Summary statistics are available for download from the GWAS Catalog.
Publication
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G, Stefansdottir L, Thorleifsson G, et al.
Nature Communications. 2022 Feb 2;13(1):634. doi: 10.1038/s41467-022-28167-1.
PMID: 35110524
Phenotypes
- Intervertebral disc disorder (IDD)
- Dorsalgia / back pain
Experiment summary
This genome-wide association study of back pain phenotypes (dorsalgia and IDD) was conducted in up to 1028947 participants of European ancestry. The study identified 41 variants at 33 loci, including a 3′UTR signal in CHST3, and showed that rare loss-of-function variants in SLC13A1 (a sodium–sulfate co-transporter) increase IDD risk and are linked to reduced serum sulfate, implicating sulfate biology in disc pathology.