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http://purl.uniprot.org/citations/21622776http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21622776http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Recent genome-wide association studies suggested the PRDM1-ATG5 gene region as a systemic lupus erythematosus (SLE)-associated locus both in Caucasian and Chinese populations; however, the candidate gene was still obscure and the possible functional significance needed to be determined.

Methods

In this study, by a multistage integrative strategy, the authors first performed a case-control association study involving 1745 individuals in the Chinese population by genotyping nine single nucleotide polymorphisms within this region, and a meta-analysis was conducted. Correlation between associated genotypes and expression levels of messenger RNA in B-cell lines from 210 unrelated HapMap data was examined, and was validated in vitro. To determine the biological significance, a genetic association study was also checked in a pathway-based manner and the significant associations were validated in a second 844 Chinese cohort.

Results

A peak of association was found in the intergenic region (p=0.036-3.26×10(-4)). Meta-analysis consolidated the association between rs548234 and SLE (OR 1.254, p=1.28×10(-16)). Significant positive correlations with ATG5 expression were identified, suggesting ATG5 as a candidate gene in the region. Epstein-Barr virus B-cell-based downstream gene expression analysis supported a functional effect of rs548234 and rs6937876, and in-vitro experiments confirmed the regulatory effect of rs6937876 in B-cell populations. Finally, an autophagy pathway-based genetic association study identified ATG7 (p=1.12×10(-4)) and IRGM (p=0.015) as novel candidate genes, and gene-gene interactions were observed between ATG5, ATG7 and IRGM.

Conclusion

These data may demonstrate that autophagy is involved in the pathogenesis of SLE and imply a common biological pathway in autoimmunity."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.org/dc/terms/identifier"doi:10.1136/ard.2010.140111"xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Su Y."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Zhang H."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Zhou X.J."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Zhao M.H."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Qin L.X."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Li Z.G."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Lu X.L."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Yang H.Z."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/author"Lv J.C."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/name"Ann Rheum Dis"xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/pages"1330-1337"xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/title"Genetic association of PRDM1-ATG5 intergenic region and autophagy with systemic lupus erythematosus in a Chinese population."xsd:string
http://purl.uniprot.org/citations/21622776http://purl.uniprot.org/core/volume"70"xsd:string
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