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Primary biliary cholangitis

POU2AF1 · rs4938534

Where this position leads

Condition: Primary Biliary Cholangitis

rs4938534 Condition: Primary Biliary Cholangitis Primary Biliary Cholangitis Condition rs4938534 rs4938534 POU2AF1

What the study found

Who was studied 487 Japanese ancestry cases, 476 Japanese ancestry controls; replicated in 787 Japanese ancestry cases, 615 Japanese ancestry controls.

The effect Each copy of the A allele carried 1.39 times the odds of Primary biliary cholangitis (95% confidence interval 1.24-1.56); p = 2 × 10−8.

How common The A allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 11, band 11q23.1 — inside BTG4.

What each result means

A/A Two copies of the version the research linked to Primary biliary cholangitis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Primary biliary cholangitis. That is a smaller link than two copies.
G/G No copy of the version the research linked to Primary biliary cholangitis. This is the starting point the study compared everyone against.
Source
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population
Nakamura M, Nishida N, Kawashima M, Aiba Y, Tanaka A, Yasunami M, Nakamura H, Komori A, Nakamuta M, Zeniya M, Hashimoto E, Ohira H
and 68 more — show all
Yamamoto K, Onji M, Kaneko S, Honda M, Yamagiwa S, Nakao K, Ichida T, Takikawa H, Seike M, Umemura T, Ueno Y, Sakisaka S, Kikuchi K, Ebinuma H, Yamashiki N, Tamura S, Sugawara Y, Mori A, Yagi S, Shirabe K, Taketomi A, Arai K, Monoe K, Ichikawa T, Taniai M, Miyake Y, Kumagi T, Abe M, Yoshizawa K, Joshita S, Shimoda S, Honda K, Takahashi H, Hirano K, Takeyama Y, Harada K, Migita K, Ito M, Yatsuhashi H, Fukushima N, Ota H, Komatsu T, Saoshiro T, Ishida J, Kouno H, Kouno H, Yagura M, Kobayashi M, Muro T, Masaki N, Hirata K, Watanabe Y, Nakamura Y, Shimada M, Hirashima N, Komeda T, Sugi K, Koga M, Ario K, Takesaki E, Maehara Y, Uemoto S, Kokudo N, Tsubouchi H, Mizokami M, Nakanuma Y, Tokunaga K, Ishibashi H
American journal of human genetics · 2012 · PMID 23000144

What people read about alongside this

Liver2

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs4938534

What is rs4938534?

rs4938534 is a single position in the genome, in or near the POU2AF1 gene. Published research associates it with primary biliary cholangitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4938534 linked to?

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

What do people read about alongside rs4938534?

Subjects that appear in the title or abstract of the same papers as this rsID include liver (2 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs4938534 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 rs4938534 come from?

GWAS Catalog, Am J Hum Genet 2012, PMID:23000144. 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.

Primary biliary cholangitis (rs4938534). MyGeneLog™. https://www.mygenelog.com/variants/rs4938534

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