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Polypeptide N-acetylgalactosaminyltransferase 18 (EC (Polypeptide GalNAc transferase 18) (GalNAc-T18) (Polypeptide GalNAc transferase-like protein 4) (GalNAc-T-like protein 4) (pp-GaNTase-like protein 4) (Polypeptide N-acetylgalactosaminyltransferase-like protein 4) (Protein-UDP acetylgalactosaminyltransferase-like protein 4) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4) [GALNTL4]


Genome-wide association study identifies [i]SIAH3[/i] locus influencing the rate of ventricular enlargement in non-demented elders.

Ventricular enlargement occurs in several neurodegenerative and psychiatric diseases. A large genome-wide association study (GWAS) has identified seven loci associated with ventricular volume. The rate of ventricular enlargement increased in the progression of disease from normal cognition to dementia. Here, we aimed to use the rate of ventricular enlargement as an endophenotype for the development and progression of neurodegenerative diseases to discover more common genetic variants. We performed a GWAS of the rate of ventricular enlargement using 507 nondemented non-Hispanic white participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Linear regression model was used to identify the association of the rate of ventricular enlargement with single nucleotide polymorphisms (SNPs) in PLINK software. The associations of genome-wide significant SNPs with other four phenotypes were further discussed. Two SNPs (rs11620312, P = 4.04×10 ; rs79174114, P = 4.28×10 ) within [i]SIAH3[/i] gene in linkage disequilibrium (LD) reached genome-wide significance for association with increased rate of ventricular enlargement. Some intergenic SNPs and SNPs within [i]NKAIN2, TBC1D2, GALNT18, ABCC1[/i] and [i]SRCIN1[/i] genes were identified as potential candidates. [i]SIAH3[/i] rs11620312-C carriers were associated with poor cognition and brain hypometabolism longitudinally. Our findings indicated that [i]SIAH3[/i] gene may have potential influence on the pathogenesis of neurodegenerative diseases.

MeSH Terms

  • Aged
  • Aged, 80 and over
  • Aging
  • Alzheimer Disease
  • Cerebral Ventricles
  • Cognitive Dysfunction
  • Cohort Studies
  • Dementia
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neuroimaging
  • Nuclear Proteins
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Ubiquitin-Protein Ligases


  • SIAH3
  • genome-wide association study
  • neurodegenerative diseases
  • ventricular enlargement