MYH9 and APOL1 are both associated with sickle cell disease nephropathy
نویسندگان
چکیده
منابع مشابه
Gene-gene interactions in APOL1-associated nephropathy.
BACKGROUND Two APOL1 nephropathy variants confer substantial risk for non-diabetic end-stage kidney disease (ESKD) in African Americans (AAs). Since not all genetically high-risk individuals develop ESKD, modifying factors likely contribute. Forty-two potentially interactive single nucleotide polymorphisms (SNPs) from a genome-wide association study in non-diabetic ESKD were tested for interact...
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 کاملAssessing clinical laboratory funding of Sickle Cell Disease and others associated Disorders in Khuzestan Province
Objective: The aim of this study was to assess clinical laboratory funding for differential diagnosis of sickle cell disease (SCD) and other associated disorders for better understanding of clinical types and prevention of sickling events. Material and Methods: This is a descriptive crossed-sectional study that analyzed the peripheral blood film, sickle cell preparation, hemoglobin electroph...
متن کاملIn vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress
African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein L1 (APOL1); however, there is little functional evidence supporting the role of this protein in renal function. Here, we combined genetics and in vivo modeling to examine the role of apol1 in glomerular development and pronephric filtrati...
متن کاملPolymorphisms in MYH9 are associated with diabetic nephropathy in European Americans.
BACKGROUND Polymorphisms in the non-muscle myosin IIA gene (MYH9) are associated with focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease (ESRD) in African Americans and FSGS in European Americans. We tested for association of single nucleotide polymorphisms (SNPs) in MYH9 with T2DM-ESRD in European Americans; additionally, three APOL1 gene variants were evaluated...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2011
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2011.08832.x