PhenoModifier-Variant Detail

Variant "CALHM1:c.257T>C(p.Leu86Pro)"

Search result: 1 record

Variant information

Gene:

CALHM1

Variant:

CALHM1:c.257T>C(p.Leu86Pro)

Genomic location:

chr10:105218252(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001001412.3:c.257T>C(p.Leu86Pro)

dbSNP ID:

rs2986017

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

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.