A narrowing of the neck arteries that supply the brain, and a real stroke risk factor. The study behind this page confirmed a well-known lipoprotein(a) link and found a second, genuinely new locus that -- unlike the first -- does not also raise coronary heart disease risk.
Carotid artery stenosis is a narrowing of the carotid arteries, the major vessels in the neck that supply blood to the brain, almost always caused by atherosclerotic plaque buildup. It is a recognized risk factor for stroke -- a piece of plaque, or a clot forming on it, can break loose and travel to the brain, or the narrowing itself can restrict blood flow directly.
The study behind this page used electronic health records across the eMERGE network -- 1,793 carotid artery atherosclerotic disease cases and 17,958 controls -- and replicated its findings in UK Biobank. Its own headline result was two loci: a variant in LPA (rs10455872, odds ratio 1.50), confirming an already well-established connection between lipoprotein(a) -- a cholesterol-carrying particle strongly genetically determined -- and this disease; and a genuinely new locus, an intergenic variant on chromosome 7 (rs6952610, odds ratio 1.25). Notably, the chromosome 7 variant was not associated with coronary heart disease in the same dataset, while the LPA variant was -- real evidence that this new locus affects carotid artery disease through a pathway at least partly distinct from general coronary atherosclerosis, not just the same risk factor showing up in two places.
The variant actually catalogued on this page, rs2526620 near HDAC9, is a further association this same study reports -- not one of the two loci its own abstract headlines. HDAC9 is independently a well-known locus in other large-vessel cardiovascular disease genetics, which makes this a biologically plausible additional finding, stated here as a further result from the study rather than its main point.
Carotid artery stenosis is diagnosed by imaging -- carotid ultrasound is typically first, with CT or MR angiography for more detail -- often prompted by a stroke or transient ischemic attack ("mini-stroke"), or found incidentally. Management depends on severity and symptoms: risk-factor control (blood pressure, cholesterol, smoking cessation) for milder cases, and carotid endarterectomy or stenting for severe, symptomatic stenosis. None of this depends on genotype.
Lipoprotein(a) is the one number worth actually knowing here. The LPA locus this study confirmed is a strong, well-established, largely genetically-determined risk factor -- a blood Lp(a) test is a real, clinically available way to know where someone stands on that specific axis, unlike most of the polygenic risk this page otherwise describes.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Carotid Artery Stenosis comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Carotid Artery Stenosis. MyGeneLog™. https://www.mygenelog.com/conditions/carotid-artery-stenosis
No. The study that reports it actually headlines two different loci -- LPA and a novel chromosome 7 variant -- as its main finding. The HDAC9 variant catalogued here is a further association the same study reports, not its headline result.
Yes -- a blood lipoprotein(a), or Lp(a), test is clinically available and reflects a largely genetically-determined risk factor directly, unlike most of the polygenic risk this catalogue otherwise describes.
That page is specifically about HIV infection as a risk factor for carotid atherosclerosis. This page is about carotid artery stenosis as a general-population outcome, from a study of the broader population.
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