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01.12.2018 | Research article | Ausgabe 1/2018 Open Access

BMC Medical Genetics 1/2018

Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity

BMC Medical Genetics > Ausgabe 1/2018
Hao Hu, Haiyan Li, Jieqiong Li, Jintai Yu, Lan Tan, Alzheimer’s Disease Neuroimaging Initiative
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Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12881-018-0603-z) contains supplementary material, which is available to authorized users.



The activity of cerebrospinal fluid (CSF) β-site APP cleaving enzyme (BACE) is a potential diagnostic biomarker for Alzheimer disease (AD).


A 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.


One 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).


This 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.
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