rs6531

This variant is located in the RXRB gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; RXRB-related disorder

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Research that mentions this SNP (1)

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Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis
AssociationN=3,293Xie G. et al.(2013)· Arthritis & Rheumatism

This genome-wide association study identified genetic determinants of granulomatosis with polyangiitis (GPA/Wegener's) in 987 cases and 2,731 controls. HLA-DPB1*04 and HLA-DPA1 variants accounted for 32 significant SNP associations in the HLA region, with peak signals at rs9277554 (HLA-DPB1) and rs9277341 (HLA-DPA1). An independent association was found at rs26595 near SEMA6A on chromosome 5, confirming the critical role of immunogenetic factors in GPA susceptibility.

Traits studied:ANCA-associated vasculitisEosinophilic granulomatosis with polyangiitisGranulomatosis with Polyangiitis (GPA)Microscopic polyangiitisWegener's granulomatosis
PubMedDOIMetascience Observatory

About RXRB

This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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