Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0023473 (
chronic myeloid leukemia
)
18,916
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Human neutrophil antigen 2 (HNA-2) deficiency is a common phenotype as 3-5% humans do not express
HNA
-2.
HNA
-2 is coded by CD177 gene that associates with human myeloproliferative disorders.
HNA
-2 deficient individuals are prone to produce
HNA
-2 alloantibodies that cause a number of disorders including transfusion-related acute lung injury and immune neutropenia. In addition, the percentages of
HNA
-2 positive neutrophils vary significantly among individuals and
HNA
-2 expression variations play a role in human diseases such as myelodysplastic syndrome,
chronic myelogenous leukemia
, and gastric cancer. The underlying genetic mechanism of
HNA
-2 deficiency and expression variations has remained a mystery. In this study, we identified a novel CD177 nonsense single nucleotide polymorphism (SNP 829A>T) that creates a stop codon within the CD177 coding region. We found that all 829TT homozygous individuals were
HNA
-2 deficient. In addition, the SNP 829A>T genotypes were significantly associated with the percentage of
HNA
-2 positive neutrophils. Transfection experiments confirmed that
HNA
-2 expression was absent on cells expressing the CD177 SNP 829T allele. Our data clearly demonstrate that the CD177 SNP 829A>T is the primary genetic determinant for
HNA
-2 deficiency and expression variations. The mechanistic delineation of
HNA
-2 genetics will enable the development of genetic tests for diagnosis and prognosis of
HNA
-2-related human diseases.
...
PMID:Genetic mechanism of human neutrophil antigen 2 deficiency and expression variations. 2611 43
