Osteoarthritis, spine

Summary

Osteoarthritis, spine (MONDO:0006630) is a disease with 9 GWAS associations across 6 studies and 4 clinical trials. A subtype of osteoarthritis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 9
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	osteoarthritis, spine
Mondo ID	MONDO:0006630
EFO	EFO:1000787
MeSH	D055013
SNOMED CT	8847002
UMLS	C2350242
MedGen	389941
Is cancer (heuristic)	no

Data availability: 9 GWAS associations (6 studies).

Disease family

This is a subtype of osteoarthritis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone inflammation disease › arthritic joint disease › osteoarthritis › osteoarthritis, spine

Related subtypes (4): osteoarthritis, knee, osteoarthritis, hip, osteoarthritis, toe, osteoarthritis, hand

Genetics & variants

GWAS landscape

9 GWAS associations across 6 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2681781	2e-49	CAMKV	A
rs10846921	2e-28	CLIP1 - ZCCHC8	A
rs247975	1e-24	SPATA16 - NLGN1	T
rs12308843	3e-17	SOX5	C	1.06
rs6441814	3e-15	ABHD5 - RNU6-367P	A
rs2640909	2e-10	PER3	T
rs7163797	2e-10	SMAD3	A	0.96
rs117943325	1e-09	CRLF1, UBA52	A	0.94
rs1513953	4e-09	ECM1P2 - U6	T	0.96

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90061029	Boer CG	2021	305,578	333,950	Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90566801	Hatzikotoulas K	2025	68,970	733,825	Translational genomics of osteoarthritis in 1,962,069 individuals.
GCST90271772	Zhang L	2023	28,372	305,578	A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.
GCST90034530	Boer CG	2021	27,557	301,266	Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90566812	Hatzikotoulas K	2025	0	0	Translational genomics of osteoarthritis in 1,962,069 individuals.
GCST90061040	Boer CG	2021	0	0	Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	8

MAF distribution

Bucket	Variants
common (>=0.05)	9
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	6
synonymous_variant	1
intergenic_variant	1
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2681781	3	49860840	A>G	0.05	synonymous_variant	CAMKV	2e-49	Tier 4: intronic/intergenic
rs10846921	12	122458829	A>C	0.05	intergenic_variant	CLIP1 - ZCCHC8	2e-28	Tier 4: intronic/intergenic
rs247975	3	173389653	T>C	0.05	intron_variant	SPATA16 - NLGN1	1e-24	Tier 4: intronic/intergenic
rs12308843	12	23821470	G>C	0.24	intron_variant	SOX5	3e-17	Tier 4: intronic/intergenic
rs6441814	3	44007622	G>A,T	0.05	intron_variant	ABHD5 - RNU6-367P	3e-15	Tier 4: intronic/intergenic
rs2640909	1	7830057	T>C	0.05	missense_variant	PER3	2e-10	Tier 1: coding
rs7163797	15	67072574	C>A	0.47	intron_variant	SMAD3	2e-10	Tier 4: intronic/intergenic
rs117943325	19	18572535	A>G	0.1	intron_variant	CRLF1, UBA52	1e-09	Tier 4: intronic/intergenic
rs1513953	4	12894480	C>A,T	0.248	intron_variant	ECM1P2 - U6	4e-09	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04841512	PHASE1/PHASE2	WITHDRAWN	Preliminary Safety and Efficacy of XT-150 in Facet Joint Osteoarthritis
NCT03076658	Not specified	RECRUITING	Open Access Database of Standing Full Body Radiographs in Asymptomatic Volunteers
NCT04137835	Not specified	RECRUITING	Non-invasive Evaluation of Upper and Lower Body Function With Showmotion
NCT05852808	Not specified	TERMINATED	Evaluation of Pain Level Reduction After Low-dose Radiation in Symptomatic Facet Joint Arthritis