Rheumatology Advance Access originally published online on May 23, 2007
Rheumatology 2007 46(8):1248-1251; doi:10.1093/rheumatology/kem057
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An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis
Division of Rheumatology and Clinical Immunogenetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTH), Houston, 1Division of Rheumatology, Department of Internal Medicine, University of Texas Medical Branch (UTMB), Galveston and 2Division of Rheumatology, University of Texas at San Antonio Health Sciences Center (UT-SA), San Antonio, TX, USA.
Correspondence to: Firas Alkassab, Division of Rheumatology, University of Texas Medical Sxhool at Houston, 6431 Fannin St, MSB 5.270, Houston, TX, 77030, USA. E-mail: firas.alkassab{at}uth.tmc.edu
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Abstract |
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Objective. To identify genetic associations between allograft inflammatory factor 1 (AIF1) and systemic sclerosis (SSc), or its subsets, using a single nucleotide polymorphism (SNP) in a replicate case-control study.
Methods. The frequencies of alleles and genotypes of an SNP, rs2269475, for the AIF1 gene were examined in two large independent cohorts of SSc patients (n = 1015 total), and compared with two groups of normal controls (n = 893 total). Both cases and controls were stratified by ethnicity (Caucasian, African American and Hispanic) and by autoantibody status [anti-centromere antibodies (ACA) and anti-topoisomerase I antibody (ATA)].
Results. The minor T allele and CT/TT genotype frequencies of the AIF1 SNP were not observed more frequently in SSc patients of the three ethnic groups (individually or combined) when compared with controls. On the other hand, T and CT/TT frequencies were significantly increased in ACA-positive Caucasian SSc patients, and all ACA-positive SSc patients (the three ethnic groups combined), when compared with ACA-negative SSc patients and with normal controls, with odds ratios of 
1.5.
Conclusion. The data demonstrate a genetic association between AIF1 and the ACA-positive subset of SSc. This polymorphism is a non-synonymous substitution and therefore likely to represent an important functional change in AIF1. Since vascular pathology is a prominent feature in ACA-positive SSc patients, the observed association with a vasculotrophic inflammatory gene is biologically plausible and warrants further research.
KEY WORDS: Allograft inflammatory factor 1, AIF1, Systemic sclerosis, Scleroderma, Genetics, Anticentromere antibodies, Autoantibodies
Submitted 9 November 2006;
revised version accepted 8 February 2007.
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  Y. Zhang, J. J. Pointon, and B. P. Wordsworth Comment on: An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis Rheumatology, April 1, 2008; 47(4): 556 - 557. [Full Text] [PDF]
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