Standard

Pulmonary arterial hypertension

SOX17 · rs13266183

Where this position leads

Condition: Pulmonary Arterial Hypertension

What the study found

Who was studied 2,085 European ancestry cases, 9,659 European ancestry controls.

The effect Each copy of the C allele carried 1.36 times the odds of Pulmonary arterial hypertension (95% confidence interval 1.25-1.48); p = 2 × 10⁻¹².

How common The C allele had a frequency of about 73% in the people studied.

Where it sits Chromosome 8, band 8q11.23 — between genes, 24.2 kb from RNU105C.

What each result means

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

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

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

Source

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J

and 106 more — show all

Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Soubrier F, Trégouët DA, Prokopenko I, Kittles R, Gräf S, Nichols WC, Trembath RC, Desai AA, Morrell NW, Wilkins MR

UK NIHR BioResource Rare Diseases Consortium · UK PAH Cohort Study Consortium · US PAH Biobank Consortium

The Lancet. Respiratory medicine · 2019 · PMID 30527956 · open access

Questions about rs13266183

What is rs13266183?

rs13266183 is a single position in the genome, in or near the SOX17 gene. Published research associates it with pulmonary arterial hypertension. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs13266183 linked to?

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

Does having rs13266183 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 rs13266183 come from?

GWAS Catalog, Lancet Respir Med 2018, PMID:30527956. 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.

Pulmonary arterial hypertension (rs13266183). MyGeneLog™. https://www.mygenelog.com/variants/rs13266183

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