ArticleMammalian genome : official journal of the International Mammalian Genome Society2025
Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Rare and common variants in ERAP1 and ERAP2 selected for in response to Yersinia pestis infection contribute to autoimmune disease including inflammatory bowel disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Elevated cholesterol increases risk of diseases such as heart disease, chronic kidney disease and diabetes and early detection and diagnosis is desirable to enable preventative intervention. This study seeks to elucidate genetic factors affecting low-density lipoprotein cholesterol (LDL-C) levels in blood, enabling development of personalised strategies for lipid management and cardiovascular disease prevention. GenePy, a gene pathogenicity scoring tool, condenses genetic variant data into a single burden score for both individuals and genes. GenePy scores were evaluated across all genes to assess their association with blood cholesterol levels, excluding participants on cholesterol-lowering medications. Nonparametric tests analysed the relationship between GenePy scores and cholesterol levels in those aged < 60 years and ≥ 60 years. GenePy was effective in identifying PCSK9, APOE, and LDLR as the genes most critically influencing plasma cholesterol at a population level. Of note, the strongest genetic effect observed was a protective loss of function effect in the PCSK9 gene. Novel significant signals driving blood LDL-C levels that are common to both age groups include: BPIFB6 that has a role in lipid binding and transport; FAIM that has a role in regulation of lipogenesis, SLAMF9 previously implicated in macrophage cholesterol loading; CLU-a component of HDL; SAA1 with a known role in cholesterol homeostasis. A gene-based analysis integrating common, rare, and private variations identifies genes influencing blood LDL-C levels. Developing effective polygenic risk scores requires a comprehensive understanding of genetic factors affecting cholesterol to improve prediction and personalise treatment plans.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.