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http://purl.uniprot.org/citations/37258043http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/37258043http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Major histocompatibility complex strongly contributes to susceptibility to systemic lupus erythematosus (SLE). In the European populations, HLA-DRB1*03:01 and DRB1*15:01 are susceptibility alleles, but C4 locus was reported to account for the association of DRB1*03:01. With respect to DRB1*15:01, strong linkage disequilibrium with a variant rs2105898T in the XL9 region, located between DRB1 and DQA1 and regulates HLA-class II expression levels, was reported; however, the causative allele remains to be determined. Leveraging the genetic background of the Japanese population, where DRB1*15:01 and DRB1*15:02 are commonly present and only DRB1*15:01 is associated with SLE, this study aimed to distinguish the genetic contribution of DRB1*15:01 and XL9 variants.

Methods

Among the XL9 variants, two (rs2105898 and rs9271593) previously associated variants in the European populations and two (rs9271375 and rs9271378) which showed a trend towards association in a Japanese Genome-Wide Association Study were selected. Associations of the XL9 variants and HLA-DRB1 were examined in 442 Japanese SLE patients and 779 controls. Genotyping of the XL9 variants was performed by TaqMan SNP Genotyping Assay and direct sequencing. HLA-DRB1 alleles were determined by PCR-reverse sequence-specific oligonucleotide probes.

Results

Among the XL9 variants, associations of rs2105898T and rs9271593C were replicated in the Japanese population. However, these associations became no longer significant when conditioned on DRB1*15:01. In contrast, the association of DRB1*15:01 remained significant after conditioning on the XL9 variants.

Conclusion

In the Japanese population, HLA-DRB1*15:01 was found to be primarily associated with SLE, and to account for the apparent association of XL9 region."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.org/dc/terms/identifier"doi:10.1136/rmdopen-2023-003214"xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Itoh K."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Amano H."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kondo Y."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kawamura Y."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Hashimoto H."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Tamura N."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Sumida T."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Fujimoto T."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Matsumoto I."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kusanagi Y."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Tsuchiya N."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kawasaki A."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kusaoi M."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/author"Kusumawati P.A."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/date"2023"xsd:gYear
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/name"RMD Open"xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/pages"e003214"xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/title"Genetic dissection of HLA-DRB1*15:01 and XL9 region variants in Japanese patients with systemic lupus erythematosus: primary role for HLA-DRB1*15:01."xsd:string
http://purl.uniprot.org/citations/37258043http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/37258043http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/37258043
http://purl.uniprot.org/citations/37258043http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/37258043
http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-37258043http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/37258043
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