Expressive

rs11168036 - PFDN1 - HBEGF

Magnitude 2.2 · 3 studies on file

Reported associations

  • A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN - Unknown journal (n.d.) · Unknown authors · PubMed 25778476

    ABSTRACT: APOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ε4+ (10,352 cases and 9,207 controls) and APOE ε4− (7,184 cases and 26,968 controls) subgroups as well as in the total sample testing for interaction between a SNP and APOE ε4 status. Suggestive associations (P<1x10−4) in stage 1 were evaluated in an independent sample (stage 2) containing 4,203 subjects (APOE ε4+: 1,250 cases and 536 controls; APOE ε4-: 718 cases and 1,699 controls). Among APOE ε4− subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chrom

  • Transethnic genome-wide scan identifies novel Alzheimer disease loci - Unknown journal (n.d.) · Unknown authors · PubMed 28183528

    ABSTRACT: BACKGROUND Genetic loci for Alzheimer disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. METHODS We conducted a transethnic genome-wide association study (GWAS) for late-onset AD in Stage 1 sample including whites of European Ancestry, African Americans, Japanese, and Israeli-Arabs assembled by the Alzheimer's Disease Genetics Consortium (ADGC). Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project (IGAP) GWAS dataset. RESULTS Genome-wide significant (GWS) associations in SNP-based tests (P<5×10−8) were identified for SNPs in PFDN1/HBEGF, USP6NL/ECHDC3, and BZRAP1-AS1, and for the interaction of

  • A genome‐wide association meta‐analysis of all‐cause and vascular dementia - Unknown journal (n.d.) · Unknown authors · PubMed 39046104

    ABSTRACT: Abstract INTRODUCTION Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD. METHODS We conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors. RESULTS For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonanc

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.