| http://purl.uniprot.org/citations/29751835 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29751835 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundThe activity of cerebrospinal fluid (CSF) β-site APP cleaving enzyme (BACE) is a potential diagnostic biomarker for Alzheimer disease (AD).MethodsA total of 340 non-Hispanic Caucasian participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI) database were included in this study with quality-controlled CSF BACE and genotype data. Association of CSF BACE with the genetic variants of single nucleotide polymorphisms (SNPs) was assessed using PLINK under the additive genetic model. The P values of all SNPs for CSF BACE were adjusted for multiple comparisons.ResultsOne SNP (rs1481950) in the ATP6V1H gene reached genome-wide significance for associations with CSF BACE (P = 4.88 × 10-9). The minor allele (G) of rs1481950 was associated with higher CSF BACE activity. Although seven SNPs in SNX31, RORA, CDH23, RGS20, LRRC4C, MAPK6PS1 and LOC105378355 did not reach genome-wide significance (P < 10-8), they were identified as suggestive loci (P < 10-5).ConclusionThis study identified rs1481950 within ATP6V1H influencing human CSF BACE activity, which indicated that ATP6V1H gene may play some roles in the pathogenesis of neurodegenerative diseases such as AD."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.org/dc/terms/identifier | "doi:10.1186/s12881-018-0603-z"xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/author | "Hu H."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/author | "Li H."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/author | "Yu J."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/author | "Tan L."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/name | "BMC Med Genet"xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/pages | "75"xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/title | "Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity."xsd:string |
| http://purl.uniprot.org/citations/29751835 | http://purl.uniprot.org/core/volume | "19"xsd:string |
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