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Rheumatology Advance Access originally published online on December 15, 2007
Rheumatology 2008 47(4):556-557; doi:10.1093/rheumatology/kem333
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© Published by Oxford University Press on behalf of the British Society for Rheumatology 2007.

Comment on: An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis

Y. Zhang, J. J. Pointon and B. P. Wordsworth

Oxford University Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK

Correspondence to: Y. Zhang. E-mail: yun{at}well.ox.ac.uk

SIR, We are interested to read the aforementioned article in your journal [1]. Allograft inflammatory factor 1 (AIF1) has now been studied in several diseases and its genomic sequence has been published widely. The authors claim to demonstrate a genetic association between a non-synonymous exonic substitution in AIF1 and systemic sclerosis. They suggest that this substitution is rs2269475 encoding a tryptophan to arginine substitution at amino acid residue 15, located in exon 4 of the AIF1 gene. However, we believe this is erroneous for two reasons. First, rs2269475 has previously been described as a non-coding SNP in intron 4. Second, it is very unlikely that amino acid 15 will be found in the 4th exon of any gene. In addition to this, the authors reported they looked into another SNP, rs4711274. This SNP is located in intron 1 of the gene not intron 2 as stated. The association study may still be valid but rs2269475 does not represent an important functional change in AIF1 as the authors claimed.

Disclosure statement: The authors have declared no conflicts of interest.


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  1. Alkassab F, Gourh P, Tan FK, et al. An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis. Rheumatology (2007) 46:1248–51.[Abstract/Free Full Text]
Accepted 14 November 2007


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