4 results on '"Daphnis, Eugenios"'
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2. Epistatic role of the MYH9/APOL1 region on familial hematuria genes
- Author
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Voskarides, Konstantinos, Demosthenous, Panayiota, Papazachariou, Louiza, Arsali, Maria, Athanasiou, Yiannis, Zavros, Michalis, Stylianou, Konstantinos G., Xydakis, D., Daphnis, Eugenios K., Gale, D. P., Maxwell, P. H., Elia, Avraam, Pattaro, C., Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
- Subjects
Male ,Pathology ,genetic association ,kidney disease ,genetic risk ,urologic and male genital diseases ,Gastroenterology ,Linkage Disequilibrium ,lcsh:Science ,quantitative analysis ,adult ,thin basement membrane nephropathy ,Molecular Motor Proteins ,allele ,Apolipoprotein L1 ,Proteinuria ,real time polymerase chain reaction ,Nephrology ,Cohort ,Disease Progression ,Medicine ,disease severity ,Lipoproteins, HDL ,marker gene ,medicine.medical_specialty ,phenotype ,Single-nucleotide polymorphism ,glomerulopathy ,Nephropathy ,complement component C3 ,Molecular Genetics ,Genetic Mutation ,Genetics ,Humans ,human ,Renal Insufficiency, Chronic ,genetic epistasis ,Biology ,COL4A3 gene ,Alleles ,Aged ,Hematuria ,Myosin Heavy Chains ,lcsh:R ,medicine.disease ,major clinical study ,gene linkage disequilibrium ,gene function ,Apolipoproteins ,lcsh:Q ,Dialysis ,haplotype ,lcsh:Medicine ,Epigenesis, Genetic ,hereditary hematuria ,APOL1 gene ,single nucleotide polymorphism ,genetic variability ,Molecular Cell Biology ,Chronic Kidney Disease ,gene mutation ,Multidisciplinary ,messenger RNA ,article ,COL4A4 gene ,Exons ,Middle Aged ,biological marker ,female ,CFHR5 gene ,Female ,Research Article ,Clinical Pathology ,sex difference ,Polymorphism, Single Nucleotide ,male ,Glomerulopathy ,Diagnostic Medicine ,Internal medicine ,medicine ,controlled study ,complement component C3 gene ,Alport syndrome ,Genetic Association Studies ,Clinical Genetics ,business.industry ,Mutation Types ,Human Genetics ,gene structure ,myosin heavy chain 9 gene ,hematuria ,Haplotypes ,Genetics of Disease ,CFHR5 nephropathy ,business ,CFHR5 ,Kidney disease - Abstract
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. E1 and S1 MYH9 haplotypes and variant rs11089788 were analyzed for association with disease phenotype. Evidence for association with "Severe" progression in CFHR5 nephropathy was found with MYH9 variant rs11089788 and was confirmed in an independent FH cohort, D (cumulative p value = 0.001, odds ratio = 3.06, recessive model). No association was found with APOL1 gene. Quantitative Real time PCR did not reveal any functional significance for the rs11089788 risk allele. Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients. © 2013 Voskarides et al. 8 Cited By :3
- Published
- 2012
3. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes
- Author
-
Voskarides, Konstantinos, primary, Demosthenous, Panayiota, additional, Papazachariou, Louiza, additional, Arsali, Maria, additional, Athanasiou, Yiannis, additional, Zavros, Michalis, additional, Stylianou, Kostas, additional, Xydakis, Dimitris, additional, Daphnis, Eugenios, additional, Gale, Daniel P., additional, Maxwell, Patrick H., additional, Elia, Avraam, additional, Pattaro, Cristian, additional, Pierides, Alkis, additional, and Deltas, Constantinos, additional
- Published
- 2013
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4. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes.
- Author
-
Voskarides, Konstantinos, Demosthenous, Panayiota, Papazachariou, Louiza, Arsali, Maria, Athanasiou, Yiannis, Zavros, Michalis, Stylianou, Kostas, Xydakis, Dimitris, Daphnis, Eugenios, Gale, Daniel P., Maxwell, Patrick H., Elia, Avraam, Pattaro, Cristian, Pierides, Alkis, and Deltas, Constantinos
- Subjects
FAMILIAL diseases ,HEMATURIA ,PROTEINURIA ,CHRONIC diseases ,KIDNEY diseases ,DISEASE progression ,BIOMARKERS ,MOLECULAR genetics ,PATIENTS - Abstract
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as “Mild” (controls) or “Severe” (cases), based on renal manifestations. E1 and S1 MYH9 haplotypes and variant rs11089788 were analyzed for association with disease phenotype. Evidence for association with “Severe” progression in CFHR5 nephropathy was found with MYH9 variant rs11089788 and was confirmed in an independent FH cohort, D (cumulative p value = 0.001, odds ratio = 3.06, recessive model). No association was found with APOL1 gene. Quantitative Real time PCR did not reveal any functional significance for the rs11089788 risk allele. Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients. [ABSTRACT FROM AUTHOR]
- Published
- 2013
- Full Text
- View/download PDF
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