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.
Dataset ID
Bjornsdottir2022_Back_Pain_EU