Search for Genetic Variant in the Apelin Gene by Resequencing and Association Study in European Subjects

Genetic Testing and Molecular Biomarkers
Federica SentinelliMarco G Baroni

Abstract

Apelin is a peptide produced and secreted by white adipose tissue. It is synthesized as preproapelin, a protein containing 77 aminoacids which is then cleaved to shorter active fragments. As an adipokine, apelin plays a role in the regulation of many biological functions, including body energy homeostasis and glucose metabolism, water balance, and immunity. We have recently demonstrated that subjects with type 2 diabetes (T2D) have significantly higher serum apelin levels compared with controls, and that these levels associate with fasting glucose, basal disposition index, age, and diagnosis of T2D. The first aim of this study was to search for sequence variants in the apelin gene (APLN), located on chromosome Xq25-q26.1 that may associate with serum levels of apelin. The second aim was to analyze the possible association between diabetes and diabetes-related traits and APLN variants. We designed a two-step genetic association study. Step one consisted of an initial screen of 100 individuals selected from the extremes of the apelin distribution levels wherein we sequenced the APLN gene to identify common variants. In step two, the rs181301686 with a minor allele frequency >0.2 was genotyped in 917 individuals to explore its ass...Continue Reading

References

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Citations

Dec 21, 2018·Expert Opinion on Therapeutic Targets·Isabelle Castan-LaurellPhilippe Valet
Dec 7, 2017·Current Medicinal Chemistry·Marta Olivera-Santa CatalinaJose J Lopez

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

SPSS
SHEsis

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