rs2075800
This is a variant in the HSPA1L gene that changes a glutamate to an lysine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genome‐wide association study of rheumatoid arthritis in Koreans: Population‐specific loci as well as overlap with European susceptibility lociAssociationN=2,002Jan Freudenberg et al.(2011)· Arthritis & Rheumatism
This study applied Bayesian epistasis association mapping (BEAM/BEAM2) methods to genome-wide association studies data from the Welcome Trust Case Control Consortium (WTCCC) to identify high-order SNP interactions in rheumatoid arthritis. The analysis identified 319 high-order epistatic interactions across the genome, with many validated using data from the North American Rheumatoid Arthritis Consortium (NARAC). Key findings include inter-chromosomal interactions primarily on chromosomes 1, 3, 6, and 9, with enriched GO terms implicating synapse, calcium ion binding, and membrane pathways.
About HSPA1L
This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
View all HSPA1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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