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Contracture of palmar fascia [Dupuytren's disease] (PheCode 728.71)

PRKN · rs140287116

Where this position leads

Condition: Dupuytren's Disease

rs140287116 Condition: Dupuytren's Disease Dupuytren's Disease Condition rs140287116 rs140287116 PRKN

What the study found

Who was studied 451 African American or Afro-Caribbean cases, 121,079 African American or Afro-Caribbean controls, 7,037 European ancestry cases, 440,326 European ancestry controls, 391 Hispanic or Latin American cases, 59,234 Hispanic or Latin American controls.

The effect Each copy of the G allele shifted the measure 2.79 lower (95% confidence interval 2.76-2.81); p = 1 × 10−16.

How common The G allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 6, band 6q26 — in an intron of PRKN.

What each result means

A/A No copy of the version the research linked to Contracture of palmar fascia [Dupuytren's disease] (PheCode 728.71). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Contracture of palmar fascia [Dupuytren's disease] (PheCode 728.71). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Contracture of palmar fascia [Dupuytren's disease] (PheCode 728.71). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs140287116

What is rs140287116?

rs140287116 is a single position in the genome, in or near the PRKN gene. Published research associates it with contracture of palmar fascia [dupuytren's disease] (phecode 728.71). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs140287116 linked to?

On MyGeneLog this position is linked to Dupuytren's Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs140287116 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs140287116 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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.

Contracture of palmar fascia [Dupuytren's disease] (PheCode 728.71) (rs140287116). MyGeneLog™. https://www.mygenelog.com/variants/rs140287116

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