Elucidating the Chromosome 9 Association with AS; CARD9 is a Candidate Gene

@inproceedings{Pointon2010ElucidatingTC,
  title={Elucidating the Chromosome 9 Association with AS; CARD9 is a Candidate Gene},
  author={Jennifer J. Pointon and David J. Harvey and Tugce Karaderi and Louise H. Appleton and Claire Farrar and Millicent A. Stone and Roger D. Sturrock and Matthew A Brown and Bryan Paul Wordsworth},
  booktitle={Genes and Immunity},
  year={2010}
}
Ankylosing spondylitis (AS) is polygenic with contributions from the immunologically relevant genes HLA-B*27, ERAP1 and IL23R. A recent genome-wide association screen (GWAS) identified associations (P∼0.005) with the non-synonymous single-nucleotide polymorphisms (nsSNPs), rs4077515 and rs3812571, in caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) on chromosome 9q that had previously been linked to AS. We replicated these… CONTINUE READING
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