Variant "CMA1:c.-1903A"
Search result: 1 record
Variant information
Gene:
CMA1 
Variant:
CMA1:c.-1903A 
Genomic location:
chr14:24979338(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001836.4:c.-1897G>A
protein_coding NM_001308083.1:c.-3652G>A
CMA1-CTSG:n.24979338C>T
dbSNP ID:
rs1800875  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Hypertrophic Cardiomyopathy (DOID_11984)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Severity of heart hypertrophy were associated with pejorative genotype of AGT M235T polymorphism and CMA1 A(-1903) polymorphism
    Reference:
    PMID25102745
    Title:
    Renin-angiotensin-aldosterone system in hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Keeping in mind an important role of renin-angiotensin aldosterone system (RAS) in developing of cardiac remodeling and fibrosis, genetic polymorphisms coding its components could have influence with clinical variants of the course. Biomarkers could appear predictors of adverse. To examine the contribution of the RAS to developing of different hypertrophic cardiomyopathy (HCM) clinical variants of the course we studied 58 patients with HCM and controls comparable by age and gender. All patients were genotyped of gene polymorphisms CMA1 A(-1903)G rs1800875, AGTM235T rs699, AGTR1 A1166C rs5186, CYP11B2-344 T/C rs1799998. Angiotensin-converting enzyme (ACE) and angiotensin II (AII) levels were measured in 40 patients with HCM and 39 controls. We found out that AII were significantly decreased in patients with HCM than in healthy controls. The positive correlation between AII and left ventricle posterior wall (LVPW) were detected. Severity of heart hypertrophy were associated with pejorative genotype of AGT M235T polymorphism and CMA1 A(-1903) polymorphism. Significant association between the AG genotype of CMA1 A(-1903) polymorphism and angina class II-III and ventricular extrasystole of high gradation was observed. Our data not only support the hypothesis that RAAS polymorphisms may influence phenotype, but also allow for create new approaches to possible predicting adverse outcomes.