Variant "ACE2:c.187-1746C>G"
Search results: 3 records
Variant information
Gene:
ACE2 
Variant:
ACE2:c.187-1746C>G 
Genomic location:
chrX:15614872(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_021804.2:c.187-1746C>G
dbSNP ID:
rs6632677  
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
2 
Reference:
2 
Effect type:
Expressivity(3)  
Modifier effect:
Risk factor(3)  
Details：
  • Target disease:
    Dilated Cardiomyopathy (DOID_12930)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    There was significant gene-gene interaction between these snps and three-way snp combination of ace2 c>g, tnn13k c>t, calm3 a>t gene variants and was associated with high risk of hcm and dcm. 
    Effect:
    ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM
    Reference:
    PMID28744816
    Title:
    ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.
    Species studied:
    Human
    Abstract:
    The marked clinical and genetic heterogeneity seen in hypertrophic (HCM) and dilated cardiomyopathies (DCM) suggests involvement of disease modifiers and environmental factors in the pathophysiology of these diseases. In the current study, we examined association of single nucleotide polymorphisms (SNPs) of three candidate genes, ACE2 (rs6632677), TNNI3K (rs49812611) and CALM3 (rs13477425) with clinical phenotypes of HCM and DCM patients of North Indian ethnicity. Prevalence of ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM subjects as compared to controls. Prevalence of TNNI3K (3784 C>T) and CALM3 (-34T>A) variant homozygous genotype were significantly higher in HCM and DCM subjects as compared to controls. DCM patients with CT genotype showed significant decrease in LVEF as compared to CC genotype (p<0.03). There was significant gene-gene interaction between these SNPs and three-way SNP combination of ACE2 C>G, TNN13K C>T, CALM3 A>T gene variants and was associated with high risk of HCM and DCM. Presence of ACE2 (7160726 C>G) and CALM3 (-34T>A) variant genotypes in HCM Patients with mutations (sarcomeric or non sarcomeric genes) was associated with increased mean septal thickness, further suggesting a role of these gene variants in modifying disease phenotype. Our results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifiers of these diseases.
  • Target disease:
    Hypertrophic Cardiomyopathy (DOID_11984)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.11, 95% CI: 1.03 - 1.21, P=0.002 
    Effect:
    Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.
    Reference:
    PMID18208662
    Title:
    Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM.
  • Target disease:
    Hypertrophic Cardiomyopathy (DOID_11984)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    There was significant gene-gene interaction between these snps and three-way snp combination of ace2 c>g, tnn13k c>t, calm3 a>t gene variants and was associated with high risk of hcm and dcm. 
    Effect:
    ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM
    Reference:
    PMID28744816
    Title:
    ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.
    Species studied:
    Human
    Abstract:
    The marked clinical and genetic heterogeneity seen in hypertrophic (HCM) and dilated cardiomyopathies (DCM) suggests involvement of disease modifiers and environmental factors in the pathophysiology of these diseases. In the current study, we examined association of single nucleotide polymorphisms (SNPs) of three candidate genes, ACE2 (rs6632677), TNNI3K (rs49812611) and CALM3 (rs13477425) with clinical phenotypes of HCM and DCM patients of North Indian ethnicity. Prevalence of ACE2 (7160726 C>G) variant genotypes (CG and GG) was significantly higher in DCM subjects as compared to controls. Prevalence of TNNI3K (3784 C>T) and CALM3 (-34T>A) variant homozygous genotype were significantly higher in HCM and DCM subjects as compared to controls. DCM patients with CT genotype showed significant decrease in LVEF as compared to CC genotype (p<0.03). There was significant gene-gene interaction between these SNPs and three-way SNP combination of ACE2 C>G, TNN13K C>T, CALM3 A>T gene variants and was associated with high risk of HCM and DCM. Presence of ACE2 (7160726 C>G) and CALM3 (-34T>A) variant genotypes in HCM Patients with mutations (sarcomeric or non sarcomeric genes) was associated with increased mean septal thickness, further suggesting a role of these gene variants in modifying disease phenotype. Our results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifiers of these diseases.