PhenoModifier-Variant Detail

Variant "PPARGC1A:c.1835C>T(p.Thr612Met)"

Search result: 1 record

Variant information

Gene:

PPARGC1A

Variant:

PPARGC1A:c.1835C>T(p.Thr612Met)

Genomic location:

chr4:23814707(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_013261.3:c.1835C>T(p.Thr612Met)

dbSNP ID:

rs3736265

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:

Huntington's Disease (DOID_12858)

Effect type:

Expressivity

Modifier effect:

Altered onset time

Evidence:

P=0.0164

Effect:

A coding variant (rs3736265) in PPARGC1A is associated with an earlier motor AO in men but not women carrying the HD mutation.

Reference:

PMID24383721

Title:

A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.

Species studied:

Human

Abstract:

Genetic modifiers are important clues for the identification of therapeutic targets in neurodegenerative diseases. Huntington disease (HD) is one of the most common autosomal dominant inherited neurodegenerative diseases. The clinical symptoms include motor abnormalities, cognitive decline and behavioral disturbances. Symptom onset is typically between 40 and 50 years of age, but can vary by several decades in extreme cases and this is in part determined by modifying genetic factors. The metabolic master regulator PGC-1α, coded by the PPARGC1A gene, coordinates cellular respiration and was shown to play a role in neurodegenerative diseases, including HD.