Gene "CLCA1"
Found 2 records
Gene information
Gene symbol:
CLCA1
See related:
Ensembl: ENSG00000016490, Gene ID: 1179
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Variant 1:
    CLCA1:rs2734705
    Gene:
    CLCA1
    Genomic location:
    dbSNP ID:
    rs2734705
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.002 
    Effect:
    The polymorphism is associated with the CF severity.
    Reference:
    PMID20179644
    Title:
    Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.
    Species studied:
    Human
    Abstract:
    In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.
  • Variant 2:
    CLCA1:p.S357N
    Gene:
    CLCA1
    Genomic location:
    dbSNP ID:
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.009 
    Effect:
    CLCA1 has important functions in CF-related intestinal obstruction in humans
    Reference:
    PMID20179644
    Title:
    Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.
    Species studied:
    Human
    Abstract:
    In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.