scholarly journals Association of Serum Amylase Activity and the Copy Number Variation of AMY1/2A/2B with Metabolic Syndrome in Chinese Adults

2021 ◽  
Vol Volume 14 ◽  
pp. 4705-4714
Author(s):  
Fangjie Zhan ◽  
Jin Chen ◽  
Huihui Yan ◽  
Shuiliang Wang ◽  
Meng Zhao ◽  
...  
2008 ◽  
Vol 31 (4) ◽  
pp. 15
Author(s):  
M Lanktree ◽  
R A Hegele

Metabolic syndrome (MetS) is defined by the presence of abdominal obesity, hypertension, dysglycemia, and dyslipidemia. Many mutations have been discovered that cause rare monogenic components of metabolic syndrome, and association studies have linked common variants with increased risk of MetS and its components. Despite successes in identifying genetic contributors to metabolic syndrome, unexplained heritability exists and copy number variation (CNV) could be responsible for a portion of this variation. As observed with single nucleotide changes, it is likely that both rare and common CNVs will contribute to MetS disease susceptibility. Recent efforts to map CNVs in control populations have given insight into their size, frequency and distribution. However, despite being observed in controls, the reported CNVs could still modulate susceptibility for late-onset complex traitsor produce subtle metabolic phenotypes. Here we examine the overlap between CNVs found in control datasets and genes with functional hypotheses or evidence of previous association to MetS. Secondly, we present the results and methodology of a search for a rare CNV in a high-penetrance Mendelian disorder, namely familial partial lipodystrophy. As methods to identify CNVs increase in precision and accuracy, the prospect of identifying their role in both rare Mendelian and common complex diseases is exciting.


2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�

2016 ◽  
Vol 117 (3) ◽  
pp. 383-388 ◽  
Author(s):  
Ellen Geets ◽  
Doreen Zegers ◽  
Sigri Beckers ◽  
An Verrijken ◽  
Guy Massa ◽  
...  

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