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[PMID]:27771416
[Au] Autor:Cronjé HT; Nienaber-Rousseau C; Zandberg L; Chikowore T; de Lange Z; van Zyl T; Pieters M
[Ad] Endereço:Centre of Excellence for Nutrition, North-West University, Potchefstroom, South Africa.
[Ti] Título:Candidate gene analysis of the fibrinogen phenotype reveals the importance of polygenic co-regulation.
[So] Source:Matrix Biol;60-61:16-26, 2017 Jul.
[Is] ISSN:1569-1802
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Fibrinogen and its functional aspects have been linked to cardiovascular disease. There is vast discrepancy between the heritability of fibrinogen concentrations observed in twin studies and the heritability uncovered by genome wide association studies. We postulate that some of the missing heritability might be explained by the pleiotropic and polygenic co-regulation of fibrinogen through multiple targeted genes, apart from the fibrinogen genes themselves. To this end we investigated single nucleotide polymorphisms (SNPs) in genes coding for phenotypes associated with total and γ' fibrinogen concentrations and clot properties. Their individual and accumulative associations with the fibrinogen variables were explored together with possible co-regulatory processes as a result of the gain and loss of transcription factor binding sites (TFBS). Seventy-eight SNPs spanning the APOB, APOE, CBS, CRP, F13A1, FGA, FGB, FGG, LDL-R, MTHFR, MTR, PCSK-9 and SERPINE-1 genes were included in the final analysis. A novel PCSK-9 SNP (rs369066144) was identified in this population, which associated significantly (p=0.04) with clot lysis time (CLT). Apart from SNPs in the fibrinogen (FGA, FGB and FGG) and FXIII (F13A1) genes, the fibrinogen phenotypes were also associated with SNPs in genes playing a role in lipid homeostasis (LDL-R, PCSK-9) together with CBS and CRP polymorphisms (particularly, CRP-rs3093068). The genetic risk scores, presenting accumulative genetic risk, were significantly associated (p≤0.007) with total and γ' fibrinogen concentrations, lag time, slope and CLT, highlighting the importance of a polygenetic approach in determining complex phenotypes. SNPs significantly associated with the fibrinogen phenotypes, resulted in a total of 75 TFBS changes, of which 35 resulted in a loss and 40 in a gain of TFBS. In terms of co-regulation, V$IRF4.02, V$E2FF and V$HIFF were of particular importance. The investigation into TFBS provided valuable insight as to how sequence divergences in seemingly unrelated genes can result in transcriptional co-regulation of the fibrinogen phenotypes. The observed associations between the identified SNPs and the fibrinogen phenotypes therefore do not imply direct effects on cardiovascular disease outcomes, but may prove useful in explaining more of the genetic regulation of the investigated fibrinogen phenotypes.
[Mh] Termos MeSH primário: Coagulação Sanguínea/genética
Fibrinogênios Anormais/genética
Regulação da Expressão Gênica
Pleiotropia Genética
Polimorfismo de Nucleotídeo Único
Transcrição Genética
[Mh] Termos MeSH secundário: Adulto
Apolipoproteínas/genética
Apolipoproteínas/metabolismo
Sítios de Ligação
Proteína C-Reativa/genética
Proteína C-Reativa/metabolismo
Estudos Transversais
Cistationina beta-Sintase/genética
Cistationina beta-Sintase/metabolismo
Feminino
Tempo de Lise do Coágulo de Fibrina
Fibrinogênios Anormais/metabolismo
Perfilação da Expressão Gênica
Estudo de Associação Genômica Ampla
Seres Humanos
Masculino
Meia-Idade
Pró-Proteína Convertase 9/genética
Pró-Proteína Convertase 9/metabolismo
Ligação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins); 0 (Fibrinogens, Abnormal); 0 (fibrinogen gamma'); 9007-41-4 (C-Reactive Protein); EC 3.4.21.- (PCSK9 protein, human); EC 3.4.21.- (Proprotein Convertase 9); EC 4.2.1.22 (Cystathionine beta-Synthase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE


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[PMID]:29222858
[Au] Autor:Czubkowski P; Wierzbicka A; Pawlowska J; Jankowska I; Socha P
[Ad] Endereço:Department of Gastroenterology, Hepatology, Nutritional Disturbances and Pediatrics. The Children's Memorial Health Institute, Warsaw, Poland.
[Ti] Título:Obesity, lipid profiles and oxidative stress in children after liver transplantation.
[So] Source:Acta Biochim Pol;64(4):661-665, 2017.
[Is] ISSN:1734-154X
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:PURPOSE: In adult liver transplant recipients, coronary artery disease and congestive heart failure are significant cause of morbidity and mortality. This may be attributed to the long-term immunosuppressive treatment, mostly with calcineurin inhibitors and steroids, which in long-term may be associated with hyperlipidemia, oxidative stress and cardiovascular complications. Since such data for children is sparse, the aim of this study was to assess the lipid and oxidative stress markers after pediatric liver transplantation (LTx). METHOD: We performed prospective analysis of 74 children, at the median age of 7.9 (2.8-11.6) years, 3.2 (1.2-4.3) years after LTx. We assessed the BMI Z-scores, cholesterol fractions (LDLc, HDLc, VLDLc), triglicerides, apolipoproteins (ApoAI, ApoB, ApoE), LCAT, insulin resistance by HOMA-IR and markers of oxidative stress and atherosclerosis: glutathione (GSH), glutathione peroxidase (GPx), asymmetrical dimethyl arginine (ADMA) and oxidized low-density lipoprotein (oxyLDL). At baseline, the results were compared with a healthy age-and-sex matched control group. After 3.1±0.3 year follow-up we repeated all investigations and compared them with the baseline results. RESULTS: At the baseline, we investigated 74 patients 3.2 (1.2-4.3) years after LTx, at the median age of 7.9 (2.8-11.6) years. The prevalence of overweight or obesity (BMI >85 percentile) was 23% and was more common in girls (24% vs 20%). Fourteen patients had TCH >200 mg%, 9 patients had LDLc >130 mg% and TG were at normal levels in all patients. Compared to the controls, there were no significant differences in lipid profiles but we found decreased GSH (p<0.001) and GPx (p<0.001) which play role as an antioxidant defense. OS markers were higher in the study group: ADMA (p<0.001), and oxyLDL (p<0.0001). Insulin resistance by HOMA-IR was increased in the study group (p=0.0002) but fasting glucose remained within normal ranges in all patients. After 3.1-year follow-up, the BMI >95 and >85 percentile was present in 8% and 14% respectively. ADMA and oxyLDL decreased, whilst GSH and GPx increased when compared to the baseline. There was also significant decrease in apoB and Lp(a). CONCLUSION: Children after LTx had normal lipid profiles when compared to controls, however there is a tendency for hypercholesterolemia and obesity, which may play a role in cardiovascular complications in the future. Some markers of oxidative stress were increased after LTx, however further investigations are required to establish its clinical significance.
[Mh] Termos MeSH primário: Lipídeos/sangue
Transplante de Fígado/efeitos adversos
Obesidade/etiologia
Estresse Oxidativo
[Mh] Termos MeSH secundário: Apolipoproteínas/sangue
Arginina/análogos & derivados
Arginina/sangue
Biomarcadores/sangue
Índice de Massa Corporal
Estudos de Casos e Controles
Criança
Pré-Escolar
Feminino
Seguimentos
Seres Humanos
Hipercolesterolemia/etiologia
Resistência à Insulina
Masculino
Obesidade/sangue
Triglicerídeos/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Apolipoproteins); 0 (Biomarkers); 0 (Lipids); 0 (Triglycerides); 0 (dimethylarginine); 94ZLA3W45F (Arginine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171210
[St] Status:MEDLINE
[do] DOI:10.18388/abp.2017_1623


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[PMID]:28466968
[Au] Autor:Geard A; Pule GD; Chetcha Chemegni B; Ngo Bitoungui VJ; Kengne AP; Chimusa ER; Wonkam A
[Ad] Endereço:Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon.
[So] Source:Br J Haematol;178(4):629-639, 2017 08.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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). The median age was 15 years; the majority presented with micro-albuminuria (60·9%; n = 248), and approximately half with glomerular hyperfiltration (49·5%; n = 200). Age, male sex, haemoglobin level, leucocyte count, mean corpuscular volume, blood pressure, body mass index and creatinine levels significantly affected albuminuria and/or eGFR. Co-inheritance of alpha-thalassaemia was protective against macro-albuminuria (P = 0·03). APOL1 G1/G2 risk variants were significantly associated with the ACR (P = 0·01) and borderline with eGFR (P = 0·07). HMOX1 - rs743811 was borderline associated with micro-albuminuria (P = 0·07) and macro-albuminuria (P = 0·06). The results revealed a high proportion of micro-albuminuria and glomerular hyperfiltration among Cameroonian SCD patients, and support the possible use of targeted genetic biomarkers for risks assessment.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Insuficiência Renal/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Albuminúria/epidemiologia
Albuminúria/etiologia
Albuminúria/genética
Anemia Falciforme/epidemiologia
Anemia Falciforme/genética
Antropometria/métodos
Apolipoproteína L1
Apolipoproteínas/genética
Camarões/epidemiologia
Criança
Pré-Escolar
Feminino
Deleção de Genes
Predisposição Genética para Doença
Variação Genética
Taxa de Filtração Glomerular/genética
Hemoglobina A Glicada/genética
Heme Oxigenase-1/genética
Seres Humanos
Lipoproteínas HDL/genética
Masculino
Meia-Idade
Estudos Prospectivos
Insuficiência Renal/epidemiologia
Insuficiência Renal/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Glycated Hemoglobin A); 0 (Lipoproteins, HDL); EC 1.14.14.18 (HMOX1 protein, human); EC 1.14.14.18 (Heme Oxygenase-1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14724


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[PMID]:29054558
[Au] Autor:Ledda C; Iavicoli I; Bracci M; Avola R; Senia P; Santarelli L; Pomara C; Rapisarda V
[Ad] Endereço:Occupational Medicine, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. Electronic address: cledda@unict.it.
[Ti] Título:Serum lipid, lipoprotein and apolipoprotein profiles in workers exposed to low arsenic levels: Lipid profiles and occupational arsenic exposure.
[So] Source:Toxicol Lett;282:49-56, 2018 Jan 05.
[Is] ISSN:1879-3169
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Epidemiologic studies have reported that exposure to arsenic (As) is associated with higher risk of cardiovascular disease (i.e., coronary heart disease and peripheral arterial heart disease) and mortality. This cross-sectional study aimed to compare serum lipid, lipoprotein, and apolipoprotein profiles in workers exposed to As. The subjects of this study included 57 workers exposed to As and 57 controls. Demographic characteristics and occupational information were collected through questionnaires. Exposure to As was assessed in indoor air of a workplace and determined using the creatinine values in the urine. Blood samples were collected using immunochemistry and nephelometry to measure the levels of total cholesterol (CHOL), triglycerides (TRIG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), lipoprotein(a) (Lp(a)), apolipoprotein-A1 (Apo-A1), and apolipoprotein-B (Apo-B). No significant difference in the demographic data was detected between the two groups. Urinary As concentration was significantly (p<0.001) higher in exposed subjects than in the controls (13.4±6.1 and 4.4±6.1µg/gCreat, respectively). No statistically significant differences were observed in CHOL, TRIG, HDL, and LDL concentrations between the two groups. Lp(a), Apo-B, and Apo-B/Apo-A1 ratio values were significantly higher and the Apo-A1 level was significantly lower in the exposed group than in the control subjects. Regression analysis highlighted a significant (p<0.001) association between urinary As and Lp(a), Apo-A1, and Apo-B concentration, and Apo-B/Apo-A1 ratio. This study revealed the influence of As on apolipoproteins, suggesting a potential risk of cardiovascular diseases in subjects exposed to low levels of As.
[Mh] Termos MeSH primário: Poluentes Ocupacionais do Ar/toxicidade
Apolipoproteínas/sangue
Arsênico/toxicidade
Exposição por Inalação/análise
Exposição Ocupacional/análise
[Mh] Termos MeSH secundário: Adulto
Poluentes Ocupacionais do Ar/urina
Arsênico/urina
Estudos Transversais
Seres Humanos
Lipídeos/sangue
Lipoproteínas/sangue
Masculino
Local de Trabalho/normas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Air Pollutants, Occupational); 0 (Apolipoproteins); 0 (Lipids); 0 (Lipoproteins); N712M78A8G (Arsenic)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171201
[Lr] Data última revisão:
171201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171022
[St] Status:MEDLINE


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[PMID]:29059176
[Au] Autor:Ahouty B; Koffi M; Ilboudo H; Simo G; Matovu E; Mulindwa J; Hertz-Fowler C; Bucheton B; Sidibé I; Jamonneau V; MacLeod A; Noyes H; N'Guetta SP; TrypanoGEN Research Group as members of The H3Africa Consortium
[Ad] Endereço:Laboratoire de Génétique, Félix Houphouët Boigny University, Abidjan, Côte d'Ivoire.
[Ti] Título:Candidate genes-based investigation of susceptibility to Human African Trypanosomiasis in Côte d'Ivoire.
[So] Source:PLoS Negl Trop Dis;11(10):e0005992, 2017 Oct.
[Is] ISSN:1935-2735
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Human African Trypanosomiasis (HAT) or sleeping sickness is a Neglected Tropical Disease. Long regarded as an invariably fatal disease, there is increasing evidence that infection by T. b. gambiense can result in a wide range of clinical outcomes, including latent infections, which are long lasting infections with no parasites detectable by microscopy. The determinants of this clinical diversity are not well understood but could be due in part to parasite or host genetic diversity in multiple genes, or their interactions. A candidate gene association study was conducted in Côte d'Ivoire using a case-control design which included a total of 233 subjects (100 active HAT cases, 100 controls and 33 latent infections). All three possible pairwise comparisons between the three phenotypes were tested using 96 SNPs in16 candidate genes (IL1, IL4, IL4R, IL6, IL8, IL10, IL12, IL12R, TNFA, INFG, MIF, APOL1, HPR, CFH, HLA-A and HLA-G). Data from 77 SNPs passed quality control. There were suggestive associations at three loci in IL6 and TNFA in the comparison between active cases and controls, one SNP in each of APOL1, MIF and IL6 in the comparison between latent infections and active cases and seven SNP in IL4, HLA-G and TNFA between latent infections and controls. No associations remained significant after Bonferroni correction, but the Benjamini Hochberg false discovery rate test indicated that there were strong probabilities that at least some of the associations were genuine. The excess of associations with latent infections despite the small number of samples available suggests that these subjects form a distinct genetic cluster different from active HAT cases and controls, although no clustering by phenotype was observed by principle component analysis. This underlines the complexity of the interactions existing between host genetic polymorphisms and parasite diversity.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Predisposição Genética para Doença
Tripanossomíase Africana/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Apolipoproteína L1
Apolipoproteínas/genética
Estudos de Casos e Controles
Criança
Costa do Marfim/epidemiologia
Feminino
Seres Humanos
Interleucina-4/genética
Interleucina-6/genética
Oxirredutases Intramoleculares/genética
Lipoproteínas HDL/genética
Fatores Inibidores da Migração de Macrófagos/genética
Masculino
Meia-Idade
Fenótipo
Polimorfismo de Nucleotídeo Único
Análise de Componente Principal
Trypanosoma brucei gambiense
Tripanossomíase Africana/epidemiologia
Tripanossomíase Africana/parasitologia
Fator de Necrose Tumoral alfa/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (IL4 protein, human); 0 (IL6 protein, human); 0 (Interleukin-6); 0 (Lipoproteins, HDL); 0 (Macrophage Migration-Inhibitory Factors); 0 (Tumor Necrosis Factor-alpha); 207137-56-2 (Interleukin-4); EC 5.3.- (Intramolecular Oxidoreductases); EC 5.3.2.1 (MIF protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171024
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pntd.0005992


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[PMID]:28850570
[Au] Autor:Blazer A; Wang B; Simpson D; Kirchhoff T; Heffron S; Clancy RM; Heguy A; Ray K; Snuderl M; Buyon JP
[Ad] Endereço:Department of Medicine, Division of Rheumatology, New York University School of Medicine, New York, New York, United States of America.
[Ti] Título:Apolipoprotein L1 risk variants associate with prevalent atherosclerotic disease in African American systemic lupus erythematosus patients.
[So] Source:PLoS One;12(8):e0182483, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Atherosclerosis is exaggerated in African American (AA) systemic lupus erythematosus (SLE) patients, with doubled cardiovascular disease (CVD) risk compared to White patients. The extent to which common Apolipoprotein L1 (APOL1) risk alleles (RA) contribute to this trend is unknown. This retrospective cohort study assessed prevalent atherosclerotic disease across APOL1 genotypes in AA SLE patients. METHODS: One hundred thirteen AA SLE subjects were APOL1-genotyped and stratified as having: zero risk alleles, one risk allele, or two risk alleles. Chart review assessed CVD manifestations including abdominal aortic aneurysm, angina, carotid artery disease, coronary artery disease, myocardial infarction, peripheral vascular disease, stroke, and vascular calcifications. Associations between the genotypes and a composite endpoint defined as one or more CVD manifestations were calculated using logistic regression. Symptomatic atherosclerotic disease, excluding incidental vascular calcifications, was also assessed. RESULTS: The 0-risk-allele, 1-risk-allele and 2-risk-allele groups, respectively, comprised 34%, 53%, and 13% of the cohort. Respectively, 13.2%, 41.7%, and 60.0% of the 0-risk allele, 1-risk-allele, and 2-risk-allele groups met the composite endpoint of atherosclerotic CVD (p = 0.001). Adjusting for risk factors-including smoking, ESRD, BMI >25 and hypertension-we observed an association between carrying one or more RA and atherosclerotic CVD (OR = 7.1; p = 0.002). For symptomatic disease, the OR was 3.5 (p = 0.02). In a time-to-event analysis, the proportion of subjects free from the composite primary endpoint, symptomatic atherosclerotic CVD, was higher in the 0-risk-allele group compared to the 1-risk-allele and 2-risk-allele groups (χ2 = 6.5; p = 0.04). CONCLUSIONS: Taken together, the APOL1 RAs associate with prevalent atherosclerotic CVD in this cohort of AA SLE patients, perhaps reflecting a potentiating effect of SLE on APOL1-related cardiovascular phenotypes.
[Mh] Termos MeSH primário: Apolipoproteínas/genética
Aterosclerose/genética
Lúpus Eritematoso Sistêmico/genética
[Mh] Termos MeSH secundário: Adulto
Afroamericanos
Alelos
Aterosclerose/epidemiologia
Comorbidade
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Genótipo
Seres Humanos
Lúpus Eritematoso Sistêmico/epidemiologia
Masculino
Meia-Idade
Prevalência
Estudos Retrospectivos
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0182483


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[PMID]:28784698
[Au] Autor:Jotwani V; Atta MG; Estrella MM
[Ad] Endereço:Kidney Health Research Collaborative, Department of Medicine, University of California, San Francisco, California.
[Ti] Título:Kidney Disease in HIV: Moving beyond HIV-Associated Nephropathy.
[So] Source:J Am Soc Nephrol;28(11):3142-3154, 2017 Nov.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In developed countries, remarkable advances in antiretroviral therapy have transformed HIV infection into a chronic condition. As a result, HIV-associated nephropathy, the classic HIV-driven kidney lesion among individuals of African descent, has largely disappeared in these regions. However, HIV-positive blacks continue to have much higher rates of ESRD than HIV-positive whites, which could be attributed to the renal risk variants. Additionally, HIV-positive individuals face adverse consequences beyond HIV itself, including traditional risk factors for CKD and nephrotoxic effects of antiretroviral therapy. Concerns for nephrotoxicity also extend to HIV-negative individuals using tenofovir disoproxil fumarate-based pre-exposure prophylaxis for the prevention of HIV infection. Therefore, CKD remains an important comorbid condition in the HIV-positive population and an emerging concern among HIV-negative persons receiving pre-exposure prophylaxis. With the improved longevity of HIV-positive individuals, a kidney transplant has become a viable option for many who have progressed to ESRD. Herein, we review the growing knowledge regarding the renal risk variants in the context of HIV infection, antiretroviral therapy-related nephrotoxicity, and developments in kidney transplantation among HIV-positive individuals.
[Mh] Termos MeSH primário: Infecções por HIV/complicações
Insuficiência Renal Crônica/etiologia
[Mh] Termos MeSH secundário: Nefropatia Associada a AIDS/etiologia
Antirretrovirais/efeitos adversos
Apolipoproteína L1
Apolipoproteínas/genética
Infecções por HIV/tratamento farmacológico
Seres Humanos
Transplante de Rim
Lipoproteínas HDL/genética
Insuficiência Renal Crônica/genética
Insuficiência Renal Crônica/cirurgia
Fatores de Risco
Tenofovir/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Anti-Retroviral Agents); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Lipoproteins, HDL); 99YXE507IL (Tenofovir)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170809
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2017040468


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[PMID]:28732083
[Au] Autor:Stanifer JW; Karia F; Maro V; Kilonzo K; Qin X; Patel UD; Hauser ER
[Ad] Endereço:Department of Medicine, Duke University; Durham, NC United States of America.
[Ti] Título:APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study.
[So] Source:PLoS One;12(7):e0181811, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. METHODS: In 2014, we conducted a community-based field study evaluating CKD epidemiology in northern Tanzania. We assessed for CKD using urine albumin and serum creatinine to estimate GFR. We invited participants with CKD to enroll in an additional genetic study. We obtained dried-blood spots on filter cards, from which we extracted DNA using sterile punch biopsies. We genotyped for two single nucleotide polymorphisms (SNPs) defining the APOL1 G1 risk allele and an insertion/deletion polymorphism defining the G2 risk allele. Genotyping was performed in duplicate. RESULTS: We enrolled 481 participant, 57 (12%) of whom had CKD. Among these, enrollment for genotyping was high (n = 48; 84%). We extracted a median of 19.4 ng of DNA from each dried-blood spot sample, and we genotyped the two APOL1 G1 SNPs and the APOL1 G2 polymorphism. Genotyping quality was high, with all duplicated samples showing perfect concordance. The frequency of APOL1 risk variants ranged from 7.0% to 11.0%, which was similar to previously-reported frequencies from the general population of northern Tanzania (p>0.2). DISCUSSION: In individuals with CKD from northern Tanzania, we demonstrated feasibility of genotyping APOL1 risk alleles. We successfully genotyped three risk variants from DNA extracted from filter cards, and we demonstrated a high enrollment for participation. In this population, more extensive genetic studies of kidney disease may be well-received and will be feasible.
[Mh] Termos MeSH primário: Apolipoproteínas/genética
Predisposição Genética para Doença/genética
Lipoproteínas HDL/genética
Polimorfismo de Nucleotídeo Único/genética
Insuficiência Renal Crônica/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Apolipoproteína L1
Estudos Transversais
Feminino
Frequência do Gene/genética
Genótipo
Seres Humanos
Masculino
Meia-Idade
Projetos Piloto
Fatores de Risco
Tanzânia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Lipoproteins, HDL)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170722
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0181811


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[PMID]:28699644
[Au] Autor:Kormann R; Jannot AS; Narjoz C; Ribeil JA; Manceau S; Delville M; Joste V; Prié D; Pouchot J; Thervet E; Courbebaisse M; Arlet JB
[Ad] Endereço:Physiology Department, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
[Ti] Título:Roles of APOL1 G1 and G2 variants in sickle cell disease patients: kidney is the main target.
[So] Source:Br J Haematol;179(2):323-335, 2017 Oct.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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). Further, these genotypes were associated in an age-dependent manner with lower estimated glomerular filtration rate (eGFR, P = 0·008), proteinuria (P = 0·009) and albuminuria (P < 0·001) but not with other SCD complications. Compared to APOL1 G1/wild type (WT), the APOL1 G2/WT genotype was associated with a lower eGFR (P = 0·04) in an age-dependent manner, suggesting that the G2/WT patients are likely to have worse kidney prognosis. Other genes variants analysed were not associated with SCN or other SCD complications. Our data indicate that APOL1 screening should be considered for the management of SCD patients, including those of non-African-American origin, as those with homozygous or double heterozygous variants are clearly at higher risk of SCN.
[Mh] Termos MeSH primário: Albuminúria
Anemia Falciforme
Apolipoproteínas/genética
Variação Genética
Heterozigoto
Homozigoto
Rim/fisiopatologia
Lipoproteínas HDL/genética
[Mh] Termos MeSH secundário: Adulto
Afroamericanos
Albuminúria/genética
Albuminúria/fisiopatologia
Anemia Falciforme/genética
Anemia Falciforme/fisiopatologia
Apolipoproteína L1
Feminino
Taxa de Filtração Glomerular
Glutationa S-Transferase pi/genética
Glutationa Transferase/genética
Heme Oxigenase-1/genética
Seres Humanos
Masculino
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Lipoproteins, HDL); EC 1.14.14.18 (HMOX1 protein, human); EC 1.14.14.18 (Heme Oxygenase-1); EC 2.5.1.- (glutathione S-transferase T1); EC 2.5.1.18 (GSTP1 protein, human); EC 2.5.1.18 (Glutathione S-Transferase pi); EC 2.5.1.18 (Glutathione Transferase); EC 2.5.1.18 (glutathione S-transferase M1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14842


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[PMID]:28696248
[Au] Autor:Granado D; Müller D; Krausel V; Kruzel-Davila E; Schuberth C; Eschborn M; Wedlich-Söldner R; Skorecki K; Pavenstädt H; Michgehl U; Weide T
[Ad] Endereço:Department of Internal Medicine D and.
[Ti] Título:Intracellular APOL1 Risk Variants Cause Cytotoxicity Accompanied by Energy Depletion.
[So] Source:J Am Soc Nephrol;28(11):3227-3238, 2017 Nov.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Population genetic approaches have uncovered a strong association between kidney diseases and two sequence variants of the gene, called 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. This localization did not depend on the N-terminal signal peptide that mediates APOL1 secretion into the circulation. Additionally, a fraction of these proteins localized to structures surrounding mitochondria. overexpression of G1 or G2 lacking the signal peptide inhibited cell viability, triggered phosphorylation of stress-induced kinases, increased the phosphorylation of AMP-activated protein kinase, reduced intracellular potassium levels, and reduced mitochondrial respiration rates. These findings indicate that functions at intracellular membranes, specifically those of the endoplasmic reticulum and mitochondria, are crucial factors in APOL1 renal risk variant-mediated cell injury.
[Mh] Termos MeSH primário: Apolipoproteínas
Metabolismo Energético
Lipoproteínas HDL
[Mh] Termos MeSH secundário: Apolipoproteína L1
Apolipoproteínas/análise
Apolipoproteínas/genética
Apolipoproteínas/fisiologia
Células Cultivadas
Retículo Endoplasmático/química
Variação Genética
Seres Humanos
Lipoproteínas HDL/análise
Lipoproteínas HDL/genética
Lipoproteínas HDL/fisiologia
Membranas Mitocondriais/química
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Lipoproteins, HDL)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170712
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016111220



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