P1640: SINGLE NUCLEOTIDE POLYMORPHISMS OF THE HIF1A GENE ARE ASSOCIATED WITH SENSITIVITY OF GLUCOCORTICOID TREATMENT IN PEDIATRIC ITP PATIENTS

HIF1A Candidate gene
DOI: 10.1097/01.hs9.0000849416.65982.ed Publication Date: 2022-06-24T08:03:42Z
ABSTRACT
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 pathologic activities of autoimmune diseases,suggesting HIF1α may be involved immune dysregulation patients thrombocytopenia (ITP). Aims: The purpose this study was to evaluate whether single nucleotide polymorphisms (SNPs) HIF1A gene are susceptibility ITP its clinical prognosis including incidence chronic (CITP) glucocorticoid sensitivity. Methods: This 197 Chinese pediatric (discovery cohort) 220 healthy controls. Sequenom MassArray system (Sequenom, San Diego, CA) used detect three SNPs genotypes gene: rs11549465, rs1957757 rs2057482. We also employed another cohort (N = 127) validate significant results found discovery cohort. Results: frequencies did not show any differences between control groups. CT genotype at rs11549465 significantly higher sensitive glucocorticoid-treatment than those insensitive (P .025). These were validated using =127, P .033). Moreover, CC risk factor for GT OR (95% confidence interval) 5.96(5.23-6.69) standard prednisone (PDN) (P=.0069) 6.35(5.33-7.37) high-dose dexamethasone (HDD) (P=.04). Summary/Conclusion: Although ITP, sensitivity patients, suggesting SNP contribute treatment patients.
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