Single Nucleotide Polymorphisms of the HIF1A Gene in Immune Thrombocytopenia

In the Journal of Pediatric Hematology/Oncology, researchers examined whether single nucleotide polymorphisms (SNPs) of the hypoxia-inducible factor-1α (HIF1A) gene were associated with susceptibility to immune thrombocytopenia (ITP) and subsequent clinical prognosis. According to co-primary investigators Hao Gu, MD, and Xingjuan Xie, MD, “Although HIF1A gene polymorphisms were not associated with susceptibility to ITP, the CT genotype at rs11549465 was associated with the sensitivity to glucocorticoid treatment of ITP patients.”

The study enrolled 197 pediatric Chinese patients with ITP and 220 healthy controls. The researchers used the Sequenom MassArray system to assess three SNP genotypes in the HIF1A gene: rs11549465, rs1957757, and rs2057482. The authors’ initial statistically significant findings were validated in a follow-up cohort of 127 patients with ITP.

According to the article, “the frequencies of the three SNPs did not show any significant differences between the ITP and healthy control groups.” The CT genotype at rs11549465 was significantly higher in patients with ITP who were sensitive to glucocorticoid treatment than in those who were not sensitive (p = 0.025), and this finding was confirmed in the validation cohort (p = 0.033). Additionally, the CC genotype was a risk factor for non-sensitivity to glucocorticoid treatment in standard prednisone (odds ratio = 5.96; 95% confidence interval [CI], 5.23–6.6; p = 0.0069) and high-dose dexamethasone (odds ratio = 6.35; 95% CI, 5.33–7.37; p = 0.04).

In closing, the collaborating researchers suggested that “the rs11549465 SNP may contribute to the sensitivity of glucocorticoid treatment in pediatric ITP patients.”