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Hou X.,Key Laboratory of Endocrine Diseases | Hou X.,Shenyang University | Mao J.,Key Laboratory of Endocrine Diseases | Li Y.,Liaoning Medical University | And 11 more authors.
BMC Medical Genetics

Background: The autoimmune thyroid diseases (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are caused by interactions between susceptibility genes and environmental triggers. Single nucleotide polymorphisms (SNPs) of Solute carrier family 22, member 4 (SLC22A4) have been shown to be associated with several autoimmune diseases, including Crohn's disease (CD) and rheumatoid arthritis (RA). The aim of this study is to investigate whether SNP rs3792876 in the SLC22A4 gene is associated with GD, HT and AITD in a Chinese Han population. Methods: In this study, we collected specimens from 553 Chinese Han individuals of 92 AITD pedigrees in 10 cities in Liaoning province, China (80 GD pedigrees, 478 members; 12 HT pedigrees, 75 members). SNP rs3792876 was genotyped using the TaqMan allelic discrimination assay. Hardy-Weinberg Equilibrium tests were performed among founders of the pedigrees using Haploview software. Family-based association tests performed using FBAT software. Results: No deviation from Hardy-Weinberg equilibrium was observed (p > 0.05). There were not significant association between the SLC22A4 gene polymorphism (rs3792876) and GD, HT and AITD was found. Conclusions: These results suggest a lack of association between the SLC22A4 gene polymorphism rs3792876 and susceptibility to GD, HT and AITD in a Chinese Han population. © 2015 Hou et al. Source

Dong W.,Shenyang University | Li J.,Shenyang University | Li J.,Key Laboratory of Endocrine Diseases | Huang Y.,Shenyang University | And 7 more authors.
Medical Science Monitor

Background: The aim of this study was to investigate the expression patterns of estrogen receptor (ER) β1 (wildtype ERβ) and ERβ2 (ERβcx) in papillary thyroid cancer (PTC) and nodular thyroid goiter (NTG), and to explore the reasons for the higher incidence of PTC in women of reproductive age. Material/Methods: ERβ1 and ERβ2 expression was examined immunohistochemically on paraffin-embedded thyroid tissues from 106 patients with PTC and 30 patients with NTG. Results: There was significant difference in the subcellular localization of ERβ1 (P<0.001), but not in the positive percentage, between PTC and NTG specimens. No significant difference was found in the positive percentage or the subcellular distribution of ERβ2 expression between PTC and NTG specimens. Both nuclear and nucleocytoplasmic ERβ1 expressions were significantly lower in PTC lesions than in NTG tissue (P<0.001 and P<0.05, respectively), while ERβ2 expression was significantly higher in the former than the latter (P<0.05). ERβ1 expression in reproductive-aged (18~45 years) female patients with PTC was lower than that in age-matched male patients (P<0.05), while ERβ2 expression had the opposite expression profile (P<0.05). There was no significant difference in ERβ1 and ERβ2 expression between reproductive-aged and advanced reproductive-aged (>45 years) female patients with PTC. Conclusions: This preliminary study indicates that the expression patterns of ERβ1 and ERβ2 differ between malignant PTC lesions and benign NTG tissue, and their expression might be involved in the female predominance of PTC during the reproductive years. The clinical and biological significance of these results await further investigation. Source

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