A common functional variant of endoplasmic reticulum aminopeptidase 2 (ERAP2) that reduces major histocompatibility complex class I expression is not associated with ankylosing spondylitis

Rheumatology

Volumn 50, Issue 9, 2011, Pages 1720-1721

  Harvey, David ^a   Pointon, Jennifer J ^a,b   Karaderi, Tugce ^a   Appleton, Louise H ^a   Farrar, Claire ^a   Paul Wordsworth, B ^a,b  

^a Oxford Musculoskeletal Biomedical Research Unit and Botnar Research Centre ^*  (United Kingdom)

^b NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1;

ANKYLOSING SPONDYLITIS; ENDOPLASMIC RETICULUM ENDOPEPTIDASE 2 GENE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HLA SYSTEM; HUMAN; LETTER; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINOPEPTIDASES; CASE-CONTROL STUDIES; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; SPONDYLITIS, ANKYLOSING;

EID: 80051949544     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/ker199     Document Type: Letter

References (5)

1. Harvey D, Pointon J, Evans D et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18: 4204-12.
2. Saveanu L, Carroll O, Lindo V et al. Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum. Nat Immunol 2005;6:689-97.
3. Franke A, McGovern DP, Barrett JC et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010;42:1118-25.
4. André s A, Dennis M, Kretzschmar W et al. Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet 2010;6: e1001157.
5. Tsui F, Haroon N, Reveille J et al. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Ann Rheum Dis 2010;69: 733-6.