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Association of hypoxia-inducible factor 1A ( HIF1A ) gene polymorphisms with systemic sclerosis in a French European Caucasian population
Scandinavian Journal of Rheumatology , 03/26/09
Wipff J et al. – Study reports an association between the hypoxia-inducible factor 1A (HIF1A) gene and Systemic sclerosis (SSc) in a European Caucasian population, supporting its role in the pathophysiology of SSc.
Methods- Study to determine whether polymorphisms of the HIF1A gene affects susceptibility to SSc in a large French European Caucasian population
- 659 SSc pts and 511 healthy matched controls
- 3 tag SNPs of the HIF1A gene (rs12434438 A/G, rs1957757 C/T, and rs11549465 C/T) were genotyped
- Frrequency of of genotypes carrying at least one G allele (A/G and/or GG) of the rs12434438 SNP was higher in SSc pts vs controls
- Heterozygous genotype A/G was associated with SSc with the limited cutaneous form of SSc and with positive anti-centromere Abs
- No association was detected for the remaining two HIF1A SNPs tested
- Haplotype analyses did not detect any association with SSc
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