Gene "CALHM1"
Found 1 record
Gene information
Gene symbol:
CALHM1
See related:
Ensembl: ENSG00000185933, Gene ID: 255022
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Variant 1:
    CALHM1:c.257T>C(p.Leu86Pro)
    Gene:
    CALHM1
    Genomic location:
    chr10:105218252
    dbSNP ID:
    rs2986017
    Target disease:
    Alzheimer's Disease(DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    P<0.05 
    Effect:
    CALHM1 P86L polymorphism may modulate age of onset
    Reference:
    PMID20847397
    Title:
    The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
    Species studied:
    Human
    Abstract:
    The only established genetic determinant of non-Mendelian forms of Alzheimer's disease (AD) is the ε4 allele of the apolipoprotein E gene (APOE). Recently, it has been reported that the P86L polymorphism of the calcium homeostasis modulator 1 gene (CALHM1) is associated with the risk of developing AD. In order to independently assess this association, we performed a meta-analysis of 7,873 AD cases and 13,274 controls of Caucasian origin (from a total of 24 centers in Belgium, Finland, France, Italy, Spain, Sweden, the UK, and the USA). Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the ε4 allele of the APOE gene.