Gene Knowledge Graph
UTC
Sensitive

Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)

ATP8B2 · rs72698115

Where this position leads

Condition: Juvenile Idiopathic Arthritis

rs72698115 Condition: Juvenile Idiopathic Arthritis Juvenile Idiopathic Arthritis Condition rs72698115 rs72698115 ATP8B2

What the study found

Who was studied 2,816 European ancestry cases, 13,056 European ancestry controls.

The effect Each copy of the C allele carried 1.36 times the odds of Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) (95% confidence interval 1.22-1.52); p = 1 × 10−8.

How common The C allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 1, band 1q21.3 — in an intron of IL6R.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) — no copies of the reported risk allele.
A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular).
C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) compared to the general population.
Source
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
Hinks A, Cobb J, Marion MC, Prahalad S, Sudman M, Bowes J, Martin P, Comeau ME, Sajuthi S, Andrews R, Brown M, Chen WM
and 27 more — show all
Concannon P, Deloukas P, Edkins S, Eyre S, Gaffney PM, Guthery SL, Guthridge JM, Hunt SE, James JA, Keddache M, Moser KL, Nigrovic PA, Onengut-Gumuscu S, Onslow ML, Rosé CD, Rich SS, Steel KJ, Wakeland EK, Wallace CA, Wedderburn LR, Woo P, Bohnsack JF, Haas JP, Glass DN, Langefeld CD, Thomson W, Thompson SD
Boston Children's JIA Registry · British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group · Childhood Arthritis Prospective Study (CAPS) · Childhood Arthritis Response to Medication Study (CHARMS) · German Society for Pediatric Rheumatology (GKJR) · JIA Gene Expression Study · NIAMS JIA Genetic Registry · TREAT Study · United Kingdom Juvenile Idiopathic Arthritis Genetics Consortium (UKJIAGC)
Nature genetics · 2013 · PMID 23603761 · open access

Questions about rs72698115

What is rs72698115?

rs72698115 is a single position in the genome, in or near the ATP8B2 gene. Published research associates it with juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs72698115 linked to?

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

Does having rs72698115 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 rs72698115 come from?

GWAS Catalog, Nat Genet 2013, PMID:23603761. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

← See all variants