Genome-Wide Evaluation of Epistasis with APOL1 Risk Variants in Sickle Cell Disease Nephropathy
نویسندگان
چکیده
منابع مشابه
Effect of APOL1 disease risk variants on APOL1 gene product
Gene sequence mutations may alter mRNA transcription, transcript stability, protein translation, protein stability and protein folding. Apolipoprotein L1 (APOL1) has two sets of sequence variants that are risk factors for kidney disease development, APOL1G1 (substitution mutation) and APOL1G2 (deletion mutation). Our present study focuses on the impact of these variants on APOL1 mRNA transcript...
متن کاملAPOL1 Risk Variants Independently Associated With Early Cardiovascular Disease Death
Introduction The relationship of APOL1 renal risk variants to cardiovascular disease (CVD) is controversial and was the subject of this investigation. Methods Age, cause of death, and nephrosclerosis (the latter defined by glomerulosclerosis) were analyzed in the autopsies of 162 African Americans and 136 whites genotyped for APOL1 risk alleles. Results Sudden deaths represented >75% of CVD...
متن کاملDISEASE OF THE MONTH Sickle Cell Nephropathy
Epidemiology The presence of renal failure in sickle cell disease (SCD) ranges from 5 to 18% of the total population of SCD patients (1). Powars et al. (2), in a prospective, case-control study of patients with SCD compared with sickle cell hemoglobin C patients, documented 31 (4.2%) patients affected by renal failure. The median age at the time of renal failure was 23.1 yr. Survival time was 4...
متن کاملIntracardiac Thrombosis in Sickle Cell Disease
In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v126.23.3401.3401