Inflammatory spondylopathy

Summary

Inflammatory spondylopathy (MONDO:0001434) is a disease with 6 GWAS associations across 13 studies. A subtype of spondylitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory spondylopathy
Mondo ID	MONDO:0001434
DOID	DOID:12105
SNOMED CT	202649003
UMLS	C0949690
MedGen	215416
Is cancer (heuristic)	no

Also known as: inflammatory spondylopathies in disease classified elsewhere · inflammatory spondylopathy in disease classified elsewhere

Data availability: 6 GWAS associations (13 studies).

Disease family

This is a subtype of spondylitis. 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 › inflammatory spondylopathy

Related subtypes (2): gonococcal spondylitis, ankylosing spondylitis

Genetics & variants

GWAS landscape

6 GWAS associations across 13 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs709055	1e-323	HLA-B	C	1.02
rs9265976	1e-320	LINC02571 - HLA-B	?
rs146683910	1e-32	HLA-B - RNU6-283P	?	2.97
rs184325075	1e-19	LINC01623 - ZNF90P2	T	1.05
chr6:28092071	2e-14		A	0.84
rs188048008	1e-11	CARMIL1 - SCGN	C	0.6

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476231	Verma A	2024	7,622	436,029	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90474066	UK Biobank Whole-Genome Sequencing Consortium	2025	4,922	453,518	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080477	Backman JD	2021	1,991	384,956	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084463	Backman JD	2021	1,991	384,956	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478872	Verma A	2024	1,961	117,583	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480503	Verma A	2024	1,961	117,583	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651117	Liu TY	2025	1,870	216,888	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436652	Zhou W	2018	1,671	365,085	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90080476	Backman JD	2021	1,437	386,493	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084462	Backman JD	2021	1,437	386,493	Exome sequencing and analysis of 454,787 UK Biobank participants.

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	5

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	1
rare (<0.01)	3
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	2
missense_variant	1
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs709055	6	31356374	C>A,G,T	0.039	missense_variant	HLA-B	1e-323	Tier 1: coding
rs9265976	6	31348156	A>C,G	0.05	intron_variant	LINC02571 - HLA-B	1e-320	Tier 4: intronic/intergenic
rs146683910	6	31368220	C>T	0.05	intron_variant	HLA-B - RNU6-283P	1e-32	Tier 4: intronic/intergenic
rs184325075	6	28869975	T>C	0.002	intergenic_variant	LINC01623 - ZNF90P2	1e-19	Tier 4: intronic/intergenic
chr6:28092071				0.004			2e-14	Tier 4: intronic/intergenic
rs188048008	6	25625357	C>A,T	0.004	intergenic_variant	CARMIL1 - SCGN	1e-11	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: 0.