EFCAB5

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calcium-binding domain-containing protein 5

Publications[править]

Genetic architecture of epigenetic and neuronal ageing rates in human brain regions.

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