Active: Frontotemporal lobar degeneration Clear all

GWAS 2025-04-25

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Pottier C, Küçükali F et al.

Nat Commun

Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-T...

FTLD-TDP

4128

Participants

N/A

Studies

Details PubMed

GWAS 2018-04-30

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X et al.

Lancet Neurol

Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN ...

Behavioural changes in frontotemporal lobe dementia

Replicated

382

Participants

N/A

Studies

Details PubMed

GWAS 2010-12-10

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Carrasquillo MM, Nicholson AM et al.

Am J Hum Genet

Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function mutations in the...

Progranulin levels

Replicated

977

Participants

N/A

Studies

Details PubMed

GWAS 2010-02-14

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Van Deerlin VM, Sleiman PM et al.

Nat Genet

Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The ...

Frontotemporal lobar degeneration

Replicated

3666

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Pottier C, Küçükali F et al.

Nat Commun

FTLD-TDP

2025-04-25

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X et al.

Lancet Neurol

Behavioural changes in frontotemporal lobe dementia

2018-04-30

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Carrasquillo MM, Nicholson AM et al.

Am J Hum Genet

Progranulin levels

2010-12-10

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Van Deerlin VM, Sleiman PM et al.

Nat Genet

Frontotemporal lobar degeneration

2010-02-14