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 ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Copy Number Variation ◽  
Copy Number ◽  
Serum Amylase ◽  
Amylase Activity ◽  
Chinese Adults ◽  
Number Variation ◽  
Serum Amylase Activity

COPY NUMBER VARIATION IN METABOLIC SYNDROME

2008 ◽  
Vol 31 (4) ◽  
pp. 15
Author(s):  
M Lanktree ◽  
R A Hegele
Keyword(s):  
Metabolic Syndrome ◽  
Copy Number Variation ◽  
Copy Number ◽  
Late Onset ◽  
Association Studies ◽  
Partial Lipodystrophy ◽  
Increased Risk ◽  
Number Variation ◽  
Familial Partial Lipodystrophy ◽  
Obesity Hypertension

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.

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

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