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Primary biliary cholangitis

HLA-DPB1 · rs9501251

Where this position leads

What the study found

Who was studied 1,122 Han Chinese ancestry cases, 4,036 Han Chinese ancestry controls; replicated in 907 Han Chinese ancestry cases, 2,127 Han Chinese ancestry controls.

The effect Each copy of the G allele carried 2.01 times the odds of Primary biliary cholangitis (95% confidence interval 1.76-2.32); p = 2 × 10⁻²².

How common The G allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — in an intron of HLA-DPB1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Primary biliary cholangitis — no copies of the reported risk allele.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Primary biliary cholangitis.

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Primary biliary cholangitis compared to the general population.

Source

A genome-wide association study identifies six novel risk loci for primary biliary cholangitis

Qiu F, Tang R, Zuo X, Shi X, Wei Y, Zheng X, Dai Y, Gong Y, Wang L, Xu P, Zhu X, Wu J

and 78 more — show all

Han C, Gao Y, Zhang K, Jiang Y, Zhou J, Shao Y, Hu Z, Tian Y, Zhang H, Dai N, Liu L, Wu X, Zhao W, Zhang X, Zang Z, Nie J, Sun W, Zhao Y, Mao Y, Jiang P, Ji H, Dong Q, Li J, Li Z, Bai X, Li L, Lin M, Dong M, Li J, Zhu P, Wang C, Zhang Y, Jiang P, Wang Y, Jawed R, Xu J, Zhang Y, Wang Q, Yang Y, Yang F, Lian M, Jiang X, Xiao X, Li Y, Fang J, Qiu D, Zhu Z, Qiu H, Zhang J, Tian W, Chen S, Jiang L, Ji B, Li P, Chen G, Wu T, Sun Y, Yu J, Tang H, He M, Xia M, Pei H, Huang L, Qing Z, Wu J, Huang Q, Han J, Xie W, Sun Z, Guo J, He G, Eric Gershwin M, Lian Z, Liu X, Seldin MF, Liu X, Chen W, Ma X

Nature communications · 2017 · PMID 28425483 · open access

Questions about rs9501251

What is rs9501251?

rs9501251 is a single position in the genome, in or near the HLA-DPB1 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 rs9501251 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 rs9501251 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 rs9501251 come from?

GWAS Catalog, Nat Commun 2017, PMID:28425483. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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