rs835487
This is a intron variant variant in the CHST11 gene.
▶Research that mentions this SNP (1)
▶Genome‐Wide Association Study of Radiographic Knee Osteoarthritis in North American CaucasiansAssociationN=7,066Yau MS et al.(2017)· Arthritis & Rheumatology
This genome-wide association study (GWAS) of radiographic tibiofemoral knee osteoarthritis in 3,898 cases and 3,168 controls from four North American cohorts identified one novel locus near LSP1P3 (rs4867568, OR=0.84, P=3.02×10⁻⁶) and confirmed associations with previously reported loci GDF5 (rs143383, OR=1.12, P=2.13×10⁻³) and FTO (rs8044769, OR=1.10, P=6.13×10⁻³). Despite the large sample size and standardized radiographic phenotyping, no variants achieved genome-wide significance, highlighting the polygenic nature of knee OA.
About CHST11
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
View all CHST11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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