Expressive

rs118048115 - PLPP4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide pQTL analysis of protein expression regulatory networks in the human liver - Unknown journal (n.d.) · Unknown authors · PubMed 32778093

    ABSTRACT: Background Previous expression quantitative trait loci (eQTL) studies have identified thousands of genetic variants to be associated with gene expression at the mRNA level in the human liver. However, protein expression often correlates poorly with mRNA levels. Thus, protein quantitative trait loci (pQTL) study is required to identify genetic variants that regulate protein expression in human livers. Results We conducted a genome-wide pQTL study in 287 normal human liver samples and identified 900 local pQTL variants and 4026 distant pQTL variants. We further discovered 53 genome hotspots of pQTL variants. Transcriptional region mapping analysis showed that 1133 pQTL variants are in transcriptional regulatory regions. Genomic region enrichment analysis of the identified pQTL vari

  • Genome Wide Association Study of the Rate of Cognitive Decline in Alzheimer's Disease - Unknown journal (n.d.) · Unknown authors · PubMed 23535033

    ABSTRACT: Background Substantial inter-individual variability exists in the disease trajectories of Alzheimer's disease (AD) patients. Some decline rapidly while others decline slowly and there are no known explanations for this variability. We describe the first genome wide association study to examine rate of cognitive decline in a sample of AD patients with longitudinal measures of cognition. Methods The discovery sample was 303 AD cases recruited in the AD Neuroimaging Initiative and the replication sample was 323 AD cases from the Religious Orders Study and Rush Memory and Aging Project. In the discovery sample, Alzheimer's Disease Assessment Scale-cognitive subscale responses were tested for association with genome-wide SNP data using linear regression. We tested the 65 most sign

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