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The Impact of the D727E Polymorphism has no Significant Role in Multi Nodular Goiter.

ABSTRACT: Interactions between individual genetic and environmental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic DNA isolation, PCR amplification was performed using a pair of primers in exon 10 of the TSHR gene that contains the p.D727E polymorphism and digested by theNlaIII (Hin1II) restriction enzyme. We found the CC and CG genotype incidence for the patient group to be 0.71 and 0.29, respectively, and for the control group to be 0.8 and 0.2, respectively. No statistically significant difference was found between the genotype and allele distribution of both groups (p = 0.417 and p = 0.449, respectively). However, the polymorphism is significantly correlated with the low serum level of the TSH (p = 0.047). These results suggest that the p.D727E polymorphism of the TSHR gene may not contribute to the pathogenesis of nontoxic MNG diseases.

SUBMITTER: Tug E

PROVIDER: S-EPMC3776659 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature

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The Impact of the D727E Polymorphism has no Significant Role in Multi Nodular Goiter.

Tug E E Sengül N N Aydin H H Yilmaz Ee E

Balkan journal of medical genetics : BJMG 20121201 2

Interactions between individual genetic and environmental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 contro ...[more]

PMID: 24052734

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Project description:Introduction and importanceThis case series describe the efficacy of hemi-thyroidectomy to relieve the compressive symptoms of cases having large multi-nodular goiter with preservation of the thyroid gland function. It's considered as an education tool for surgeons to perform safe hemi thyroidectomy to patients indicated for total removal of the gland. Compressive symptoms like mild/severe dysphagia or dyspnea associated with both benign and malignant thyroid disease. Although total thyroidectomy is currently considered the standard of care, hemi thyroidectomy is another surgical option with more benefits.Case presentationThis case series was performed in a tertiary university hospital in Riyadh, Saudi Arabia. It included 35 females and 3 males above the age of 18 (mean age 42 years). All the operations were elective hemi-thyroidectomies performed by one surgeon, during 2019. Patients were complaining of; Voice Change, Neck Swelling, Dysphagia, Chocking, SOB, and Orthopnea. 20 of them were medically free and 18 patients had multiple associated comorbidities.Clinical findings and investigationsDemographic data, baseline co-morbidities, TSH levels prior to surgery, thyroid gland size, FNA results and pre-operative symptoms were recorded. In addition, compressive symptomatology outcomes from two weeks to two years were recorded. Thirty-two of them (84%) had their symptoms resolve completely and did not need a completion surgery. Out of the 6 who had persistent symptoms, only two needed a completion surgery. Furthermore, only 34.2% required thyroid hormone replacement, 31.6% were euthyroid and 2.6% were hypothyroid preoperatively.Interventions and outcomeHemi thyroidectomy was chosen to avoid the risk of hormone replacement, and hypocalcemia. Our results revealed that compressive symptoms were effectively relieved in the majority of our patients. Only 2 patients had to undergo completion thyroidectomy due to compressive symptoms with no perioperative or postoperative complications.Relevance and impactWe would recommend hemi thyroidectomy for cases of large multi nodular goiter due to its positive implication on patient outcome particularly if the patient refuse hormonal replacement.

Project description:BackgroundThe incidence rates of thyroid tumors and nodular goiter show an upward trend worldwide. There are limited reports on the risk of perchlorate and iodine on thyroid tumors, but evidence from population studies is scarce, and their impact on thyroid function is still uncertain. Therefore, the objective of this study was to investigate the association of perchlorate and iodine with the risk of nodular goiter (NG), papillary thyroid microcarcinoma (PTMC), and papillary thyroid carcinoma (PTC) and to assess the correlation between perchlorate and iodine with thyroid function indicators.MethodsA case-control population consisting of 184 pairs of thyroid tumors and nodular goiter matched by gender and age (±2 years) was recruited in this study. Serum and urine samples were collected from each participant. Thyroid function indicators in serum were tested by automatic chemical immunofluorescence, and perchlorate and iodine levels in urine were determined by ultra-high performance liquid chromatography tandem-mass spectrometry and inductively coupled plasma-mass spectrometry, respectively. Conditional logistic regressions and multiple linear regressions were used to analyze the associations.ResultsUrinary perchlorate concentration was significantly higher in total cases, NG and PTC than in the corresponding controls (P < 0.05). Perchlorate was positively associated with PTC (OR = 1.058, 95% CI: 1.009, 1.110) in a non-linear dose-response relationship, but there was no association between perchlorate and NG or PTMC. Iodine was not associated with the risk of thyroid tumors and NG and did not correlate with the thyroid function indicators. Furthermore, perchlorate showed a positive correlation with thyroid stimulating hormone (TSH) at iodine adequate levels (P < 0.05), and a negative correlation with free triiodothyronine (FT3) and a positive correlation with thyroglobulin antibody (TgAb) at iodine more than adequate or excess levels (P < 0.05).ConclusionsPerchlorate can increase the risk of PTC in a non-linear dose-response relationship and disturb the thyroid hormone homeostasis and thyroid autoantibody levels.

Project description:Context: Papillary thyroid cancer (PTC) is the most common thyroid cancer with dramatically increasing worldwide. Accurate diagnosis is crucial to avoid unnecessary overtreatment for low-risk patients, but the currently available markers are still insufficient. tRNA-derived fragments (tRFs) are emerging as a new class of small non-coding RNAs due to their potential roles as novel biomarkers and therapeutic targets in cancer. However, their involvement in papillary thyroid carcinoma (PTC) is still unclear. Objectives: This study was performed to identify differentially expressed tRFs in PTC and investigate the role of serum tRFs to discriminate PTC from nodular goiters (NGs).Methods and Materials: tRF expression profiles were measured in pooled sera from patients with PTCs (n=6), NGs (n=6) and healthy subjects (n=6) using high-throughput sequencing (cohort1). One selected tRF candidate was validated in the same individual samples (cohort1) by qRT-PCR. The confirmed tRF was further validated in a larger second cohort including patients with PTCs (n=30), NGs (n=20) and healthy individuals (n=18).Results: Our sequencing results showed that circulating tRFs were differentially expressed in patients with PTC compared with those with NG and healthy people. After the validation in individual samples, tRF-Pro-AGG-018 was confirmed as differentially elevated in serum samples of patients with PTC. These results were further confirmed in a larger second cohort. Moreover, tRF-Pro-AGG-018 exhibited good diagnostic performance with a sensitivity of 0.7222 and a specificity of 0.8846 for PTC and it was associated with several targeted genes of PTC. Conclusions: Our study identified that the serum tRFs were differentially expressed in PTC compared with NG and healthy individuals. Notably, circulating tRF-Pro-AGG-018 was found to have a significant elevation in patients with PTC and exhibited good diagnostic performance with relatively high sensitivity and specificity for PTC. Our findings suggest tRFs might serve as novel circulating biomarkers in predicting patients with PTC, which may prevent unnecessary thyroid surgeries for low-risk and benefit from optimal

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The Impact of the D727E Polymorphism has no Significant Role in Multi Nodular Goiter.

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The Impact of the D727E Polymorphism has no Significant Role in Multi Nodular Goiter.

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