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Type 1 narcolepsy

NEMP2-DT · rs72917118

Where this position leads

What the study found

Who was studied 213 African American or Afro-Caribbean cases, 1,747 African American or Afro-Caribbean controls, 2,412 East Asian ancestry cases, 5,902 East Asian ancestry controls, 3,448 European ancestry cases, 77,207 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.209 lower (95% confidence interval 0.14-0.27); p = 1 × 10⁻¹⁰.

Where it sits Chromosome 2, band 2q32.2 — in an intron of NEMP2-DT.

What each result means

C/C No copy of the version the research linked to Type 1 narcolepsy. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Type 1 narcolepsy. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Type 1 narcolepsy. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J

and 78 more — show all

Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS, Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ

FinnGen

Nature communications · 2023 · PMID 37188663 · open access

Questions about rs72917118

What is rs72917118?

rs72917118 is a single position in the genome, in or near the NEMP2-DT gene. Published research associates it with type 1 narcolepsy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs72917118 linked to?

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

Does having rs72917118 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 rs72917118 come from?

GWAS Catalog, Nature communications 2023, PMID:37188663. 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.

Type 1 narcolepsy (rs72917118). MyGeneLog™. https://www.mygenelog.com/variants/rs72917118

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