rs2515475
This is a intron variant variant in the ANGPT2 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in the angiopoietin-2 gene are associated with increased risk of ARDSAssociationN=1,529Su L. et al.(2009)· Intensive Care Medicine
This case-control study of 1,529 critically ill patients (449 ARDS cases, 1,080 controls) examined genetic variants in the angiopoietin-2 (ANGPT2) gene and their association with acute respiratory distress syndrome (ARDS) risk. Nine tagging SNPs spanning the entire ANGPT2 gene were genotyped and analyzed using logistic regression. The variant T allele of rs2515475 was significantly associated with increased ARDS risk overall (OR adjusted = 1.28, p = 0.042) and more strongly in subjects with extrapulmonary injuries (OR adjusted = 1.79, p = 0.004). A haplotype containing the T alleles of rs2515475 and rs2959811 was also significantly associated with ARDS risk (OR = 1.42, p = 0.009; OR = 1.90 in extrapulmonary injury patients, p = 0.004).
About ANGPT2
This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]
View all ANGPT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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