Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23–q32, for susceptibility to Graves’ disease: a TDT study

Chistiakov, Dimitry A.; Savost’anov, Kirill V.; Туракулов, Р. И.

doi:10.1016/j.ymgme.2004.07.011

Cited by 30 publications

(22 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These Graves' patients showed a significantly higher frequency of the TSHRGlu727 allele than did healthy subjects (33,34). A recent transmission disequilibrium test (TDT) study in Russian families showed that the D2-Thr92Ala (see below) and TSHR-Asp727Glu polymorphisms are in weak linkage disequilibrium (35), and that the D2-Ala92/TSHR-Glu727 haplotype allele was preferentially transmitted from parents to affected siblings with Graves' disease (35). However, TDT is not the best design to analyze linkage disequilibrium.…”

Section: Polymorphisms In the Tsh Receptormentioning

confidence: 91%

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

2006

View full text Add to dashboard Cite

Serum thyroid parameters show substantial inter-individual variability, in which genetic variation is a major factor. Findings in patients with subclinical hyper-and hypothyroidism illustrate that even minor alterations in serum thyroid function tests can have important consequences for a variety of thyroid hormone-related clinical endpoints, such as atherosclerosis, bone mineral density, obesity, and heart rate. In the last few years, several studies described polymorphisms in thyroid hormone pathway genes that alter serum thyroid function tests. In this review, we discuss the genetic variation in the TSH receptor and iodothyronine deiodinases. We discuss the possible consequences of these studies for the individual patient and also the new insights in thyroid hormone action that can be obtained from these data.European Journal of Endocrinology 155 655-662

show abstract

Section: Polymorphisms In the Tsh Receptormentioning

confidence: 91%

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

2006

View full text Add to dashboard Cite

show abstract

“…In addition, an impact of D2 variants on T 4 dose could not be replicated in other cohorts on T 4 replacement for primary hypothyroidism (28,35). Interestingly, the D2-92Ala allele was associated with an increased risk for Graves' disease in a Russian population (36). On the other hand, in a Russian population the 92Ala variant was suggested to be protective regarding risk for Graves' disease development, severity of disease, and rate of remissions in Graves' patients (37).…”

Section: Organ and Tissue-specific Effects Of Deiodinase Polymorphismsmentioning

confidence: 99%

GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans

Verloop

Dekkers

Peeters

et al. 2014

European Journal of Endocrinology

View full text Add to dashboard Cite

Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation.

show abstract

“…The D2 activity found to decline among Ala92Ala mutant homozygous when compared to Thr/Thr wild homozygous and Thr/Ala heterozygous genotypes [8]. The DIO2 Thr92Ala polymorphism has also been linked to increased risk for osteoarthritis [9], hypertension [10], Graves' disease [11], intelligence quotient alterations associated with iodine deficiency [12], psychological well-being and response to T 3 or T 4 treatment [13], and decreased bone mass and higher bone turnover [14]. Intriguingly, most of these associations are independent of serum thyroid hormone levels, which highlight the importance of local regulation of thyroid hormones in peripheral tissues.…”

Section: Introductionmentioning

confidence: 99%

Association of Type II 5′ Monodeiodinase Thr92Ala Single Nucleotide Gene Polymorphism and Circulating Thyroid Hormones Among Type 2 Diabetes Mellitus Patients

Yalakanti

Dolia

2015

Ind J Clin Biochem

View full text Add to dashboard Cite

Diabetes mellitus and thyroid disorders are common endocrinopathies, which often occur parallel. Dyslipidemia is very common in both of these conditions. The development of hypothyroidism is well-known in type 1 diabetics, but it was not distinctly understood in type 2 diabetics. Thus we tried to examine the association between type II deiodinase (D2 or DIO2) Thr92Ala single nucleotide gene polymorphism and thyroid function among type 2 diabetes mellitus patients. A total of 130 type 2 diabetics were screened and genotyped for DIO2 Thr92Ala polymorphism. Fasting plasma glucose, Glycosylated haemoglobin, lipid and thyroid profiles, malondialdehyde (MDA) and paraoxonase were estimated according to standard procedures. A significant altered level of thyroid hormones (TH's) was found in Ala/Ala genotype when compared with Thr/Thr or Thr/Ala genotype. DIO2 and T 3 :T 4 ratio significantly decreased, whereas total T 4 and thyroid stimulating hormone levels significantly elevated among Ala/Ala genotype (131 ± 30 ng/ml; 0.12 ± 0.05; 7.17 ± 2.05 lg/dl; 4.77 ± 3.1 lIU/ml, respectively) when compared with Thr/Thr ? Thr/Ala genotypes (176 ± 33 ng/ml; 0.21 ± 0.05; 5.21 ± 1.1 lg/dl; 2.59 ± 1.61 lIU/ml respectively). Moreover, D2 levels were significantly negatively correlated with TH's levels except total T 4 among Ala/Ala genotypes. All the patients were having a poor glycemic control, and their glycemic status was positively correlating with MDA levels. On the other hand, serum paraoxonase activity decreased among Ala/Ala genotype (104 ± 21 vs. 118 ± 18 nmol/min/ml). In conclusion, DIO2 Ala92 homozygous variant found to be associated with altered levels of DIO2, Thyroid profile and paraoxonase. Hence, we recommend to do detail study of genetic factors related to thyroid function and prevent additional diabetic complications.

show abstract

Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23–q32, for susceptibility to Graves’ disease: a TDT study

Cited by 30 publications

References 42 publications

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans

Association of Type II 5′ Monodeiodinase Thr92Ala Single Nucleotide Gene Polymorphism and Circulating Thyroid Hormones Among Type 2 Diabetes Mellitus Patients

Contact Info

Product

Resources

About