Related Experiment Video
Updated: Jun 20, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Variations of specific non-candidate genes and risk of myocardial infarction: a replication study
Werner Koch1, Petra Hoppmann, Albert Schömig
1Deutsches Herzzentrum München and 1 Medizinische Klinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany. wkoch@dhm.mhn.de
Background:
A recent survey of 11,053 single nucleotide polymorphisms from 6891 genes suggested that the risk of myocardial infarction was related to specific genes so far not linked with atherosclerotic diseases. The genes encode the cytoskeletal protein palladin (PALLD), a receptor tyrosine kinase (ROS1), a taste receptor (TAS2R50), an olfactory receptor (OR13G1), and a zinc finger protein (ZNF627).
Methods:
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (OR13G1), and rs4804611 (ZNF627) which were found to be associated with myocardial infarction in the original report. The present study sample consisted of 3657 patients with myocardial infarction (885 women and 2772 men) and 1211 control individuals (598 women and 613 men).
Results:
The frequencies of genotypes and alleles were not significantly different between the group with myocardial infarction and the control group (p ≥ 0.25). In addition, genotype distributions were not substantially different between the women in the group with myocardial infarction and the control group (p ≥ 0.30) and between the men in the two groups (p ≥ 0.27). Finally, no risk genotypes were ascertained in multiple logistic regression analyses that included conventional risk factors of atherosclerosis as covariates (p≥0.26).
Conclusions:
The results obtained in this study argue against associations of specific single nucleotide polymorphisms in the PALLD, ROS1, TAS2R50, OR13G1, and ZNF627 genes with myocardial infarction.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Principles of Pharmacogenetics: Types of Genetic Variants
Single Nucleotide Polymorphisms-SNPs
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...