ISTH Congress Abstracts

Official abstracts site for the ISTH Congress

MENU 

Single nucleotide polymorphisms of the HIF1A gene are associated with sensitivity of glucocorticoid treatment in pediatric ITP patients

1Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, Beijing, China (People's Republic), 2Capital Medical University, Beijing, Beijing, China (People's Republic), 3Hematology Oncology Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, Beijing, China (People's Republic), 4Beijing Children’s Hospital, Beijing, Beijing, China (People's Republic), 5Beijing Children's Hospital, Beijing, Beijing, China (People's Republic)

Abstract Number: VPB0149

Meeting: ISTH 2022 Congress

Theme: Diagnostics and OMICs » Biomarkers of Thrombosis and Hemostasis

Background: Hypoxia-inducible factor-1α (HIF-1α) plays a crucial role in both innate and adaptive immunity. Emerging evidence indicates that HIF-1α is associated with the inflammation and pathologic activities of autoimmune diseases, suggesting that HIF1α may be involved in immune dysregulation in patients with immune thrombocytopenia (ITP).

Aims: The purpose of this study was to evaluate whether single nucleotide polymorphisms (SNPs) of the HIF1A gene are associated with susceptibility to ITP and its clinical prognosis including incidence of chronic immune thrombocytopenia (CITP) and glucocorticoid sensitivity.

Methods: This study involved 197 Chinese ITP pediatric patients (discovery cohort) and 220 healthy controls. The Sequenom MassArray system (Sequenom, San Diego, CA) was used to detect three SNPs genotypes in the HIF1A gene: rs11549465, rs1957757 and rs2057482. We also employed another ITP cohort (N = 127) to validate the significant results of SNPs found in the discovery cohort.

Results: 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 ITP patients sensitive to glucocorticoid-treatment than in those insensitive to glucocorticoid-treatment (P = .025). These results were validated using another ITP cohort (N =127, P = .033). Moreover, the CC genotype was a risk factor for insensitive to GT the OR (95% confidence interval) was 5.96(5.23-6.69) in standard prednisone (PDN) (P=.0069) and 6.35(5.33-7.37) in high-dose dexamethasone (HDD) (P=.04).

Conclusion(s): 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, suggesting that the rs11549465 SNP may contribute to the sensitivity of glucocorticoid treatment in pediatric ITP patients.

Table

HIF1A SNP associated with sensitivity of glucocorticoid treatment in pediatric ITP patients

To cite this abstract in AMA style:

Gu H, Xie X, MA J, Fu L, Ma J, Wu R, Chen Z. Single nucleotide polymorphisms of the HIF1A gene are associated with sensitivity of glucocorticoid treatment in pediatric ITP patients [abstract]. https://abstracts.isth.org/abstract/single-nucleotide-polymorphisms-of-the-hif1a-gene-are-associated-with-sensitivity-of-glucocorticoid-treatment-in-pediatric-itp-patients/. Accessed September 29, 2023.

« Back to ISTH 2022 Congress

ISTH Congress Abstracts - https://abstracts.isth.org/abstract/single-nucleotide-polymorphisms-of-the-hif1a-gene-are-associated-with-sensitivity-of-glucocorticoid-treatment-in-pediatric-itp-patients/