Gene "CALM3"
Found 4 records
Gene information
Gene symbol:
CALM3
See related:
Ensembl: ENSG00000160014, Gene ID: 808
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
4 
Disorder:
3 
Vriant:
3 
Reference:
2 
Effect type:
Expressivity(4)  
Modifier effect:
Risk factor(4)  
Details：
  • Variant 1:
    CALM3:rs150954567
    Gene:
    CALM3
    Genomic location:
    dbSNP ID:
    rs150954567
    Target disease:
    Familial Hypertrophic Cardiomyopathy(DOID_0080326)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0005 
    Effect:
    The -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy.
    Reference:
    PMID19429631
    Title:
    A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be of importance given the key role of Ca(2+) for cardiac contractile function and growth. Any variant that affects CaM expression and/or function may impact on FHC clinical expression.
  • Variant 2:
    CALM3:rs13477425
    Gene:
    CALM3
    Genomic location:
    dbSNP ID:
    rs13477425
    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:
    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.
    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.
  • Variant 3:
    CALM3:rs13477425
    Gene:
    CALM3
    Genomic location:
    dbSNP ID:
    rs13477425
    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:
    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.
    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.
  • Variant 4:
    CALM3:-34T>A
    Gene:
    CALM3
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Hypertrophic Cardiomyopathy(DOID_0080326)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0005 
    Effect:
    The -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy.
    Reference:
    PMID19429631
    Title:
    A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be of importance given the key role of Ca(2+) for cardiac contractile function and growth. Any variant that affects CaM expression and/or function may impact on FHC clinical expression.