Gene Knowledge Graph
UTC
Standard

CHIT1 protein levels

CHIT1 · rs531445439

Where this position leads

Condition: Celiac Disease

rs531445439 Condition: Celiac Disease Celiac Disease Condition rs531445439 rs531445439 CHIT1

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.662 lower (95% confidence interval 0.55-0.77); p = 8 × 10−39.

How common The G allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 1, band 1q32.1 — inside CHIT1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of CHIT1 protein levels — 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 CHIT1 protein levels.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of CHIT1 protein levels compared to the general population.
Source
A scalable variational inference approach for increased mixed-model association power
Loya H, Kalantzis G, Cooper F, Palamara PF
Nature genetics · 2025 · PMID 39789286 · open access

Questions about rs531445439

What is rs531445439?

rs531445439 is a single position in the genome, in or near the CHIT1 gene. Published research associates it with chit1 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs531445439 linked to?

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

Does having rs531445439 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 rs531445439 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. 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.

CHIT1 protein levels (rs531445439). MyGeneLog™. https://www.mygenelog.com/variants/rs531445439

← See all variants