Related Experiment Video
Updated: Apr 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Atrial natriuretic peptide gene - a potential biomarker for long QT syndrome
Sameera Fatima Qureshi1, Altaf Ali1, Ananthapur Venkateshwari2
1Department of Genetics, University College of Science, Osmania University, Hyderabad-500007, Andhra Pradesh, India.
Abstract:
This study highlights the possible implication of NPPA (natriuretic peptide precursor A) gene in the etiology of Long QT syndrome (LQTS) by population-based as well as familial study. Three SNPs of NPPA - C-664G, C1363A and T1766C were examined by molecular analyses in LQTS, controls and first degree relatives (FDRs). This study revealed a possible association of 1364 C>A SNP 'C' allele with LQTS (p = 0.0013). All three SNPs were in tight linkage disequilibrium. The familial study highlights the association of NPPA SNP with cLQTS and implicating it as a potential biomarker in South Indian population.
Related Concept Videos
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Transducer Mechanism: Enzyme-Linked Receptors
Major types that are helpful drug targets include:
lncRNA - Long Non-coding RNAs

