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Idiopathic pulmonary fibrosis

RTEL1 · rs41308092

Where this position leads

Condition: Idiopathic Pulmonary Fibrosis

rs41308092 Condition: Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Condition rs41308092 rs41308092 RTEL1

What the study found

Who was studied 2,668 European ancestry cases, 8,591 European ancestry controls; replicated in 1,456 European ancestry cases, 11,874 European ancestry controls.

The effect Each copy of the A allele carried 1.82 times the odds of Idiopathic pulmonary fibrosis (95% confidence interval 1.51-2.19); p = 2 × 10−10.

How common The A allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 20, band 20q13.33 — in an intron of RTEL1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Idiopathic pulmonary fibrosis compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Idiopathic pulmonary fibrosis.
G/G Published research associates this genotype with typical/baseline likelihood of Idiopathic pulmonary fibrosis — no copies of the reported risk allele.
Source
Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis
Allen RJ, Guillen-Guio B, Oldham JM, Ma SF, Dressen A, Paynton ML, Kraven LM, Obeidat M, Li X, Ng M, Braybrooke R, Molina-Molina M
and 54 more — show all
Hobbs BD, Putman RK, Sakornsakolpat P, Booth HL, Fahy WA, Hart SP, Hill MR, Hirani N, Hubbard RB, McAnulty RJ, Millar AB, Navaratnam V, Oballa E, Parfrey H, Saini G, Whyte MKB, Zhang Y, Kaminski N, Adegunsoye A, Strek ME, Neighbors M, Sheng XR, Gudmundsson G, Gudnason V, Hatabu H, Lederer DJ, Manichaikul A, Newell JD Jr, O'Connor GT, Ortega VE, Xu H, Fingerlin TE, Bossé Y, Hao K, Joubert P, Nickle DC, Sin DD, Timens W, Furniss D, Morris AP, Zondervan KT, Hall IP, Sayers I, Tobin MD, Maher TM, Cho MH, Hunninghake GM, Schwartz DA, Yaspan BL, Molyneaux PL, Flores C, Noth I, Jenkins RG, Wain LV
American journal of respiratory and critical care medicine · 2020 · PMID 31710517 · open access

Questions about rs41308092

What is rs41308092?

rs41308092 is a single position in the genome, in or near the RTEL1 gene. Published research associates it with idiopathic pulmonary fibrosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs41308092 linked to?

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

Does having rs41308092 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 rs41308092 come from?

GWAS Catalog, American journal of respiratory and critical care medicine 2020, PMID:31710517. 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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Idiopathic pulmonary fibrosis (rs41308092). MyGeneLog™. https://www.mygenelog.com/variants/rs41308092

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