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Hypothyroidism

PDE10A · rs2983514

Where this position leads

What the study found

Who was studied 3,340 European ancestry cases, 49,983 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.154 higher (95% confidence interval 0.1-0.21); p = 2 × 10⁻⁸.

How common The A allele had a frequency of about 67% in the people studied.

Where it sits Chromosome 6, band 6q27 — in an intron of PDE10A.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypothyroidism compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypothyroidism.

G/G Published research associates this genotype with typical/baseline likelihood of Hypothyroidism — no copies of the reported risk allele.

Source

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, Appel EVR, Arking DE

and 116 more — show all

Arnold A, Astrup A, Beekman M, Beilby JP, Bekaert S, Boerwinkle E, Brown SJ, De Buyzere M, Campbell PJ, Ceresini G, Cerqueira C, Cucca F, Deary IJ, Deelen J, Eckardt KU, Ekici AB, Eriksson JG, Ferrrucci L, Fiers T, Fiorillo E, Ford I, Fox CS, Fuchsberger C, Galesloot TE, Gieger C, Gögele M, De Grandi A, Grarup N, Greiser KH, Haljas K, Hansen T, Harris SE, van Heemst D, den Heijer M, Hicks AA, den Hollander W, Homuth G, Hui J, Ikram MA, Ittermann T, Jensen RA, Jing J, Jukema JW, Kajantie E, Kamatani Y, Kasbohm E, Kaufman JM, Kiemeney LA, Kloppenburg M, Kronenberg F, Kubo M, Lahti J, Lapauw B, Li S, Liewald DCM, Lim EM, Linneberg A, Marina M, Mascalzoni D, Matsuda K, Medenwald D, Meisinger C, Meulenbelt I, De Meyer T, Meyer Zu Schwabedissen HE, Mikolajczyk R, Moed M, Netea-Maier RT, Nolte IM, Okada Y, Pala M, Pattaro C, Pedersen O, Petersmann A, Porcu E, Postmus I, Pramstaller PP, Psaty BM, Ramos YFM, Rawal R, Redmond P, Richards JB, Rietzschel ER, Rivadeneira F, Roef G, Rotter JI, Sala CF, Schlessinger D, Selvin E, Slagboom PE, Soranzo N, Sørensen TIA, Spector TD, Starr JM, Stott DJ, Taes Y, Taliun D, Tanaka T, Thuesen B, Tiller D, Toniolo D, Uitterlinden AG, Visser WE, Walsh JP, Wilson SG, Wolffenbuttel BHR, Yang Q, Zheng HF, Cappola A, Peeters RP, Naitza S, Völzke H, Sanna S, Köttgen A, Visser TJ, Medici M

Lifelines Cohort Study

Nature communications · 2018 · PMID 30367059 · open access

Questions about rs2983514

What is rs2983514?

rs2983514 is a single position in the genome, in or near the PDE10A gene. Published research associates it with hypothyroidism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2983514 linked to?

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

Does having rs2983514 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 rs2983514 come from?

GWAS Catalog, Nat Commun 2018, PMID:30367059. 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.

Hypothyroidism (rs2983514). MyGeneLog™. https://www.mygenelog.com/variants/rs2983514

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