| http://purl.uniprot.org/citations/35246634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35246634 | http://www.w3.org/2000/01/rdf-schema#comment | "Alzheimer's disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency <0.01) associated with AD in a region-based, whole-genome sequencing (WGS) association study (rvGWAS) of two independent AD family datasets (NIMH/NIA; 2247 individuals; 605 families). Employing a sliding window approach across the genome, we identified several regions that achieved association p values <10-6, using the burden test or the SKAT statistic. The genomic region around the dystobrevin beta (DTNB) gene was identified with the burden and SKAT test and replicated in case/control samples from the ADSP study reaching genome-wide significance after meta-analysis (pmeta = 4.74 × 10-8). SKAT analysis also revealed region-based association around the Discs large homolog 2 (DLG2) gene and replicated in case/control samples from the ADSP study (pmeta = 1 × 10-6). In conclusion, in a region-based rvGWAS of AD we identified two novel AD genes, DLG2 and DTNB, based on association with rare variants."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41380-022-01475-0"xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Hide W."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Lee S."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Katsumata Y."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Lange C."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Tanzi R.E."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Mullin K."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Morgan S."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Bertram L."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Hecker J."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Weiner M.W."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Laird N."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Fardo D.W."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/author | "Prokopenko D."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/name | "Mol Psychiatry"xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/pages | "1963-1969"xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/title | "Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2."xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://purl.uniprot.org/core/volume | "27"xsd:string |
| http://purl.uniprot.org/citations/35246634 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35246634 |
| http://purl.uniprot.org/citations/35246634 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/35246634 |
| http://purl.uniprot.org/uniprot/#_E9PEY4-mappedCitation-35246634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35246634 |
| http://purl.uniprot.org/uniprot/#_B7Z202-mappedCitation-35246634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35246634 |