Type 2 deiodinase Thr92Ala polymorphism is associated with disrupted placental activity but not with dysglycemia or adverse gestational outcomes: a genetic association study

Dora, José Miguel Silva; Wajner, Simone Magagnin; Costa, Juliano Dalla; Ribeiro, Rafaela Vanin Pinto; Leiria, Leonardo Barbosa; Lopes, Mariah Graziani de Souza Mello; Silva, Aline Vitali da; Crispim, Daisy; Maia, Ana Luiza

doi:10.1016/j.fertnstert.2013.11.018

Cited by 11 publications

(14 citation statements)

References 29 publications

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“…On this field, comparing the Thr92Thr homozygous and Thr92Ala heterozygous genotypes, the D2 activity has been found to decline among Ala92Ala homozygous [22]. In fact, the D2 Ala92Ala genotype is related with a reduction in the placental activity of D2, which could worsen gestational complications [7]. Studying pregnant women with or without thyroid disease, we identified the Thr92 (T) allele as a risk factor to thyroid disease in pregnant women.…”

Section: Discussionmentioning

confidence: 96%

“…For instance, DIO2 and TSH have been implicated in the thyroid disease development. Polymorphisms in DIO2 could interfere in the expression level or the activity of this enzyme, potentially altering the metabolism of thyroid hormones [7,21]. On this field, comparing the Thr92Thr homozygous and Thr92Ala heterozygous genotypes, the D2 activity has been found to decline among Ala92Ala homozygous [22].…”

Section: Discussionmentioning

confidence: 99%

“…In 2017, Wouters et al proposed that the presence of the Thr92Ala (rs225014 CT) polymorphism of DIO2 influences enzymatic function and its presence is thought to predict a favorable response in a combination therapy of levothyroxine (LT4) and T3 [6]. Furthermore, the Ala92Ala genotype was reported to be related with a reduction in the placental activity of D2, which could worsen gestational complications [7].…”

Section: Introductionmentioning

confidence: 99%

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TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women with Thyroid Diseases

Cortes

Amaya-Chávez

Fabila

et al. 2019

SN Compr. Clin. Med.

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Thyroid diseases are pathologies that frequently affect pregnant women. The objective was to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in pregnant women. It was a comparative, prospective clinical, and cross-sectional study. Ninety-two pregnant patients, of which 38 were normothyroid and 54 had thyroid disease, were included. The expression of the TSHβX1 splice variant was quantified by realtime PCR and the D2 Thr92Ala (rs225014 CT) polymorphism was genotyped using TaqMan probes. The TSHβX1 splice variant was detected in both groups without significant differences in the relative expression. The T allele was associated with the thyroid dysfunction (OR = 2.117, p = 0.0339). We confirmed the presence of the predicted TSHβX1, and our results suggest that 92Thr (rs225017T) allele is a risk factor to thyroid dysfunction in pregnant women.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women with Thyroid Diseases

Cortes

Amaya-Chávez

Fabila

et al. 2019

SN Compr. Clin. Med.

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“…A small study (N ¼ 294) has also revealed that the Thr92Ala genotype is associated with reduced placental D2 activity (0.35 AE 0.15 vs. 1.96 AE 1.02 fmol/mg/min), but it was not associated with dysglycemia, increased insulin resistance or worse gestational outcomes [35]. The lack of disease association here is, however, likely to be because of lack of power and may be more apparent in individuals with other predisposing factors as seen with osteoarthritis.…”

Section: Effect Of Genetic Variation In the Deiodinases On Phenotypicmentioning

confidence: 99%

Genetic abnormalities in thyroid hormone deiodinases

Taylor¹,

Peeters

Dayan³

2015

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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The clinical importance of genetic variation in the deiodinases has yet to be fully elucidated and their impact is likely to vary between individuals and body systems dependent on multiple factors within tissues and coexistent diseases and environmental factors. Exploration of whether there are rare functional variants in the deiodinases is now possible in population studies, which may yield greater insight in the near future. Studies of the impact of genetic variation in the deiodinases in individuals with iodine deficiency, subclinical thyroid disease, or those on levothyroxine are urgently needed.

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“…The Dio2 Thr92Ala polymorphism has been reported to be associated with many disorders, such as osteoarthritis [ 3 , 4 ], hypertension [ 5 ], Graves' disease [ 6 ], Kashin-Beck disease [ 7 ], bipolar disorder [ 8 ], depression [ 9 ], and cognitive impairment [ 10 , 11 ]. In addition, many studies have shown that the Thr92Ala polymorphism is related to type 2 diabetes mellitus (T2DM), insulin resistance, and body mass index (BMI) [ 2 , 12 – 18 ]. However, the relationship between the Thr92Ala polymorphism and glycemic control in T2DM patients is unclear.…”

Section: Introductionmentioning

confidence: 99%

TheType 2 Deiodinase Thr92Ala PolymorphismIs Associated with Worse Glycemic Control in Patients with Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis

Zhang

Sun

Han

et al. 2016

Journal of Diabetes Research

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Objective. Type 2 deiodinase (Dio2) is an enzyme responsible for the conversion of T4 to T3. The Thr92Ala polymorphism has been shown related to an increased risk for developing type 2 diabetes mellitus (T2DM). The aim of this study is to assess the association between this polymorphism and glycemic control in T2DM patients as marked by the HbA1C levels. Design and Methods. The terms “rs225014,” “thr92ala,” “T92A,” or “dio2 a/g” were used to search for eligible studies in the PubMed, Embase, and Cochrane databases and Google Scholar. A systematic review and meta-analysis of studies including both polymorphism testing and glycated hemoglobin (HbA1C) assays were performed. Results. Four studies were selected, totaling 2190 subjects. The pooled mean difference of the studies was 0.48% (95% CI, 0.18–0.77%), indicating that type 2 diabetics homozygous for the Dio2 Thr92Ala polymorphism had higher HbA1C levels. Conclusions. Homozygosity for the Dio2 Thr92Ala polymorphism is associated with higher HbA1C levels in T2DM patients. To confirm this conclusion, more studies of larger populations are needed.

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Type 2 deiodinase Thr92Ala polymorphism is associated with disrupted placental activity but not with dysglycemia or adverse gestational outcomes: a genetic association study

Cited by 11 publications

References 29 publications

TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women with Thyroid Diseases

TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women with Thyroid Diseases

Genetic abnormalities in thyroid hormone deiodinases

TheType 2 Deiodinase Thr92Ala PolymorphismIs Associated with Worse Glycemic Control in Patients with Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis

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