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Chronic obstructive pulmonary disease

COQ8B · rs2288450

Where this position leads

Condition: Chronic Obstructive Pulmonary Disease (COPD)

rs2288450 Condition: Chronic Obstructive Pulmonary Disease (COPD) Chronic Obstructive Pulmonary Disea… Condition rs2288450 rs2288450 COQ8B

What the study found

Who was studied 3,315 Japanese ancestry cases, 201,592 Japanese ancestry controls.

The effect Each copy of the T allele carried 0.79 times the odds of Chronic obstructive pulmonary disease (95% confidence interval 0.739902567869349-0.85026990042415); p = 6 × 10−11.

Where it sits Chromosome 19, band 19q13.2 — in an intron of COQ8B.

What each result means

C/C No copy of the version the research linked to Chronic obstructive pulmonary disease. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Chronic obstructive pulmonary disease. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Chronic obstructive pulmonary disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T
and 77 more — show all
Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y
Nature genetics · 2020 · PMID 32514122

Questions about rs2288450

What is rs2288450?

rs2288450 is a single position in the genome, in or near the COQ8B gene. Published research associates it with chronic obstructive pulmonary 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 rs2288450 linked to?

On MyGeneLog this position is linked to Chronic Obstructive Pulmonary Disease (COPD). The research behind each link, and its sources, are set out on that condition page.

Does having rs2288450 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 rs2288450 come from?

GWAS Catalog, Nature genetics 2020, PMID:32514122. 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.

Chronic obstructive pulmonary disease (rs2288450). MyGeneLog™. https://www.mygenelog.com/variants/rs2288450

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