Genetic Variation in the Human SORBS1 Gene is Associated With Blood Pressure Regulation and Age at Onset of Hypertension

@article{Chang2016GeneticVI,
  title={Genetic Variation in the Human SORBS1 Gene is Associated With Blood Pressure Regulation and Age at Onset of Hypertension},
  author={Tien-Jyun Chang and Wen-Chang Wang and Chao A. Hsiung and Chih-Tsueng He and Ming-Wei Lin and Wayne Huey-Herng Sheu and Yi-Cheng Chang and Thomas Quertermous and Ida Y-D Chen and Jerome Rotter and Lee‐Ming Chuang},
  journal={Medicine},
  year={2016},
  volume={95}
}
AbstractEssential hypertension is a complex disease involving multiple genetic and environmental factors. A human gene containing a sorbin homology domain and 3 SH3 domains in the C-terminal region, termed SORBS1, plays a significant role in insulin signaling. We previously found a significant association between the T228A polymorphism and insulin resistance, obesity, and type 2 diabetes. It has been hypothesized that a set of genes responsible for insulin resistance may be closely linked with… 

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References

SHOWING 1-10 OF 58 REFERENCES

Association of polymorphisms of SORBS1, GCK and WISP1 with hypertension in community-dwelling Japanese individuals

TLDR
SORBS1 and GCK are susceptibility loci for hypertension in Japanese women and that WISP1 is such a locus in men, according to a 6-year population-based longitudinal cohort study.

Molecular genetics of essential hypertension: recent results and emerging strategies

TLDR
The results point to the need for more robust phenotypes that are intermediate in the pathogenetic development of high blood pressure, and the use of single-nucleotide polymorphisms in cladistic/haplotype analyses and genome-wide searches is recommended.

Genetic analysis of the IRS. Pleiotropic effects of genes influencing insulin levels on lipoprotein and obesity measures.

TLDR
Results suggest that a common set of genes influencing insulin levels also influences other insulin resistance syndrome-related traits, although for the most part this pleiotropic effects are not attributable to the 2-hour insulin level major locus.

An autosomal genome-wide scan for loci linked to pre-diabetic phenotypes in nondiabetic Chinese subjects from the Stanford Asia-Pacific Program of Hypertension and Insulin Resistance Family Study.

TLDR
An autosomal genomic search to locate the quantitative trait locus (QTL) linked to these traits in 1,365 nondiabetic Chinese subjects from 411 nuclear families found the most significant QTL for fasting insulin located at 37 cM on chromosome 20, with a maximum empirical logarithm of odds score of 3.01.

Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk

TLDR
A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention.

Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase

TLDR
Biological evidence links endothelial NO synthase with hypertension, because it is a critical mediator of cardiovascular homeostasis and blood pressure control via vascular tone regulation, and the hypothesis that there may be a causal genetic variation at this locus is supported.

Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.

TLDR
The results suggest that the A228 allele of the T228A polymorphism of the SORBS1 gene is a protective factor for both obesity and diabetes, and imply that the SORS1 gene plays an important role in the pathogenesis of human disorders with insulin resistance.

Genetic variations related to hypertension: a review

TLDR
This review attempts to summarize present known genetic variations that may be implicated in the pathogenesis of hypertension and to discuss various research strategies used to identify them.

Genetic and environmental architecture of the features of the insulin-resistance syndrome.

TLDR
In conclusion, IRS appears to be influenced by different sets of genetic and environmental mechanisms, and the set of genetic influences in common to all the components may initiate the abnormalities underlying IRS.

Genome-Wide Association Studies for Atherosclerotic Vascular Disease and Its Risk Factors

TLDR
Compared to candidate gene studies in which genes are selected on the basis of known or suspected disease mechanisms, GWA studies permit a relatively comprehensive scan of the genome in an agnostic fashion, and thus have the potential to identify novel disease susceptibility or quantitative trait loci.
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