Unspecified Diffuse Connective Tissue Disease, as genome-wide studies have reported it: 10 positions from 1 study, the largest recording 720 cases and 571,903 controls (African American or Afro-Caribbean ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
This is the record of what genome-wide association studies have found for Unspecified Diffuse Connective Tissue Disease (the GWAS Catalog's "Unspecified diffuse connective tissue disease (PheCode 709.7)"): 10 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Studied in 720 cases and 571,903 controls (African American or Afro-Caribbean ancestry, European ancestry). It contributes 10 positions: rs182529846 (near HHEX), rs562481287 (near LPAR3), rs139695700 (near MIR3201), rs189923567 (KCNMB2), rs548960401 (TRIM55), rs149527404 (near ELL2P3), rs542312023 (UIMC1), rs548897351 (PTGIS), and 2 more. PMID:39024449.
The 10 positions lie in or near 10 genes: HHEX, LPAR3, MIR3201, KCNMB2, TRIM55, ELL2P3, UIMC1, PTGIS, PFKP, RPL34P27. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Verma A et al. 2024 reported the smallest P value on this page — P = 5 × 10-14 — at rs182529846 near HHEX.
Association records say which positions differ, on average, between people with Unspecified Diffuse Connective Tissue Disease 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.
A genotype does not diagnose Unspecified Diffuse Connective Tissue Disease; a clinician does. No guideline uses the 10 variants on this page to predict it, screen for it or confirm it.
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 Unspecified Diffuse Connective Tissue Disease comes down to these specific, well-studied positions — not a diagnosis.
near HHEX · rs182529846
See detailed info →near LPAR3 · rs562481287
See detailed info →near MIR3201 · rs139695700
See detailed info →KCNMB2 · rs189923567
See detailed info →TRIM55 · rs548960401
See detailed info →near ELL2P3 · rs149527404
See detailed info →UIMC1 · rs542312023
See detailed info →PTGIS · rs548897351
See detailed info →PFKP · rs138559816
See detailed info →near RPL34P27 · rs559354294
See detailed info →near HDAC4 · rs183986544
See detailed info →PCLO · rs187248060
See detailed info →near LINC02183 · rs566347593
See detailed info →LRP11 · rs570063769
See detailed info →SPOP · rs182995751
See detailed info →Databases, guidelines and references
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Unspecified Diffuse Connective Tissue Disease. MyGeneLog™. https://www.mygenelog.com/conditions/unspecified-diffuse-connective-tissue-disease
In the GWAS Catalog, Unspecified Diffuse Connective Tissue Disease is filed as "Unspecified diffuse connective tissue disease (PheCode 709.7)". Rather than define it, this page lists the genome-wide findings: 10 positions from 1 study, each with its study's sample and citation.
Genes play a part: 10 positions have been linked to it, the largest study recording 720 cases and 571,903 controls (African American or Afro-Caribbean ancestry, European 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.
The positions lie in or near 10 genes: HHEX, LPAR3, MIR3201, KCNMB2, TRIM55, ELL2P3, UIMC1, PTGIS, PFKP, RPL34P27. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Unspecified Diffuse Connective Tissue Disease is diagnosed by a clinician, and no guideline uses a genotype to predict 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.