Familial Combined Hyperlipidemia Defined by Consensus Criteria, as genome-wide studies have reported it: 4 positions from 1 study, the largest recording 39,961 cases and 309,261 controls. Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Familial Combined Hyperlipidemia Defined by Consensus Criteria — filed in the GWAS Catalog as "Familial combined hyperlipidemia defined by Consensus criteria" — is a condition this catalogue follows as its positions arrive. This page is assembled by MyGeneLog's own code from the catalogue's records and the studies' own listings: 4 positions from 1 study, and no sentence written by hand. It is rebuilt as new positions are reported, so what it says is what the records say today.
Trinder M et al. 2022, in Atherosclerosis — Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia. Sample in the catalogue's record: 39,961 cases and 309,261 controls. From it, 4 positions on this page: rs41279732 (ATXN7L2), rs6073952 (PLTP), rs55807911 (BABAM2), rs1337247 (ELAPOR1). PMID:34906840.
The catalogue maps the 4 positions to 4 genes: ATXN7L2, PLTP, BABAM2, ELAPOR1. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
The strongest association in the records is rs41279732 in ATXN7L2, reported by Trinder M et al. 2022 at P = 4 × 10-16.
Association records say which positions differ, on average, between people with Familial Combined Hyperlipidemia Defined by Consensus Criteria and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Familial Combined Hyperlipidemia Defined by Consensus Criteria. The 4 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Familial Combined Hyperlipidemia Defined by Consensus Criteria comes down to these specific, well-studied positions — not a diagnosis.
BABAM2 · rs55807911
See detailed info →ATXN7L2 · rs41279732
See detailed info →PLTP · rs6073952
See detailed info →ELAPOR1 · rs1337247
See detailed info →Databases, guidelines and references
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Familial Combined Hyperlipidemia Defined by Consensus Criteria. MyGeneLog™. https://www.mygenelog.com/conditions/familial-combined-hyperlipidemia-defined-by-consensus-criteria
In the GWAS Catalog, Familial Combined Hyperlipidemia Defined by Consensus Criteria is filed as "Familial combined hyperlipidemia defined by Consensus criteria". Rather than define it, this page lists the genome-wide findings: 4 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 4 associated positions; the largest study behind this page recorded 39,961 cases and 309,261 controls. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 4 genes: ATXN7L2, PLTP, BABAM2, ELAPOR1. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Familial Combined Hyperlipidemia Defined by Consensus Criteria from a genotype; a clinician diagnoses it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.