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Anti-sp100 seropositivity in primary biliary cholangitis

near HLA-DQB1 · rs1794280

Where this position leads

Condition: Primary Biliary Cholangitis

rs1794280 Condition: Primary Biliary Cholangitis Primary Biliary Cholangitis Condition rs1794280 rs1794280 near HLA-DQB1

What the study found

Who was studied 211 Han Chinese ancestry cases, 711 Han Chinese ancestry controls; replicated in 234 Han Chinese ancestry cases, 1,018 Han Chinese ancestry controls.

The effect Each copy of the T allele carried 3.89 times the odds of Anti-sp100 seropositivity in primary biliary cholangitis (95% confidence interval 3.05-4.96); p = 6 × 10−28.

How common The T allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — between genes, 6.7 kb from MTCO3P1.

What each result means

A/A No copy of the version the research linked to Anti-sp100 seropositivity in primary biliary cholangitis. This is the starting point the study compared everyone against.
A/T One copy of the version the research linked to Anti-sp100 seropositivity in primary biliary cholangitis. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Anti-sp100 seropositivity in primary biliary cholangitis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide Association Studies of Specific Antinuclear Autoantibody Subphenotypes in Primary Biliary Cholangitis
Wang C, Zheng X, Jiang P, Tang R, Gong Y, Dai Y, Wang L, Xu P, Sun W, Wang L, Han C, Jiang Y
and 39 more — show all
Wei Y, Zhang K, Wu J, Shao Y, Gao Y, Yu J, Hu Z, Zang Z, Zhao Y, Wu X, Dai N, Liu L, Nie J, Jiang B, Lin M, Li L, Li Y, Chen S, Shu L, Qiu F, Wu Q, Zhang M, Chen R, Jawed R, Zhang Y, Shi X, Zhu Z, Pei H, Huang L, Zhao W, Tian Y, Zhu X, Qiu H, Gershwin ME, Chen W, Seldin MF, Liu X, Sun L, Ma X
Hepatology (Baltimore, Md.) · 2019 · PMID 30854688 · open access

Questions about rs1794280

What is rs1794280?

rs1794280 is a single position in the genome, in or near the near HLA-DQB1 gene. Published research associates it with anti-sp100 seropositivity in 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 rs1794280 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.

Does having rs1794280 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 rs1794280 come from?

GWAS Catalog, Hepatology 2019, PMID:30854688. 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.

Anti-sp100 seropositivity in primary biliary cholangitis (rs1794280). MyGeneLog™. https://www.mygenelog.com/variants/rs1794280

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