Polymorphisms within genes encoding co-stimulatory molecules modulate the susceptibility to Graves' disease and orbitopathy

2014 ◽  
Author(s):  
Jacek Daroszewski ◽  
Edyta Pawlak-Adamska ◽  
Janusz Przemyslaw ◽  
Irena Frydecka ◽  
Lidia Karabon ◽  
...  
Keyword(s):  
Graves Disease ◽  
Genes Encoding

scholarly journals Association of polymorphism in genes encoding κB inhibitors (IκB) with susceptibility to and phenotype of Graves' disease: a case-control study

2009 ◽  
Vol 2 (1) ◽  
pp. 10 ◽  
Author(s):  
Alina Kurylowicz ◽  
Piotr Miśkiewicz ◽  
Ewa Bar-Andziak ◽  
Janusz Nauman ◽  
Tomasz Bednarczuk
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Graves Disease ◽  
Genes Encoding ◽  
Control Study

scholarly journals Vitamin D and Thyroid Diseases

2015 ◽  
pp. S95-S100 ◽  
Author(s):  
K. VONDRA ◽  
L. STÁRKA ◽  
R. HAMPL
Keyword(s):  
Vitamin D ◽  
Thyroid Autoimmunity ◽  
Active Form ◽  
Thyroid Tissue ◽  
Thyroid Diseases ◽  
Target Cells ◽  
Graves Disease ◽  
Chronic Autoimmune Thyroiditis ◽  
Vitamin D Receptors ◽  
Genes Encoding

In this review we summarize recent opinions on the possible role of vitamin D in the risk of thyroid diseases development. It may be concluded from the available data that vitamin D deficiency, particularly levels below 12.5 ng/ml should be considered as an additional, but important risk factor for development of thyroid autoimmunity, both chronic autoimmune thyroiditis and Graves´ disease. A higher risk of Graves´ disease development is also associated with several polymorphisms in the gene encoding for vitamin D binding protein and for the specific receptor of active form of vitamin D – 1,25-(OH)2D3 in the respective target cells. Important for development of thyroid cancer appeared polymorphisms of genes encoding for vitamin D receptors and of genes encoding for the participating hydroxylating enzymes in thyroid tissue, leading to a diminished local 1,25-(OH)2D3 formation capacity with following alteration of antiproliferatory, antiapoptotic and prodifferentiating efficacy of the latter. Whether supplementation with high doses of vitamin D or its analogues possesses preventive or therapeutic effect is an object of intensive studies.

DNA methylation in satellite repeats disorders

2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Repetitive Dna ◽  
Dna Sequences ◽  
Satellite Repeats ◽  
Tremendous Progress ◽  
Genes Encoding ◽  
Dna Elements ◽  
Near Future

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.

Abstract #1064 Biotin Supplementation Mimicking Graves’ Disease

2018 ◽  
Vol 24 ◽  
pp. 252
Author(s):  
Matthew Gorris ◽  
Brittany Henderson
Keyword(s):  
Graves Disease ◽  
Biotin Supplementation
Sign in / Sign up

Export Citation Format

Share Document