PhenoModifier-Gene Detail

Gene "TLR6"

Found 1 record

Gene information

Gene symbol:

TLR6

See related:

Ensembl: ENSG00000174130, Gene ID: 10333

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Pleiotropy(1)

Modifier effect:

Association with lesion counts(1)

Detail：

Variant 1:

TLR6:rs73811240

Gene:

TLR6

Genomic location:

dbSNP ID:

rs73811240

Target disease:

Cerebral Cavernous Malformation(DOID_0060669)

Effect type:

Pleiotropy

Modifier effect:

Association with lesion counts

Evidence:

P=0.015

Effect:

These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.

Reference:

PMID25472749

Title:

Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.

Species studied:

Human

Abstract:

Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count.