Spondylitis

Summary

Spondylitis (MONDO:0003937) is a disease with 5 GWAS associations across 8 studies and 18 clinical trials. Top therapeutic interventions include infliximab. A subtype of inflammatory disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 5
• Clinical trials: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spondylitis
Mondo ID	MONDO:0003937
MeSH	D013166
DOID	DOID:6590
NCIT	C116779
SNOMED CT	84172003
UMLS	C0038012
MedGen	11560
Is cancer (heuristic)	no

Also known as: inflammation of vertebra · vertebra inflammation

Data availability: 5 GWAS associations (8 studies).

Disease family

This is a subtype of inflammatory disease. 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 developmental or physiological process › inflammatory disease › spondylitis

Related subtypes (93): chorioamnionitis, pyometritis, uvulitis, mastoiditis, pelvic inflammatory disease, tonsillitis, nasopharyngitis, petrositis, nephritis, esophagitis, geniculate ganglionitis, epicondylitis, labyrinthitis, lymphadenitis, cheilitis, neuritis, vaginitis, hepatitis, pharyngitis, hidradenitis, gastroenteritis, dermatitis, bursitis, laryngitis, keratitis, endocervicitis, conjunctivitis, thyroiditis, diverticulitis, neuronitis, mediastinitis, epididymitis, blepharitis, cholangitis, dacryoadenitis, fasciitis, chronic inflammation of lacrimal passage, dacryocystitis, periostitis, gastritis, pancreatitis, periodontitis, encephalomyelitis, placental villitis, prostatitis, urethritis, otitis media, perianal Crohn disease, proctitis, arthritic joint disease, oral tuberculosis, parotitis, pericarditis, sinusitis, cystitis, panniculitis, balanitis, chronic inflammatory demyelinating polyradiculoneuropathy, glossitis, mastitis, oophoritis, orchitis, perinephritis, pulpitis, rheumatic heart disease, vulvitis, thromboangiitis obliterans, STING-associated vasculopathy with onset in infancy, endophthalmitis, chronic granulomatous disease, IgG4-related pachymeningitis, vasculitis, chronic pneumonitis of infancy, uveitis, mucositis, amnionitis, diaphragmitis, gonococcal cervicitis, posthitis, myositis disease, omphalitis, ear infection, radiculitis, tracheobronchitis, ureteritis, enthesitis, inflammation of heart layer, serositis, pneumonitis, immune reconstitution inflammatory syndrome, multiple evanescent white dot syndrome, isolated anogenital granulomatosis, myelin oligodendrocyte glycoprotein antibody-associated disease

Subtypes (3): inflammatory spondylopathy, gonococcal spondylitis, ankylosing spondylitis

Genetics & variants

GWAS landscape

5 GWAS associations across 8 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr15:67073664	3e-10		C	0.07
chr20:2800795	2e-08		T	0.06
chr1:198835184	4e-08		G	0.09
chr11:78699780	4e-08		A	2.76
chr2:213621584	4e-08		T	2.53

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90474072	UK Biobank Whole-Genome Sequencing Consortium	2025	16,586	441,854	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667962	UK Biobank Whole-Genome Sequencing Consortium	2025	16,586	441,854	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90077781	Backman JD	2021	4,039	327,715	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081767	Backman JD	2021	4,039	327,715	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077782	Backman JD	2021	3,855	325,197	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081768	Backman JD	2021	3,855	325,197	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90474073	UK Biobank Whole-Genome Sequencing Consortium	2025	336	9,277	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90474071	UK Biobank Whole-Genome Sequencing Consortium	2025	315	8,900	Whole-genome sequencing of 490,640 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	5

Functional consequences

Consequence	Count
unknown	5

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr15:67073664							3e-10	Tier 4: intronic/intergenic
chr20:2800795							2e-08	Tier 4: intronic/intergenic
chr1:198835184							4e-08	Tier 4: intronic/intergenic
chr11:78699780							4e-08	Tier 4: intronic/intergenic
chr2:213621584							4e-08	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

Drugs indicated for this disease

9 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Celecoxib	Approved (phase 4)
Etanercept	Approved (phase 4)
Golimumab	Approved (phase 4)
Hydrocortisone	Approved (phase 4)
Indomethacin	Approved (phase 4)
Naproxen	Approved (phase 4)
Penicillamine	Approved (phase 4)
Prednisone	Approved (phase 4)
Sulindac	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	13
PHASE2/PHASE3	2
PHASE2	2
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00936143	PHASE4	COMPLETED	Efficacy and Safety Study of Infliximab (Remicade) to Treat Early Ankylosing Spondylitis
NCT02809781	PHASE2/PHASE3	UNKNOWN	A Pilot Study of MSCs Iufusion and Etanercept to Treat Ankylosing Spondylitis
NCT05376189	PHASE2/PHASE3	UNKNOWN	Oral Vitamin D and Toll Like Receptor in Spondylitis Tuberculosis
NCT06451588	PHASE2	RECRUITING	Fecal Microbiota Transplantation in Axial Spondyloarthritis
NCT04062695	PHASE2	UNKNOWN	Tofacitinib for Reduction of Spinal Inflammation in Patients With Psoriatic ArthritiS PresenTing With Axial InvOlvement
NCT05110833	Not specified	ENROLLING_BY_INVITATION	Dose Responsiveness as a Measure of Clinical Effectiveness During Neuromonitored Spine Surgery
NCT05610098	Not specified	RECRUITING	Gene Expression Profiles in Spinal Tuberculosis.
NCT06460805	Not specified	RECRUITING	axSEND: Exploring Immune and Microbiota Effects of a Partial Enteral Nutrition Diet in Axial Spondyloarthritis
NCT00081562	Not specified	COMPLETED	Genetics of Ankylosing Spondylitis
NCT00320619	Not specified	COMPLETED	Epsilon-Aminocaproaic Acid to Reduce the Need for Blood Transfusions During and Following Spine Surgery
NCT01642706	Not specified	UNKNOWN	Regulatory B Cells in Inflammatory Rheumatisms and Biomarkers of Response to Biologic Treatments
NCT02873182	Not specified	UNKNOWN	Protection of Autonomic Nervous System During Lower Spine Surgical Procedures: A Safety and Feasibility Study
NCT03064802	Not specified	UNKNOWN	Burst Biologics Spinal Fusion Registry
NCT03793660	Not specified	COMPLETED	Biologic National Registry
NCT05098431	Not specified	WITHDRAWN	Comparison of Three Approaches of Electrode Placement to Detect Changes in Motor Evoked Potentials During Spine Surgery
NCT06072287	Not specified	UNKNOWN	The Living With a Long-Term Condition Study
NCT07023393	Not specified	WITHDRAWN	Proprio Spine Measurement Tool
NCT07349602	Not specified	COMPLETED	Evaluation of Outcomes of Surgical Treatment for Nonspecific Infectious Spondylodiscitis Via Posterior Approach in One Center.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
INFLIXIMAB	4	1