > 2 in PCa (455/171). NFECs in PCa formed a separate cluster, while MFECs in Ca and LN exhibited a profound transcriptional overlap, and the interstitial cells among these samples had an overall concordance in their identity and representation, albeit with some distinctions in terms of the cell percentage per subset. A fraction of the B cell subpopulation in Ca expressed inhibitory receptors, while their respective ligand genes were clearly transcribed in T cell and malignant epithelial cell clusters, while some CD8+ T cells in both Ca and LN produced high levels of inhibitory receptors whose respective ligands were overexpressed in some CD4+ T cells. Three CAF subtypes in Ca and LN were identified, which may be due to mutual transitions. Conclusions Our data provide new insights into the PTC ecosystem and highlight the differences in ecosystems in PTC progression, which updates our understanding of PTC biology and will improve individualized patient treatment.

Dataset Information

A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population.

Publications

A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population.

Similar Datasets

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