title: Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians.
abstract: OBJECTIVE
  To replicate the possible genetic association between ankylosing spondylitis (AS) and TNFRSF1A.
  
  
  METHODS
  TNFRSF1A was re-sequenced in 48 individuals with AS to identify novel polymorphisms. Nine single nucleotide polymorphisms (SNPs) in TNFRSF1A and 5 SNPs in the neighbouring gene SCNN1A were genotyped in 1604 UK Caucasian individuals with AS and 1019 matched controls. An extended study was implemented using additional genotype data on 8 of these SNPs from 1400 historical controls from the 1958 British Birth Cohort. A meta-analysis of previously published results was also undertaken.
  
  
  RESULTS
  One novel variant in intron 6 was identified but no new coding variants. No definite associations were seen in the initial study but in the extended study there were weak associations with rs4149576 (p=0.04) and rs4149577 (p=0.007). In the meta-analysis consistent, somewhat stronger associations were seen with rs4149577 (p=0.002) and rs4149578 (p=0.006).
  
  
  CONCLUSIONS
  These studies confirm the weak genetic associations between AS and TNFRSF1A. In view of the previously reported associations of TNFRSF1A with AS, in Caucasians and Chinese, and the biological plausibility of this candidate gene, replication of this finding in well powered studies is clearly indicated.
authors.affiliation: National Institute for Health Research Oxford Musculoskeletal Biomedical Research Unit, Botnar Research Centre, Oxford, UK.
authors.forename: T
authors.initials: T
authors.lastname: Karaderi
authors.forename: J J
authors.initials: JJ
authors.lastname: Pointon
authors.forename: T W H
authors.initials: TW
authors.lastname: Wordsworth
authors.forename: D
authors.initials: D
authors.lastname: Harvey
authors.forename: L H
authors.initials: LH
authors.lastname: Appleton
authors.forename: C J
authors.initials: CJ
authors.lastname: Cohen
authors.forename: C
authors.initials: C
authors.lastname: Farrar
authors.forename: A
authors.initials: A
authors.lastname: Harin
authors.forename: M A
authors.initials: MA
authors.lastname: Brown
authors.forename: B P
authors.initials: BP
authors.lastname: Wordsworth
mesh_terms: D016022:Case-Control Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D006113:United Kingdom; D044465:White People / Q000235:genetics*
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I