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Hypothyroidism

near S1PR1 · rs2392239

Where this position leads

What the study found

Who was studied 98,805 European ancestry cases, 948,186 European ancestry controls, 14,588 cases, 117,082 controls; replicated in 34,835 European ancestry cases, 492,149 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.03 higher (95% confidence interval 0.02-0.04); p = 4 × 10⁻⁹.

How common The C allele had a frequency of about 66% in the people studied.

Where it sits Chromosome 1, band 1p21.2 — between genes, 0.5 kb from PPIAP7.

What each result means

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

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

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

Source

Genome-wide association study and polygenic risk prediction of hypothyroidism

Rand SA, Ahlberg G, Tragante V, Monfort LM, Zheng C, Feldt-Rasmussen U, Klose MC, Teder-Laving M, Metspalu A, Poulsen HE, Ellervik C, Nygaard B

and 18 more — show all

Erikstrup C, Bruun MT, A Jensen B, Ullum H, Brunak S, Schwinn M, Ostrowski SR, Pedersen OB, Sørensen E, Jonsdottir I, Gudbjartsson DF, Thorleifsson G, Holm H, Saevarsdottir S, Stefansson K, Salling Olesen M, Bundgaard H, Ghouse J

DBDS Genomic Consortium · Estonian Biobank Research Team · 23andMe Research Team

Nature genetics · 2025 · PMID 41238958 · open access

Questions about rs2392239

What is rs2392239?

rs2392239 is a single position in the genome, in or near the near S1PR1 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 rs2392239 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 rs2392239 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 rs2392239 come from?

GWAS Catalog, Nature genetics 2025, PMID:41238958. 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 (rs2392239). MyGeneLog™. https://www.mygenelog.com/variants/rs2392239

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