Sensitive

Paget's disease

OPTN · rs1561570

Where this position leads

What the study found

Who was studied 741 European ancestry cases, 2,699 European ancestry controls; replicated in 1,474 European ancestry cases, 1,671 European ancestry controls.

The effect Each copy of the T allele carried 1.67 times the odds of Paget's disease (95% confidence interval 1.54-1.80); p = 4 × 10⁻³⁸.

How common The T allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 10, band 10p13 — in an intron of OPTN.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Paget's disease — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Paget's disease.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Paget's disease compared to the general population.

Source

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD

and 17 more — show all

Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH

Genetic Determinants of Paget's Disease (GDPD) Consortium

Nature genetics · 2011 · PMID 21623375

Questions about rs1561570

What is rs1561570?

rs1561570 is a single position in the genome, in or near the OPTN gene. Published research associates it with paget's disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1561570 linked to?

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

Does having rs1561570 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 rs1561570 come from?

GWAS Catalog, Nature genetics 2011, PMID:21623375. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Paget's disease (rs1561570). MyGeneLog™. https://www.mygenelog.com/variants/rs1561570

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