02 December 2003
Missense mutation of exon 3 in the type A human natriuretic peptide receptor gene is associated with myocardial infarction
Tomohiro Nakayama, Masayoshi Soma, Satoshi Saito, Junko Honye, Mikano Sato, Noriko Aoi, Kotoko Kosuge, Akira Haketa, Katsuo Kanmatsuse, Shinichiro KokubunMed Sci Monit 2003; 9(12): CR505-510 :: ID: 13422
Abstract
Background:Myocardial infarction (MI) is a complex multifactorial and polygenic disorder that is thought to result from interaction between genetic make-up and various environmental factors. We previously identified a missense mutation, methionine (ATG) to isoleucine (ATC) at nucleotide 1023 (M341I), in exon 3 of the human natriuretic peptide receptor A type (hNPRA) gene. This mutation is associated with increased risk for essential hypertension (EH). The purpose of this study was to investigate association between MI and the M341I mutation in the hNPRA gene.Material/Methods:The study population included 305 healthy control subjects and 230 patients with MI, all of whom were below the age of 70 years. To assess the identified mutation in the target exon using Taq I restriction fragment length polymorphism (RFLP), specific primers were utilized. Based on the results of the PCR-RFLP, we developed a convenient and automatic method for genotyping by allelic discrimination using TaqMan™ PCR chemistry.Results:Multiple logistic linear regression analysis showed significant difference in genotype distribution between the control and MI groups. Overall distribution of alleles also differed significantly between the MI and control groups (p=0.028). The C allele was found more frequently in the MI group than in the control group.Conclusions:We conclude that the M341I missense mutation is associated with risk for MI and may be a genetic marker of MI in Japanese people.
Keywords: Alleles, Base Sequence, Case-Control Studies, DNA Primers - genetics, Exons, Gene Frequency, Genetic Markers, Guanylate Cyclase - genetics, Japan, Mutation, Missense, Myocardial Infarction - genetics, Polymorphism, Restriction Fragment Length, Receptors, Atrial Natriuretic Factor - genetics, Risk Factors
Editorial
01 May 2024 : Editorial
Editorial: First Regulatory Approval for Adoptive Cell Therapy with Autologous Tumor-Infiltrating Lymphocytes (TILs) – Lifileucel (Amtagvi)DOI: 10.12659/MSM.944927
Med Sci Monit 2024; 30:e944927
In Press
12 Mar 2024 : Clinical Research
Tissue Inhibitors of Metalloproteinase 1 (TIMP-1) and 3 (TIMP-3) as New Markers of Acute Kidney Injury Afte...Med Sci Monit In Press; DOI: 10.12659/MSM.943500
12 Mar 2024 : Review article
Optimizing Behçet Uveitis Management: A Review of Personalized Immunosuppressive StrategiesMed Sci Monit In Press; DOI: 10.12659/MSM.943240
12 Mar 2024 : Clinical Research
Metabolomic Alterations in Methotrexate Treatment of Moderate-to-Severe PsoriasisMed Sci Monit In Press; DOI: 10.12659/MSM.943360
14 Mar 2024 : Clinical Research
Renal Dysfunction Increases Risk of Adverse Cardiovascular Events in 5-Year Follow-Up Study of Intermediate...Med Sci Monit In Press; DOI: 10.12659/MSM.943956
Most Viewed Current Articles
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952