Expressive

rs11782759 - PUF60

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association studies of Alzheimer's disease and related disorders stratified by sex, onset age, and Apolipoprotein E genotype reveal novel risk loci in African Americans - Unknown journal (n.d.) · Unknown authors · PubMed 40708016

    ABSTRACT: Background Alzheimer's disease (AD) risk variants have been identified in European ancestry cohorts that have stronger effects at certain ages, in individuals with a specific sex, or in those with specific isoforms of APOE, the strongest AD risk locus. However, sample sizes in African ancestry (AA) cohorts have been underpowered to perform stratified analyses. Methods We generated genome-wide association study datasets stratified by sex, age at onset (< 75 vs ≥ 75), and APOE-ε4 carrier status in AA cohorts from MVP and the Alzheimer's Disease Genetics Consortium (ADGC). Outcomes in MVP were AD and related dementias (ADRD; n = 4073 cases and 19,648 controls) and proxy dementia (i.e., reported dementia in a parent, n = 6216 cases and 21,566 controls) while ADGC

  • Deciphering tissue-specific protein regulation for insights into cardiometabolic disease - Unknown journal (n.d.) · Unknown authors · PubMed 41456820

    ABSTRACT: Understanding tissue-specific mechanisms of protein regulation gives crucial insights into cardiometabolic disease and informs drug discovery. Most proteomic studies have primarily concentrated on plasma, overlooking tissue-specific effects. Utilizing Olink technology, we assessed relative protein levels across plasma and tissue (aortic wall, mammary artery, liver, and skeletal muscle) from the STARNET cohort: 284 individuals with a high prevalence of coronary artery disease (CAD). We identified 608 cis protein quantitative trait loci (pQTLs), primarily in plasma, reflecting greater protein variability. Of 190 proteins with cis-pQTLs in non-plasma tissues, 50% also had plasma pQTLs, validating Olink technology in these tissues while reinforcing the relevance of plasma data for un

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