title: Missense mutation of exon 3 in the type A human natriuretic peptide receptor gene is associated with myocardial infarction.
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.
  
  
  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.
authors.affiliation: 2nd Department of Internal Medicine, Nihon Medical University, Itabashi-ku, Tokyo, Japan. tnakayama@med.nihon-u.ac.jp
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Soma
authors.forename: Satoshi
authors.initials: S
authors.lastname: Saito
authors.forename: Junko
authors.initials: J
authors.lastname: Honye
authors.forename: Mikano
authors.initials: M
authors.lastname: Sato
authors.forename: Noriko
authors.initials: N
authors.lastname: Aoi
authors.forename: Kotoko
authors.initials: K
authors.lastname: Kosuge
authors.forename: Akira
authors.initials: A
authors.lastname: Haketa
authors.forename: Katsuo
authors.initials: K
authors.lastname: Kanmatsuse
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Kokubun
mesh_terms: D000368:Aged; D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009203:Myocardial Infarction / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D006162:Guanylate Cyclase; D017461:Receptors, Atrial Natriuretic Factor; C091715:atrial natriuretic factor receptor A