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Keloid

PHLDA3 · rs192314256

Where this position leads

Condition: Keloid

rs192314256 Condition: Keloid Keloid Condition rs192314256 rs192314256 PHLDA3

What the study found

Who was studied 812 Japanese ancestry cases, 211,641 Japanese ancestry controls.

The effect Each copy of the C allele carried 9.56 times the odds of Keloid (95% confidence interval 5.910913495-15.44947879); p = 3 × 10−20.

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

Where it sits Chromosome 1, band 1q32.1 — a missense change in PHLDA3.

What each result means

C/C Two copies of the version the research linked to Keloid. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Keloid. That is a smaller link than two copies.
T/T No copy of the version the research linked to Keloid. This is the starting point the study compared everyone against.
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 rs192314256

What is rs192314256?

rs192314256 is a single position in the genome, in or near the PHLDA3 gene. Published research associates it with keloid. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs192314256 linked to?

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

Does having rs192314256 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 rs192314256 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.

Keloid (rs192314256). MyGeneLog™. https://www.mygenelog.com/variants/rs192314256

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