Genome wide association study of silent cerebral infarction in sickle cell disease (HbSS and HbSC)
نویسندگان
چکیده
منابع مشابه
genome-wide association studies in myocardial infarction and coronary artery disease
myocardial infarction (mi) and its major determinant, coronary artery disease (cad), are complex diseases arising from the interaction between several genetic and environmental factors. until recently, the genetic basis of these diseases was poorly understood. genome-wide genetic association studies have afforded a comprehensive insight into the association between genetic variants and diseases...
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Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubin levels and an increased incidence of cholelithiasis. We performed the first genome-wide association study (GWAS) of bilirubin levels and ch...
متن کاملProteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction.
Silent cerebral infarction is the commonest neurological abnormality in children with sickle cell anemia, affecting 30-40% 14 year olds. There are no known biomarkers to identify children with silent cerebral infarcts and the pathological basis is also unknown. We used an unbiased proteomic discovery approach to identify plasma proteins differing in concentration between children with and witho...
متن کاملGenome Wide Association Study of Fetal Hemoglobin in Sickle Cell Anemia in Tanzania
BACKGROUND Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered. METHODS AND FINDINGS We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSβ0) patients in Tanzania. Genotyping was done wi...
متن کاملAcute silent cerebral ischemia and infarction during acute anemia in children with and without sickle cell disease.
We hypothesized that the silent cerebral infarcts (SCI), which affect up to 40% of children with sickle cell disease (SCD), could occur in the setting of acute anemic events. In a prospective observational study of children with and without SCD hospitalized for an illness associated with acute anemia, we identified acute silent cerebral ischemic events (ASCIE) in 4 (18.2%) of 22 with SCD and in...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2020
ISSN: 1592-8721,0390-6078
DOI: 10.3324/haematol.2020.265827