scholarly journals Thr92Ala Polymorphism of Human Type 2 Deiodinase Gene (hD2) Affects the Development of Graves' Disease, Treatment Efficiency, and Rate of Remission

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Babenko Alina ◽  
Popkova Daria ◽  
Freylihman Olga ◽  
Solncev Vladislav ◽  
Kostareva Anna ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Graves Disease ◽  
Disease Development ◽  
Nucleotide Polymorphisms ◽  
Treatment Efficiency ◽  
Disease Treatment ◽  
Single Nucleotide

Clinical symptoms vary in thyrotoxicosis, and severity of these depends on many factors. Over the last years, impact of genetic factors upon the development and clinical significance of thyrotoxic symptoms became evident. It is known that a production of T3 in various tissues is limited by deiodinase 2 (D2). Recent studies revealed that certain single nucleotide polymorphisms (including threonine (Thr) to alanine (Ala) replacement in D2 gene codon 92, D2 Thr92Ala) affect T3 levels in tissues and in serum. Individuals with Ala92Ala genotype have lower D2 activity in tissues, compared with that in individuals with other genotypes. In our study, we have assessed an association of D2 Thr92Ala polymorphism with (1) frequency of disease development, (2) severity of clinical symptoms of thyrotoxicosis, and (3) rate of remissions, in Graves' disease patients.

scholarly journals AHSG Tag Single Nucleotide Polymorphisms Associate With Type 2 Diabetes and Dyslipidemia: Studies of Metabolic Traits in 7,683 White Danish Subjects

Diabetes ◽  
2008 ◽  
Vol 57 (5) ◽  
pp. 1427-1432 ◽  
Author(s):  
G. Andersen ◽  
K. S. Burgdorf ◽  
T. Sparso ◽  
K. Borch-Johnsen ◽  
T. Jorgensen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Metabolic Traits

scholarly journals Molecular Screening and Association Analyses of the Interleukin 6 Receptor Gene Variants with Type 2 Diabetes, Diabetic Nephropathy, and Insulin Sensitivity

2005 ◽  
Vol 90 (2) ◽  
pp. 1123-1129 ◽  
Author(s):  
Hua Wang ◽  
Zhengxian Zhang ◽  
Winston Chu ◽  
Terri Hale ◽  
Judith J. Cooper ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Diabetic Nephropathy ◽  
Insulin Sensitivity ◽  
Single Nucleotide Polymorphisms ◽  
Untranslated Region ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Northern European ◽  
A Minor

IL-6 levels and polymorphisms have been implicated in type 2 diabetes mellitus (T2DM) and insulin resistance. The IL-6 receptor (IL-6R) comprises two subunits, IL-6R and gp130, of which IL-6R confers specificity to IL-6 action and is located in a region of replicated linkage to T2DM on chromosome 1q21. We screened this gene for variation in Northern European Caucasian and African-American ethnic groups. We identified 11 variants with a minor allele frequency over 5%, including two amino acid changes (D358A and V385I) and four variants in the 3′ untranslated region. No variant was associated with obesity or measures of insulin sensitivity, but two single nucleotide polymorphisms in the 3′ untranslated region showed a trend to an association with T2DM in all Caucasians, and three single nucleotide polymorphisms, including D358A, showed a trend (P < 0.06) to an association with T2DM among the subset of Northern European Caucasians. Variant V385I was unique to African-Americans and was significantly associated with diabetes and diabetic nephropathy (P < 0.05). Among individuals heterozygous for the four variants in the transcribed sequence, one allele was significantly overrepresented, thus suggesting the existence of a regulatory variant controlling mRNA stability or expression. IL-6R is not likely to explain the linkage to diabetes in this region, but our work supports a minor role of variants in T2DM risk and suggests that sequence variants may alter IL-6R mRNA levels and possibly levels of soluble IL-6R.

scholarly journals Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Weihua Sun ◽  
Xiaomei Zhang ◽  
Jing Wu ◽  
Wendi Zhao ◽  
Shuangxia Zhao ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Thyroid Stimulating Hormone ◽  
Taqman Probe ◽  
Graves Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Han Population ◽  
Positive Correlations

This study was designed to explore the association between Graves disease (GD) and thyroid-stimulating hormone receptor (TSHR) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) single nucleotide polymorphisms (SNPs). We studied a total of 1217 subjects from a Han population in northern Anhui province in China. Six SNPs within TSHR (rs179247, rs12101261, rs2284722, rs4903964, rs2300525, and rs17111394) and four SNPs within CTLA-4 (rs10197319, rs231726, rs231804, and rs1024161) were genotyped via a Taqman probe technique using a Fluidigm EP1 platform. The TSHR alleles rs179247-G, rs12101261-C, and rs4903964-G were negatively correlated with GD, whereas the rs2284722-A and rs17111394-C alleles were positively correlated with GD. Analyzing TSHR SNPs at rs179247, rs2284722, rs12101261, and rs4903964 yielded 8 different haplotypes. There were positive correlations between GD risk and the haplotypes AGTA and AATA (OR=1.27, 95%CI=1.07‐1.50, P=0.005; OR=1.45, 95%CI=1.21‐1.75, P<0.001, respectively). There were negative correlations between GD risk and the haplotype GGCG (OR=0.56, 95%CI=0.46‐0.67, P<0.001). With respect to haplotypes based on SNPs at the TSHR rs2300525 and rs17111394 loci, the CC haplotype was positively correlated with GD risk (OR=1.32, 95%CI=1.08‐1.60, P=0.006). Analyzing CTLA-4 SNPs at rs231804, rs1024161, and rs231726 yielded four haplotypes, of which AAA was positively correlated with GD risk (OR=1.21, 95%CI=1.02‐1.43, P=0.029). Polymorphisms at rs179247, rs12101261, rs2284722, rs4903964, and rs17111394 were associated with GD susceptibility. Haplotypes of both TSHR and CTLA-4 were additionally related to GD risk.

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