A systematic review of genetic studies of thyroid disorders in Taiwan

Huang, Chun-Ying; Jap, Tjin-Shing

doi:10.1016/j.jcma.2014.09.010

Cited by 18 publications

(8 citation statements)

References 93 publications

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“…Other studies have not demonstrated a significant influence of variation in the gene for this enzyme on T4 requirement in hypothyroid patients [48], or on patient-reported outcomes on (or preference for) treatment with LT4 + T3 combination therapy [49]. Further research will be needed to confirm whether genetic variations in deiodinases, and indeed in other sites of cellular access or action of thyroid hormones (such as membrane transporters, nuclear receptors and other sites) may facilitate individualised treatment of hypothyroid patients in the future [44,[50][51][52].…”

Section: Possible Explanations For Continuing Symptoms Despite 'Adequmentioning

confidence: 99%

“…Symptoms associated with hypothyroidism are often non-specific in nature, and common within the euthyroid population, as described above, and a systematic and careful approach is needed to evaluate any association between the patient's symptoms and thyroid status [52]. Box1 and Figure 1 summarise a pragmatic approach to managing these patients, with individual steps described in more detail below.…”

Section: Managing Patients With Persistent Symptoms Despite Optimisedmentioning

confidence: 99%

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Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Razvi

Mrabeti²,

Luster

2020

Endocrine Connections

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The current standard of care for hypothyroidism is levothyroxine (LT4) monotherapy to reduce levels of thyrotropin (thyroid stimulating hormone, TSH) to within its reference range and amelioration of any symptoms. A substantial minority continue to report hypothyroid-like symptoms despite optimised TSH, however. These symptoms are not specific to thyroid dysfunction and are frequent among the euthyroid population, creating a therapeutic dilemma for the treating clinician as well as the patient. We present a concise, narrative review of the clinical research and evidence-based guidance on the management of this challenging population. The clinician may endeavour to ensure that the serum TSH is within the target range. However, the symptomatic patient may turn to alternative non-evidence-based therapies in the hope of obtaining relief. Accordingly, it is important for the clinician to check for conditions unrelated to the thyroid that could account for the ongoing symptoms such as other autoimmune conditions, anaemia or mental health disorders. Systematic and thorough investigation of the potential causes of persistent symptoms while receiving LT4 therapy will resolve the problem for most patients. There may be some patients that may benefit from additional treatment with liothyronine (LT3), although it is unclear as yet as to which patient group may benefit the most from combined LT4 + LT3 therapy. In the future, personalised treatment with LT4 + LT3 may be of benefit for some patients with persistent symptoms of hypothyroidism such as those with polymorphisms in the deiodinase enzyme 2 (DIO2). For now, this remains a subject for research.

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Section: Possible Explanations For Continuing Symptoms Despite 'Adequmentioning

confidence: 99%

Section: Managing Patients With Persistent Symptoms Despite Optimisedmentioning

confidence: 99%

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Razvi

Mrabeti²,

Luster

2020

Endocrine Connections

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“…Interestingly, mutations in any one of the transporters involved in I − metabolism can cause cancer per se (Russo et al 2001, Schubert et al 2014, Huang & Jap 2015. In some cases, a mutation may lead to dysfunctions at the plasma membrane and, indirectly, can be associated with tumor progression because of dysregulated protein expression (Dohan et al 2003, De la Vieja et al 2005.…”

Section: Downregulation Of Nis Expression In Thyroid Cancermentioning

confidence: 99%

Role of iodide metabolism in physiology and cancer

Vieja¹,

Santisteban²

2018

Endocrine-Related Cancer

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Iodide (I) metabolism is crucial for the synthesis of thyroid hormones (THs) in the thyroid and the subsequent action of these hormones in the organism. I is principally transported by the sodium iodide symporter (NIS) and by the anion exchanger PENDRIN, and recent studies have demonstrated the direct participation of new transporters including anoctamin 1 (ANO1), cystic fibrosis transmembrane conductance regulator (CFTR) and sodium multivitamin transporter (SMVT). Several of these transporters have been found expressed in various tissues, implicating them in I recycling. New research supports the exciting idea that I participates as a protective antioxidant and can be oxidized to hypoiodite, a potent oxidant involved in the host defense against microorganisms. This was possibly the original role of I in biological systems, before the appearance of TH in evolution. I per se participates in its own regulation, and new evidence indicates that it may be antineoplastic, anti-proliferative and cytotoxic in human cancer. Alterations in the expression of I transporters are associated with tumor development in a cancer-type-dependent manner and, accordingly, NIS, CFTR and ANO1 have been proposed as tumor markers. Radioactive iodide has been the mainstay adjuvant treatment for thyroid cancer for the last seven decades by virtue of its active transport by NIS. The rapid advancement of techniques that detect radioisotopes, in particular I, has made NIS a preferred target-specific theranostic agent.

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“…population (Huang & Jap 2015). It seems that these kinds of mutations can change TPO protein activity, its expression in serum, or even the serum levels of TPOAb, confirmed by a study introducing nonsynonymous substitutions in TPO (including p.Ala373Ser, p.Ser398Thr, and p.Thr725Pro) in Bangladeshi patients (Begum et al 2019).…”

Section: Tpomentioning

confidence: 88%

Graves’ disease: introducing new genetic and epigenetic contributors

Razmara

Salehi

Aslani

et al. 2021

Journal of Molecular Endocrinology

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Autoimmune thyroid disease (AITD) accounts for 90% of all thyroid diseases and affects 2-5% of the population with remarkable familial clustering. Among AITDs, Graves’ disease (GD) is a complex disease affecting thyroid function. Over the last two decades, case-control studies using cutting-edge gene sequencing techniques have detected various susceptible loci that may predispose individuals to GD. It has been presumed that all likely associated genes, variants, and polymorphisms might be responsible for 75-80% of the heritability of GD. As a result, there are implications concerning the potential contribution of environmental and epigenetic factors in the pathogenesis of GD, including its initiation, progression, and development. Numerous review studies have summarized the contribution of genetic factors in GD until now, but there are still some key questions and notions that have not been discussed concerning the interplay of genetic, epigenetic, and immunological factors. With this in mind, this review discusses some newly-identified loci and their potential roles in the pathogenicity of GD. This may lead to the identification of new, promising therapeutic targets. Here, we emphasized principles, listed all the reported disease-associated genes and polymorphisms, and also summarized the current understanding of the epigenetic basis of GD.

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A systematic review of genetic studies of thyroid disorders in Taiwan

Cited by 18 publications

References 93 publications

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Role of iodide metabolism in physiology and cancer

Graves’ disease: introducing new genetic and epigenetic contributors

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