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https://www.readbyqxmd.com/read/28732083/apol1-risk-alleles-among-individuals-with-ckd-in-northern-tanzania-a-pilot-study
#1
John W Stanifer, Francis Karia, Venance Maro, Kajiru Kilonzo, Xuejun Qin, Uptal D Patel, Elizabeth R Hauser
INTRODUCTION: In sub-Saharan Africa, approximately 100 million people have CKD, yet genetic risk factors are not well-understood. Despite the potential importance of understanding APOL1 risk allele status among individuals with CKD, little genetic research has been conducted. Therefore, we conducted a pilot study evaluating the feasibility of and willingness to participate in genetic research on kidney disease, and we estimated APOL1 risk allele frequencies among individuals with CKD...
2017: PloS One
https://www.readbyqxmd.com/read/28724794/apol1-variants-change-c-terminal-conformational-dynamics-and-binding-to-snare-protein-vamp8
#2
Sethu M Madhavan, John F O'Toole, Martha Konieczkowski, Laura Barisoni, David B Thomas, Santhi Ganesan, Leslie A Bruggeman, Matthias Buck, John R Sedor
APOL1 variants in African populations mediate resistance to trypanosomal infection but increase risk for kidney diseases through unknown mechanisms. APOL1 is expressed in glomerular podocytes and does not vary with underlying kidney disease diagnoses or APOL1 genotypes, suggesting that the kidney disease-associated variants dysregulate its function rather than its localization or abundance. Structural homology searches identified vesicle-associated membrane protein 8 (VAMP8) as an APOL1 protein interactor. VAMP8 colocalizes with APOL1 in the podocyte, and the APOL1:VAMP8 interaction was confirmed biochemically and with surface plasmon resonance...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28699644/roles-of-apol1%C3%A2-g1-and-g2-variants-in-sickle-cell-disease-patients-kidney-is-the-main-target
#3
Raphaël Kormann, Anne-Sophie Jannot, Céline Narjoz, Jean-Antoine Ribeil, Sandra Manceau, Marianne Delville, Valentin Joste, Dominique Prié, Jacques Pouchot, Eric Thervet, Marie Courbebaisse, Jean-Benoît Arlet
In African-American patients with sickle cell disease (SCD), APOL1 G1 and G2 variants are associated with increased risk of sickle cell nephropathy (SCN). To determine the role of APOL1 variants in SCD patients living in Europe, we genotyped 152 SCD patients [aged 30·4 (24·3-36·4) years], mainly of Sub-Saharan African ancestry, for APOL1 G1 and G2 and for variants of four genes with kidney tropism (GSTM1, GSTT1, GSTP1, and HMOX1). Homozygous or double-heterozygous APOL G1 and G2 genotypes were strongly associated with end stage renal disease (P = 0·003) and worse Kidney Disease: Improving Global Outcomes stages (P = 0·001)...
July 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28696248/intracellular-apol1-risk-variants-cause-cytotoxicity-accompanied-by-energy-depletion
#4
Daniel Granado, Daria Müller, Vanessa Krausel, Etty Kruzel-Davila, Christian Schuberth, Melanie Eschborn, Roland Wedlich-Söldner, Karl Skorecki, Hermann Pavenstädt, Ulf Michgehl, Thomas Weide
Population genetic approaches have uncovered a strong association between kidney diseases and two sequence variants of the APOL1 gene, called APOL1 risk variant G1 and variant G2, compared with the nonrisk G0 allele. However, the mechanism whereby these variants lead to disease manifestation and, in particular, whether this involves an intracellular or extracellular pool of APOL1 remains unclear. Herein, we show a predominantly intracellular localization of APOL1 G0 and the renal risk variants, which localized to membranes of the endoplasmic reticulum in podocyte cell lines...
July 10, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28669990/chronic-kidney-disease-role-of-supar-in-apol1-associated-kidney-disease
#5
Ellen F Carney
No abstract text is available yet for this article.
July 3, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28650456/a-tripartite-complex-of-supar-apol1-risk-variants-and-%C3%AE-v%C3%AE-3-integrin-on-podocytes-mediates-chronic-kidney-disease
#6
Salim S Hayek, Kwi Hye Koh, Morgan E Grams, Changli Wei, Yi-An Ko, Jing Li, Beata Samelko, Hyun Lee, Ranadheer R Dande, Ha Won Lee, Eunsil Hahm, Vasil Peev, Melissa Tracy, Nicholas J Tardi, Vineet Gupta, Mehmet M Altintas, Garrett Garborcauskas, Nikolina Stojanovic, Cheryl A Winkler, Michael S Lipkowitz, Adrienne Tin, Lesley A Inker, Andrew S Levey, Martin Zeier, Barry I Freedman, Jeffrey B Kopp, Karl Skorecki, Josef Coresh, Arshed A Quyyumi, Sanja Sever, Jochen Reiser
Soluble urokinase plasminogen activator receptor (suPAR) independently predicts chronic kidney disease (CKD) incidence and progression. Apolipoprotein L1 (APOL1) gene variants G1 and G2, but not the reference allele (G0), are associated with an increased risk of CKD in individuals of recent African ancestry. Here we show in two large, unrelated cohorts that decline in kidney function associated with APOL1 risk variants was dependent on plasma suPAR levels: APOL1-related risk was attenuated in patients with lower suPAR, and strengthened in those with higher suPAR levels...
June 26, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28611783/apolipoprotein-l1-genetic-variants-are-associated-with-chronic-kidney-disease-but-not-with-cardiovascular-disease-in-a-population-referred-for-cardiac-catheterization
#7
Hanghang Wang, Patrick H Pun, Lydia Kwee, Damian Craig, Carol Haynes, Megan Chryst-Ladd, Laura P Svetkey, Uptal D Patel, Elizabeth R Hauser, Martin R Pollak, William E Kraus, Svati H Shah
BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by APOL1 variants in a secondary cardiovascular prevention population. METHODS: Two risk variants in APOL1 were genotyped in African-Americans (n = 1,641) enrolled in the CATHGEN biorepository, comprised of patients referred for cardiac catheterization at Duke University Hospital, Durham, NC, USA (2001-2010)...
February 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/28578979/hiv-associated-kidney-diseases-clarifying-concordance-between-renal-failure-in-hiv-infection-and-histopathologic-manifestations-at-kidney-biopsy
#8
REVIEW
Carla L Ellis
Patients with HIV infection have a wide spectrum of renal diseases. Some are known to be the direct effect of the viral infection while others are renal diseases that also occur in uninfected populations. HIV associated nephropathy (HIVAN) is considered to be a subtype of primary focal and segmental glomerulosclerosis that is distinct in HIV infected patients. It is more frequent in the African-American population and associated with mutations of the apolipoprotein L1 (APOL1) gene. HIV associated immune complex kidney disease (HIVICD) encompasses a spectrum of HIV associated renal diseases characterized by the presence of immune complex deposition within glomeruli...
July 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28572159/apol1-risk-variants-and-cardiovascular-disease-results-from-the-aask-african-american-study-of-kidney-disease-and-hypertension
#9
Teresa K Chen, Lawrence J Appel, Morgan E Grams, Adrienne Tin, Michael J Choi, Michael S Lipkowitz, Cheryl A Winkler, Michelle M Estrella
OBJECTIVE: Among black, the apolipoprotein L1 (APOL1) risk variants have been associated with various types of kidney disease and chronic kidney disease progression. We aimed to determine whether these same risk variants also confer an increased risk for cardiovascular disease. APPROACH AND RESULTS: In a cohort of blacks with hypertension-attributed chronic kidney disease followed for up to 12 years, we used Cox proportional hazards models to estimate the relative hazard of a composite cardiovascular disease outcome (cardiovascular death or hospitalization for myocardial infarction, cardiac revascularization procedure, heart failure, or stroke) for the APOL1 high- (2 risk variants) versus low-risk (0-1 risk variant) genotypes...
June 1, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28545715/apol1-genetic-variants-are-not-associated-with-longitudinal-blood-pressure-in-young-black-adults
#10
Teresa K Chen, Michelle M Estrella, Eric Vittinghoff, Feng Lin, Orlando M Gutierrez, Holly Kramer, Cora E Lewis, Jeffrey B Kopp, Norrina B Allen, Cheryl A Winkler, Kirsten B Bibbins-Domingo, Carmen A Peralta
Whether APOL1 polymorphisms contribute to the excess risk of hypertension among blacks is unknown. To assess this we evaluated whether self-reported race and, in blacks, APOL1 risk variants (high-risk [2 risk alleles] versus low-risk [0-1 risk allele]) were associated with longitudinal blood pressure. Blood pressure trajectories were determined using linear mixed-effects (slope) and latent class models (5 distinct groups) during 25 years of follow-up in the Coronary Artery Risk Development in Young Adults Study...
May 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28537557/apol1-renal-risk-variants-have-contrasting-resistance-and-susceptibility-associations-with-african-trypanosomiasis
#11
Anneli Cooper, Hamidou Ilboudo, V Pius Alibu, Sophie Ravel, John Enyaru, William Weir, Harry Noyes, Paul Capewell, Mamadou Camara, Jacqueline Milet, Vincent Jamonneau, Oumou Camara, Enock Matovu, Bruno Bucheton, Annette MacLeod
Reduced susceptibility to infectious disease can increase the frequency of otherwise deleterious alleles. In populations of African ancestry, two apolipoprotein-L1 (APOL1) variants with a recessive kidney disease risk, named G1 and G2, occur at high frequency. APOL1 is a trypanolytic protein that confers innate resistance to most African trypanosomes, but not Trypanosoma brucei rhodesiense or T.b. gambiense, which cause human African trypanosomiasis. In this case-control study, we test the prevailing hypothesis that these APOL1 variants reduce trypanosomiasis susceptibility, resulting in their positive selection in sub-Saharan Africa...
May 24, 2017: ELife
https://www.readbyqxmd.com/read/28494221/does-copy-number-variation-of-apol1-gene-affect-the-susceptibility-to-focal-segmental-glomerulosclerosis
#12
Ting Peng, Guisen Li, Xiang Zhong, Li Wang
BACKGROUND: APOL1 risk variants (G1 and G2) are associated with increased susceptibility to focal segmental glomerulosclerosis (FSGS) in African population. However, the two risk mutations were not found in Chinese FSGS patients. In this study, we explored the association between the copy number variation (CNV) of APOL1 gene and FSGS. METHODS: APOL1 copy number variations were detected by quantitative real-time PCR with TaqMan probes and compared between 133 FSGS patients and 123 controls...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28481398/evolutionary-trade-offs-in-kidney-injury-and-repair
#13
REVIEW
Yutian Lei, Hans-Joachim Anders
Evolutionary medicine has proven helpful to understand the origin of human disease, e.g. in identifying causal roles of recent environmental changes impacting on human physiology (environment-phenotype mismatch). In contrast, diseases affecting only a limited number of members of a species often originate from evolutionary trade-offs for usually physiologic adaptations assuring reproductive success in the context of extrinsic threats. For example, the G1 and G2 variants of the APOL1 gene supporting control of Trypanosoma infection come with the trade-off that they promote the progression of kidney disease...
May 8, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28466968/clinical-and-genetic-predictors-of-renal-dysfunctions-in-sickle-cell-anaemia-in-cameroon
#14
Amy Geard, Gift D Pule, Bernard Chetcha Chemegni, Valentina J Ngo Bitoungui, Andre P Kengne, Emile R Chimusa, Ambroise Wonkam
Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811)...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28391347/therapeutics-for-apol1-nephropathies-putting-out-the-fire-in-the-podocyte
#15
Jurgen Heymann, Cheryl A Winkler, Maarten Hoek, Katalin Susztak, Jeffrey B Kopp
APOL1 nephropathies comprise a range of clinical and pathologic syndromes, which can be summarized as focal segmental glomerulosclerosis, in various guises, and arterionephrosclerosis, otherwise known as hypertensive kidney diseases. Current therapies for these conditions may achieve therapeutic targets, reduction in proteinuria and control of blood pressure, respectively, but often fail to halt the progressive decline in kidney function. It appears that current therapies fail to address certain underlying critical pathologic processes that are driven, particularly in podocytes and microvascular cells, by the APOL1 renal risk genetic variants...
January 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28388606/a-mouse-recapitulating-apol1-associated-kidney-disease
#16
Cheryl A Winkler, George W Nelson
No abstract text is available yet for this article.
April 7, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28385815/effect-of-apol1-disease-risk-variants-on-apol1-gene-product
#17
Shabirul Haque, Gauri Patil, Abheepsa Mishra, Xiqian Lan, Waldemar Popik, Ashwani Malhotra, Karl Skorecki, Pravin C Singhal
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 transcription and translation. APOL1 plasmids (EV, G0, G1 and G2) were transfected into human embryonic kidney (HEK) 293T cells...
April 30, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28339911/a-null-variant-in-the-apolipoprotein-l3-gene-is-associated-with-non-diabetic-nephropathy
#18
Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman
Background.: Inheritance of apolipoprotein L1 gene ( APOL1 ) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1 -associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loci are also associated with ESKD in non-African Americans. Methods.: We assessed the role of the APOL3 null allele rs11089781 on risk of non-diabetic ESKD...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28335839/apolipoprotein-l1-variants%C3%A2-and-blood-pressure-traits-in%C3%A2-african-americans
#19
Girish N Nadkarni, Geneviève Galarneau, Stephen B Ellis, Rajiv Nadukuru, Jinglan Zhang, Stuart A Scott, Claudia Schurmann, Rongling Li, Laura J Rasmussen-Torvik, Abel N Kho, M Geoffrey Hayes, Jennifer A Pacheco, Teri A Manolio, Rex L Chisholm, Dan M Roden, Joshua C Denny, Eimear E Kenny, Erwin P Bottinger
BACKGROUND: African Americans (AA) are disproportionately affected by hypertension-related health disparities. Apolipoprotein L1 (APOL1) risk variants are associated with kidney disease in hypertensive AAs. OBJECTIVES: This study assessed the APOL1 risk alleles' association with blood pressure traits in AAs. METHODS: The discovery cohort included 5,204 AA participants from Mount Sinai's BioMe biobank. Replication cohorts included additional BioMe (n = 1,623), Vanderbilt BioVU (n = 1,809), and Northwestern NUgene (n = 567) AA biobank participants...
March 28, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28314574/apol1-a-case-in-point-for-replacing-race-with-genetics
#20
Girish N Nadkarni, Christina M Wyatt, Barbara Murphy, Michael J Ross
Ethnicity-specific differences in apolipoprotein L1 (APOL1) polymorphisms are associated with racial disparities in kidney transplantation outcomes. APOL1 genotyping may better help define graft outcome risk pre-transplantation; however, more research is needed.
April 2017: Kidney International
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