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Hypertrophic Cardiomyopathy, as genome-wide studies have reported it: 24 positions from 4 studies, the largest recording 890 cases and 666,965 controls (European ancestry, East Asian ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
What this condition connects to
Prevalence
Not taken from these records, which report study sizes rather than how common the condition is. The largest study behind this page recorded 890 cases and 666,965 controls (European ancestry, East Asian ancestry) (Sakaue S et al. 2021, PMID:34594039).
Inheritance
The records show a polygenic pattern — 24 positions from 4 studies, each a common variant of small effect. How much of Hypertrophic Cardiomyopathy is inherited is not something they measure.
Genome-wide studies have so far placed 24 positions on Hypertrophic Cardiomyopathy, from 4 studies; the GWAS Catalog files the condition as "Hypertrophic cardiomyopathy". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
The studies, one by one
Tadros R et al. 2025, in Nature Genetics — Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy. The catalogue records its sample as 5,858 cases and 67,234 controls (African ancestry, admixed, East Asian ancestry, European ancestry, South Asian ancestry). The 11 positions on this page from it: rs2644262 (FHOD3), rs78310129 (near OR5BQ1P), rs12212795 (near SLC35F1), rs7487962 (near TBX3-AS1), rs13061705 (near LSM3), rs17817857 (HLF), rs2540277 (TMEM182), rs56005624 (CCDC141), and 3 more. PMID:39966646.
Harper AR et al. 2021, in Nature Genetics — Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Sample in the catalogue's record: 871 cases and 20,192 controls (African ancestry, Hispanic/Latino ancestry, East Asian ancestry, European ancestry, South Asian ancestry). It contributes 6 positions: rs4799426 (FHOD3), rs142929136 (AMBRA1), rs118060942 (FHOD3), rs139913353 (OR5AK2), rs74605438 (AC103855.3), rs7210446 (PRKCA). PMID:33495597.
Sakaue S et al. 2021, in Nature Genetics — A cross-population atlas of genetic associations for 220 human phenotypes. Studied in 890 cases and 666,965 controls (European ancestry, East Asian ancestry). It contributes 4 positions: rs764568652 (PRG3), rs187474069 (ARHGAP1), rs546759453 (near OR5B12), rs185502387 (near MS4A6E). PMID:34594039.
Tadros R et al. 2021, in Nature Genetics — Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Studied in 1,733 cases and 6,628 controls (European ancestry). From it, 3 positions on this page: rs66761782 (CDKN1A), rs3740293 (SYNPO2L), rs4385202 (DNAJC18). PMID:33495596.
Where they lie in the genome
The catalogue maps the 24 positions to 22 genes: FHOD3, OR5BQ1P, SLC35F1, TBX3-AS1, LSM3, HLF, TMEM182, CCDC141, STRN, LINC02775, TRDN-AS1, AMBRA1, OR5AK2, AC103855.3, PRKCA, PRG3, ARHGAP1, OR5B12, MS4A6E, CDKN1A and 2 more. 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.
Of all these, rs2644262 in FHOD3 carries the strongest signal: P = 2 × 10-46, in Tadros R et al. 2025.
What this page is, and is not
Read this page as a list of findings about Hypertrophic Cardiomyopathy, not as an account of it. Each finding is a position that a genome-wide study linked to the condition across a population; the page adds no description, no prevalence and no advice, because the records hold none. The variant pages linked above give each study's record for its position, and ClinVar's where one exists.
Clinical detail
What is actually diagnosed and treated here
A genotype does not diagnose Hypertrophic Cardiomyopathy; a clinician does. No guideline uses the 24 variants on this page to predict it, screen for it or confirm it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
Related variants MyGeneLog™ checks for
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Hypertrophic Cardiomyopathy comes down to these specific, well-studied positions — not a diagnosis.
Nature genetics · 2021 · PMID 33495596 · open access
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Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Hypertrophic Cardiomyopathy is the condition the GWAS Catalog files under "Hypertrophic cardiomyopathy". This page does not define it in its own words; it lists what genome-wide studies have reported: 24 positions from 4 studies, with each study's sample and citation.
Is Hypertrophic Cardiomyopathy genetic?
Genes play a part: 24 positions have been linked to it, the largest study recording 890 cases and 666,965 controls (European ancestry, East Asian ancestry). But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
Which genes are linked to Hypertrophic Cardiomyopathy on this page?
The positions lie in or near 22 genes: FHOD3, OR5BQ1P, SLC35F1, TBX3-AS1, LSM3, HLF, TMEM182, CCDC141, STRN, LINC02775, TRDN-AS1, AMBRA1, OR5AK2, AC103855.3, PRKCA, PRG3, ARHGAP1, OR5B12, MS4A6E, CDKN1A and 2 more. A mapped gene is the catalogue's location for a position, not a mechanism.
Can these variants predict whether I will get Hypertrophic Cardiomyopathy?
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Hypertrophic Cardiomyopathy 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.