Genetic Mechanism of Human Neutrophil Antigen 2 Deficiency and Expression Variations

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Human neutrophil antigen 2 (HNA-2) is coded by CD177 gene that involves in human myeloproliferative disorders. HNA-2 expression varies among humans and about 3–5% people lack HNA-2 expression. HNA-2 deficient people are susceptible to produce HNA-2 alloantibodies, which play a pathological role in various human diseases including transfusion-related acute lung injury, neonatal alloimmune neutropenia, autoimmune neutropenia, drug-induced immune neutropenia, and graft failure following marrow transplantation. The level of HNA-2 expression has also been identified as a prognostic biomarker for the gastric cancer. Although HNA-2 is among the most important clinical antigens, the underlying genetic mechanism of HNA-2 deficiency and expression variations has remained unknown. Here, we demonstrate that HNA-2 deficiency and expression variations are primarily caused by a novel CD177 genetic polymorphism that disrupts HNA-2 expression. The illumination of genetic mechanism for HNA-2 deficiency and expression variations will enable the development of effective HNA-2 genetic tests. Our findings will facilitate prognosis and diagnosis of HNA-2-related human disorders.

Vyšlo v časopise: Genetic Mechanism of Human Neutrophil Antigen 2 Deficiency and Expression Variations. PLoS Genet 11(5): e32767. doi:10.1371/journal.pgen.1005255
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005255

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