EFCAB5
calcium-binding domain-containing protein 5
Publications[править]
Identifying genes regulating the pace of epigenetic ageing represents a new frontier in genome-wide association studies (GWASs). Here using 1,796 brain samples from 1,163 individuals, we carry out a GWAS of two DNA methylation-based biomarkers of brain age: the epigenetic ageing rate and estimated proportion of neurons. Locus 17q11.2 is significantly associated (P=4.5 × 10 ) with the ageing rate across five brain regions and harbours a cis-expression quantitative trait locus for EFCAB5 (P=3.4 × 10 ). Locus 1p36.12 is significantly associated (P=2.2 × 10 ) with epigenetic ageing of the prefrontal cortex, independent of the proportion of neurons. Our GWAS of the proportion of neurons identified two genome-wide significant loci (10q26 and 12p13.31) and resulted in a gene set that overlaps significantly with sets found by GWAS of age-related macular degeneration (P=1.4 × 10 ), ulcerative colitis (P<1.0 × 10 ), type 2 diabetes (P=2.8 × 10 ), hip/waist circumference in men (P=1.1 × 10 ), schizophrenia (P=1.6 × 10 ), cognitive decline (P=5.3 × 10 ) and Parkinson's disease (P=8.6 × 10 ).
MeSH Terms
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Aging
- Brain
- Brain Mapping
- Calcium-Binding Proteins
- Child
- Child, Preschool
- Cognitive Dysfunction
- DNA Methylation
- Epigenesis, Genetic
- Female
- Genome, Human
- Genome-Wide Association Study
- Humans
- Infant
- Male
- Middle Aged
- Nerve Tissue Proteins
- Neurodegenerative Diseases
- Neurons
- Quantitative Trait Loci