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

Firas Alkassab, P. Gourh, F. K. Tan, T. McNearney, M. Fischbach, C. Ahn, F. C. Arnett, M. D. Mayes

Research output: Contribution to journalArticle

34 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1248-1251
Number of pages4
JournalRheumatology
Volume46
Issue number8
DOIs
StatePublished - Aug 1 2007

Keywords

  • AIF1
  • Allograft inflammatory factor 1
  • Anticentromere antibodies
  • Autoantibodies
  • Genetics
  • Scleroderma
  • Systemic sclerosis

ASJC Scopus subject areas

  • Rheumatology
  • Pharmacology (medical)

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