scholarly journals A Step Forward in Understanding the Relevance of Genetic Variation in Type 2 Deiodinase

2017 ◽  
Vol 102 (5) ◽  
pp. 1775-1778 ◽  
Author(s):  
Marco Medici ◽  
Layal Chaker ◽  
Robin P. Peeters

This article involves the study by Castagna et al. published in this issue of the Journal of Clinical Endocrinology & Metabolism on the association and functional analyses of genetic variation in DIO2.

1997 ◽  
Vol 13 (5) ◽  
pp. 401-404 ◽  
Author(s):  
CATHERINE A. BRENNAN ◽  
JULIE YAMAGUCHI ◽  
ANA S. VALLARI ◽  
ROBERT K. HICKMAN ◽  
SUSHIL G. DEVARE

Diabetes ◽  
2005 ◽  
Vol 54 (7) ◽  
pp. 2245-2250 ◽  
Author(s):  
C. M. Damcott ◽  
S. H. Ott ◽  
T. I. Pollin ◽  
L. J. Reinhart ◽  
J. Wang ◽  
...  

Cells ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2611
Author(s):  
Jayron J. Habibe ◽  
Maria P. Clemente-Olivo ◽  
Carlie J. de Vries

Susceptibility to complex pathological conditions such as obesity, type 2 diabetes and cardiovascular disease is highly variable among individuals and arises from specific changes in gene expression in combination with external factors. The regulation of gene expression is determined by genetic variation (SNPs) and epigenetic marks that are influenced by environmental factors. Aging is a major risk factor for many multifactorial diseases and is increasingly associated with changes in DNA methylation, leading to differences in gene expression. Four and a half LIM domains 2 (FHL2) is a key regulator of intracellular signal transduction pathways and the FHL2 gene is consistently found as one of the top hyper-methylated genes upon aging. Remarkably, FHL2 expression increases with methylation. This was demonstrated in relevant metabolic tissues: white adipose tissue, pancreatic β-cells, and skeletal muscle. In this review, we provide an overview of the current knowledge on regulation of FHL2 by genetic variation and epigenetic DNA modification, and the potential consequences for age-related complex multifactorial diseases.


2021 ◽  
Vol 65 (02) ◽  
pp. 221-231
Author(s):  
Pandeng Zhao ◽  
Linyang Yu ◽  
Yanling Liu ◽  
Leyi Zhang ◽  
Pengshuai Liang ◽  
...  

2008 ◽  
Vol 95 (1-2) ◽  
pp. 96-100 ◽  
Author(s):  
Eun Seok Kang ◽  
Se Eun Park ◽  
Seung Jin Han ◽  
So Hun Kim ◽  
Chung Mo Nam ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kenneth K. Kidd ◽  
Andrew J. Pakstis ◽  
Michael P. Donnelly ◽  
Ozlem Bulbul ◽  
Lotfi Cherni ◽  
...  

Abstract Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.


2019 ◽  
Vol 17 (1) ◽  
pp. 147916411988847 ◽  
Author(s):  
Eu Jeong Ku ◽  
Gun Woo Won ◽  
Yong Hee Lee ◽  
Dong-Hwa Lee ◽  
Hyun Jeong Jeon ◽  
...  

Aim: The aim of this study was to investigate the association between the transcription factor 7-like 2 gene ( TCF7L2) rs7903146 polymorphism and peripheral arterial disease in type 2 diabetes. Methods: In total, 1818 Korean type 2 diabetes patients were enrolled from January 2013 to December 2017. Subjects were categorized into two groups according to their duration of type 2 diabetes: long (⩾10 years, n = 771) and short (<10 years, n = 1047) durations. A multivariate logistic regression model was used for assuming an additive effect on peripheral arterial disease for the presence of a variant allele in TCF7L2 rs7903146. Results: The frequency of the minor T-allele was 7.6% ( n = 139), and this allele was significantly associated with a 2.6-fold higher risk of peripheral arterial disease (odds ratio = 2.595, 95% confidence interval = 1.177–5.722, p = 0.018) in patients exhibiting a long duration of type 2 diabetes (⩾10 years). This result was significant after adjusting for age, sex, body mass index, familial history of diabetes, smoking, duration of diabetes and laboratory measurements, which included glycated haemoglobin, fasting plasma glucose and lipid profiles. In patients with diabetes < 10 years, there was no significant association between TCF7L2 rs7903146 and peripheral arterial disease (odds ratio = 1.233, 95% confidence interval = 0.492–3.093, p = 0.655). Conclusion: Our results provide evidence that genetic variation in TCF7L2 rs7903146 could increase risk for peripheral arterial disease in patients exhibiting long-standing type 2 diabetes.


2009 ◽  
Vol 145 (1) ◽  
pp. 151-156 ◽  
Author(s):  
Fang Wang ◽  
Xin Guo ◽  
Xinna Ge ◽  
Zhongtian Wang ◽  
Yanhong Chen ◽  
...  

2020 ◽  
Vol 34 (S1) ◽  
pp. 1-1
Author(s):  
Donald Moshen Tanyanyiwa ◽  
Philani Ernest Buthelezi ◽  
Collet Dandara ◽  
Sandeep Amrat Bhana

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