Genetic variant
rs1143634 a variant in the IL1B gene
rs1143634 is a single-letter difference in the IL1B gene, on chromosome 2. ClinVar, the public archive of variant interpretations, lists it as benign: not known to cause disease. It has been reported in connection with Antisynthetase syndrome and Endometriosis, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1143634 is the catalogue number of one of them, in the IL1B gene. Which letters you carry there — one copy from each parent — is your genotype.
IL1B (interleukin 1 beta): The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis.
Gene description from NCBI Gene
rs1143634, also known as 3954, is a SNP in the IL-1 beta IL1B gene. A study of 556 adults in the We...
From SNPedia
Why might it matter?
ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Antisynthetase syndrome
- Endometriosis
- Cholangiocarcinoma
- IL1B-related disorder
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1143634, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs1143634
- Gene
- IL1B
- Position (GRCh38)
- chr2:112832812
- Variant type
- snv
- Consequence
- synonymous variant
- ClinVar classification
- Benign; Affects; association; other
Genome-wide association studies (1)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| High IL-1beta levels in gingival crevicular fluid | — | OR 0.42 | 1E-11 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 22.1%
- 1kG AFR
- 12.3%
- 1kG ALL
- 13.3%
- 1kG AMR
- 12.5%
- 1kG EAS
- 2.3%
- 1kG EUR
- 75.2%
- 1kG SAS
- 85.3%
Sources
- dbSNP: rs1143634 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: IL1B
- Ensembl: IL1B
- GWAS Catalog — association studies