The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.

Genetic Testing and Molecular Biomarkers
Yan ShiWuzhou Yuan

Abstract

Background: Tetralogy of Fallot (TOF) accounts for ∼10% of congenital heart disease cases. The blood vessel epicardial substance (BVES) gene has been reported to play a role in the function of adult hearts. However, whether allelic variants in BVES contribute to the risk of TOF and its possible mechanism remains unknown. Methods: The open reading frame of the BVES gene was sequenced using samples from 146 TOF patients and 100 unrelated healthy controls. qRT-PCR and western blot assays were used to confirm the expression of mutated BVES variants in the TOF samples. The online software Polyphen2 and SIFT were used to predict the deleterious effects of the observed allelic variants. The effects of these allelic variants on the transcriptional activities of genes were examined using dual-fluorescence reporter assays. Results: We genotyped four single nucleotide polymorphisms (SNPs) in the BVES gene from each of the 146 TOF patients. Among them, the minor allelic frequencies of c.385C>T (p.R129W) were 0.035% in TOF, but ∼0.025% in 100 controls and the Chinese Millionome Database. This allelic variant was predicted to be a potentially harmful alteration by the Polyphen2 and SIFT softwares. qRT-PCR and western blot analyses indicated ...Continue Reading

References

Sep 1, 1978·The American Journal of Cardiology·E G BertranouJ W Kirklin
Aug 12, 1999·Mammalian Genome : Official Journal of the International Mammalian Genome Society·D E Reese, D M Bader
Jan 12, 2001·Human Molecular Genetics·Z A EldadahH C Dietz
Nov 21, 2001·Circulation·E GoldmuntzD W Benson
Jun 27, 2002·Journal of the American College of Cardiology·Julien I E Hoffman, Samuel Kaplan
Apr 18, 2003·European Journal of Human Genetics : EJHG·Emanuela ContiBruno Dallapiccola
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Oct 31, 2003·Lancet·Hisato YagiRumiko Matsuoka
Jun 4, 2004·Development·Huansheng XuAntonio Baldini
Sep 25, 2004·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Andreas FischerManfred Gessler
Jun 14, 2005·Developmental Biology·Cary WardMargaret L Kirby
Nov 24, 2005·Nature Reviews. Genetics·Margaret BuckinghamStéphane Zaffran
Feb 3, 2006·Development·Jelena S ArnoldBernice E Morrow
Jun 27, 2006·The Journal of Thoracic and Cardiovascular Surgery·George E SarrisUNKNOWN European Congenital Heart Surgeons Association
Jun 11, 2008·Proceedings of the National Academy of Sciences of the United States of America·T K SmithD M Bader
Jun 28, 2008·Circulation Research·Magali Théveniau-RuissyRobert G Kelly
Aug 2, 2008·European Journal of Medical Genetics·Weimin ZhangZhongzhi Li
Nov 15, 2008·Circulation Research·Yuka Morikawa, Peter Cserjesi
Dec 17, 2008·International Journal of Cardiology·Luciana Gioli-PereiraJosé Eduardo Krieger
Jul 15, 2009·Nature Genetics·Steven C GreenwayChristine E Seidman
Oct 13, 2009·Trends in Cardiovascular Medicine·Valentina Di Felice, Giovanni Zummo
Jan 22, 2010·World Journal of Surgery·Joanne P Starr
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Sep 3, 2010·Clinical Genetics·Alessandro De LucaB Dallapiccola
May 12, 2011·Development·Danyal HamiMargaret L Kirby
Aug 16, 2011·Developmental Biology·Brigitte Laforest, Mona Nemer
Sep 7, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Srujana KolaHema Prasad Mundluru
Feb 23, 2012·The Journal of Clinical Investigation·Alexander FroeseThomas Brand
Sep 4, 2013·Human Mutation·Yi-Qing YangGeorges Nemer
Oct 22, 2013·Archives of Cardiovascular Diseases·Jean-Marc SchleichLucile Houyel
Sep 30, 2014·American Journal of Medical Genetics. Part a·Anwar BabanGiacomo Pongiglione
Dec 3, 2014·American Heart Journal·Elisabeth LeirgulNina Øyen
Jun 4, 2015·Pediatric Cardiology·Adolfo Aguayo-GómezOsvaldo M Mutchinick

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
electrophoresis
transfection
Assay

Software Mentioned

SIFT
Image J
Sequencher
Polyphen2
HumVar

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.