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1. Frequent COL4 mutations in familial microhematuria accompanied by later‐onset Alport nephropathy due to focal segmental glomerulosclerosis

Author

Papazachariou, L., Papagregoriou, G., Hadjipanagi, D., Demosthenous, P., Voskarides, K., Koutsofti, C., Stylianou, K., Ioannou, P., Xydakis, D., Tzanakis, I., Papadaki, A., Kallivretakis, N., Nikolakakis, N., Perysinaki, G., Gale, D.P., Diamantopoulos, A., Goudas, P., Goumenos, D., Soloukides, A., Boletis, I., Melexopoulou, C., Georgaki, E., Frysira, E., Komianou, F., Grekas, D., Paliouras, C., Alivanis, P., Vergoulas, G., Pierides, A., Daphnis, E., and Deltas, C.

Published
2017
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3. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

Author

Papazachariou, L. Papagregoriou, G. Hadjipanagi, D. and Demosthenous, P. Voskarides, K. Koutsofti, C. Stylianou, K. and Ioannou, P. Xydakis, D. Tzanakis, I. Papadaki, A. and Kallivretakis, N. Nikolakakis, N. Perysinaki, G. Gale, D. P. and Diamantopoulos, A. Goudas, P. Goumenos, D. Soloukides, A. Boletis, I. Melexopoulou, C. Georgaki, E. Frysira, E. and Komianou, F. Grekas, D. Paliouras, C. Alivanis, P. and Vergoulas, G. Pierides, A. Daphnis, E. Deltas, C.

Subjects
urologic and male genital diseases
Abstract

Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using next generation sequencing (NGS) for 5 genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, 9 of them novel. In 5 families patients inherited classical AS with hemizygous X-linked COL4A5 mutations. Even more patients developed later-onset Alport-related nephropathy having inherited heterozygous COL4A3/A4 mutations that cause thin basement membranes. Amongst 62 heterozygous or hemizygous patients, 8 (13%) reached ESRD, while 25% of patients with heterozygous COL4A3/A4 mutations, aged >50-years, reached ESRD. In conclusion, COL4A mutations comprise a frequent cause of FMH. Heterozygous COL4A3/A4 mutations predispose to renal function impairment, supporting that thin basement membrane nephropathy is not always benign. The molecular diagnosis is essential for differentiating the X-linked from the autosomal recessive and dominant inheritance. Finally, NGS technology is established as the gold standard for the diagnosis of FMH and associated collagen-IV glomerulopathies, frequently averting the need for invasive renal biopsies.

Published
2017

4. FrequentCOL4mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

Author

Papazachariou, L., primary, Papagregoriou, G., additional, Hadjipanagi, D., additional, Demosthenous, P., additional, Voskarides, K., additional, Koutsofti, C., additional, Stylianou, K., additional, Ioannou, P., additional, Xydakis, D., additional, Tzanakis, I., additional, Papadaki, A., additional, Kallivretakis, N., additional, Nikolakakis, N., additional, Perysinaki, G., additional, Gale, D.P., additional, Diamantopoulos, A., additional, Goudas, P., additional, Goumenos, D., additional, Soloukides, A., additional, Boletis, I., additional, Melexopoulou, C., additional, Georgaki, E., additional, Frysira, E., additional, Komianou, F., additional, Grekas, D., additional, Paliouras, C., additional, Alivanis, P., additional, Vergoulas, G., additional, Pierides, A., additional, Daphnis, E., additional, and Deltas, C., additional

Published
2017
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5. Genetic diseases and molecular genetics

Author

Legendre, C., primary, Cohen, D., additional, Delmas, Y., additional, Feldkamp, T., additional, Fouque, D., additional, Furman, R., additional, Gaber, O., additional, Greenbaum, L., additional, Goodship, T., additional, Haller, H., additional, Herthelius, M., additional, Hourmant, M., additional, Licht, C., additional, Moulin, B., additional, Sheerin, N., additional, Trivelli, A., additional, Bedrosian, C. L., additional, Loirat, C., additional, Legendre, C., additional, Babu, S., additional, Jungraithmayr, T., additional, Lebranchu, Y., additional, Riedl, M., additional, Gaber, A. O., additional, Bedrosian, C., additional, Muus, P., additional, Douglas, K., additional, Remuzzi, G., additional, Kourouklaris, A., additional, Ioannou, K., additional, Athanasiou, I., additional, Demetriou, K., additional, Panagidou, A., additional, Zavros, M., additional, Rodriguez C, N. Y., additional, Blasco, M., additional, Arcal, C., additional, Quintana, L. F., additional, Rodriguez de Cordoba, S., additional, Campistol, J. M., additional, Bachmann, N., additional, Eisenberger, T., additional, Decker, C., additional, Bolz, H. J., additional, Bergmann, C., additional, Pesce, F., additional, Cox, S. N., additional, Serino, G., additional, De Palma, G., additional, Sallustio, F. P., additional, Schena, F., additional, Falchi, M., additional, Pieri, M., additional, Stefanou, C., additional, Zaravinos, A., additional, Erguler, K., additional, Lapathitis, G., additional, Dweep, H., additional, Sticht, C., additional, Anastasiadou, N., additional, Zouvani, I., additional, Voskarides, K., additional, Gretz, N., additional, Deltas, C. C., additional, Ruiz, A., additional, Bonny, O., additional, Sallustio, F., additional, Curci, C., additional, Cox, S., additional, Kemter, E., additional, Sklenak, S., additional, Aigner, B., additional, Wanke, R., additional, Kitzler, T. M., additional, Moskowitz, J. L., additional, Piret, S. E., additional, Lhotta, K., additional, Tashman, A., additional, Velez, E., additional, Thakker, R. V., additional, Kotanko, P., additional, Leierer, J., additional, Rudnicki, M., additional, Perco, P., additional, Koppelstaetter, C., additional, Mayer, G., additional, Sa, M. J. N., additional, Alves, S., additional, Storey, H., additional, Flinter, F., additional, Willems, P. J., additional, Carvalho, F., additional, Oliveira, J., additional, Arsali, M., additional, Papazachariou, L., additional, Demosthenous, P., additional, Lazarou, A., additional, Hadjigavriel, M., additional, Stavrou, C., additional, Yioukkas, L., additional, Deltas, C., additional, Pierides, A., additional, Kkolou, M., additional, Toka, H. R., additional, Dibartolo, S., additional, Lanske, B., additional, Brown, E. M., additional, Pollak, M. R., additional, Familiari, A., additional, Zavan, B., additional, Sanna Cherchi, S., additional, Fabris, A., additional, Cristofaro, R., additional, Gambaro, G., additional, D'Angelo, A., additional, Anglani, F., additional, Toka, H., additional, Mount, D., additional, Pollak, M., additional, Curhan, G., additional, Sengoge, G., additional, Bajari, T., additional, Kupczok, A., additional, von Haeseler, A., additional, Schuster, M., additional, Pfaller, W., additional, Jennings, P., additional, Weltermann, A., additional, Blake, S., additional, Sunder-Plassmann, G., additional, Kerti, A., additional, Csohany, R., additional, Wagner, L., additional, Javorszky, E., additional, Maka, E., additional, Tulassay, T., additional, Tory, K., additional, Kingswood, J., additional, Nikolskaya, N., additional, Mbundi, J., additional, Jozwiak, S., additional, Belousova, E., additional, Frost, M., additional, Kuperman, R., additional, Bebin, M., additional, Korf, B., additional, Flamini, R., additional, Kohrman, M., additional, Sparagana, S., additional, Wu, J., additional, Brechenmacher, T., additional, Stein, K., additional, Bissler, J., additional, Franz, D., additional, Zonnenberg, B., additional, Cheung, W., additional, Wang, J., additional, Lam, D., additional, Budde, K., additional, Ivanitskiy, L., additional, Sowershaewa, E., additional, Krasnova, T., additional, Samokhodskaya, L., additional, Safarikova, M., additional, Jana, R., additional, Jitka, S., additional, Obeidova, L., additional, Kohoutova, M., additional, Tesar, V., additional, Evrengul, H., additional, Ertan, P., additional, Serdaroglu, E., additional, Yuksel, S., additional, Mir, S., additional, Yang n Ergon, E., additional, Berdeli, A., additional, Zawada, A., additional, Rogacev, K., additional, Rotter, B., additional, Winter, P., additional, Fliser, D., additional, Heine, G., additional, Bataille, S., additional, Moal, V., additional, Berland, Y., additional, Daniel, L., additional, Rosado, C., additional, Bueno, E., additional, Fraile, P., additional, Lucas, C., additional, Garcoa-Cosmes, P., additional, Tabernero, J. M., additional, Gonzalez, R., additional, Garcia-Cosmes, P., additional, Silska-Dittmar, M., additional, Zaorska, K., additional, Malke, A., additional, Musielak, A., additional, Ostalska-Nowicka, D., additional, Zachwieja, J., additional, K d r, V., additional, Uz, E., additional, Yigit, A., additional, Altuntas, A., additional, Yigit, B., additional, Inal, S., additional, Sezer, M., additional, Yilmaz, R., additional, Visciano, B., additional, Porto, C., additional, Acampora, E., additional, Russo, R., additional, Riccio, E., additional, Capuano, I., additional, Parenti, G., additional, Pisani, A., additional, Feriozzi, S., additional, Perrin, A., additional, West, M., additional, Nicholls, K., additional, Torras, J., additional, Cybulla, M., additional, Conti, M., additional, Angioi, A., additional, Floris, M., additional, Melis, P., additional, Asunis, A. M., additional, Piras, D., additional, Pani, A., additional, Warnock, D., additional, Guasch, A., additional, Thomas, C., additional, Wanner, C., additional, Campbell, R., additional, Vujkovac, B., additional, Okur, I., additional, Biberoglu, G., additional, Ezgu, F., additional, Tumer, L., additional, Hasanoglu, A., additional, Bicik, Z., additional, Akin, Y., additional, Mumcuoglu, M., additional, Ecder, T., additional, Paliouras, C., additional, Mattas, G., additional, Papagiannis, N., additional, Ntetskas, G., additional, Lamprianou, F., additional, Karvouniaris, N., additional, and Alivanis, P., additional

Published
2013
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6. Genetic diseases

Author

Inazu, T., primary, Kawahara, T., additional, Endou, H., additional, Anzai, N., additional, Sebesta, I., additional, Stiburkova, B., additional, Ichida, K., additional, Hosoyamada, M., additional, Testa, A., additional, Leonardis, D., additional, Catalano, F., additional, Pisano, A., additional, Mafrica, A., additional, Spoto, B., additional, Sanguedolce, M. C., additional, Parlongo, R. M., additional, Tripepi, G., additional, Postorino, M., additional, Enia, G., additional, Zoccali, C., additional, Mallamaci, F., additional, Working Group*, M., additional, Luque de Pablos, A., additional, Garcia-Nieto, V., additional, Lopez-Menchero, J. C., additional, Ramos-Trujillo, E., additional, Gonzalez-Acosta, H., additional, Claverie-Martin, F., additional, Arsali, M., additional, Demosthenous, P., additional, Papazachariou, L., additional, Athanasiou, Y., additional, Voskarides, K., additional, Deltas, C., additional, Pierides, A., additional, Lee, S., additional, Jeong, K. H., additional, Ihm, C., additional, Lee, T. W., additional, Lee, S. H., additional, Moon, J. Y., additional, Wi, J. G., additional, Lee, H. J., additional, Kim, E. Y., additional, Rogacev, K., additional, Friedrich, A., additional, Hummel, B., additional, Berg, J., additional, Zawada, A., additional, Fliser, D., additional, Geisel, J., additional, Heine, G. H., additional, Brabcova, I., additional, Dusilova-Sulkova, S., additional, Krejcik, Z., additional, Stranecky, V., additional, Lipar, K., additional, Marada, T., additional, Stepankova, J., additional, Viklicky, O., additional, Buraczynska, M., additional, Zukowski, P., additional, Zaluska, W., additional, Kuczmaszewska, A., additional, Ksiazek, A., additional, Gaggl, M., additional, Weidner, S., additional, Hofer, M., additional, Kleinert, J., additional, Fauler, G., additional, Wallner, M., additional, Kotanko, P., additional, Sunder-Plassmann, G., additional, Paschke, E., additional, Heguilen, R., additional, Albarracin, L., additional, Politei, J., additional, Liste, A. A., additional, Bernasconi, A., additional, Kusano, E., additional, Russo, R., additional, Pisani, A., additional, Messalli, G., additional, Imbriaco, M., additional, Prikhodina, L., additional, Ryzhkova, O., additional, Polyakov, V., additional, Lipkowska, K., additional, Ostalska-Nowicka, D., additional, Smiech, M., additional, Jaroniec, M., additional, Zaorska, K., additional, Szaflarski, W., additional, Nowicki, M., additional, Zachwieja, J., additional, D'arrigo, G., additional, Moskowitz, J., additional, Piret, S., additional, Tashman, A., additional, Velez, E., additional, Lhotta, K., additional, Thakker, R., additional, Cox, J., additional, Kingswood, J., additional, Mbundi, J., additional, Attard, G., additional, Patel, U., additional, Saggar, A., additional, Elmslie, F., additional, Doyle, T., additional, Jansen, A., additional, Jozwiak, S., additional, Belousova, E., additional, Frost, M., additional, Kuperman, R., additional, Bebin, M., additional, Korf, B., additional, Flamini, R., additional, Kohrman, M., additional, Sparagana, S., additional, Wu, J., additional, Ford, J., additional, Shah, G., additional, Franz, D., additional, Zonnenberg, B., additional, Cheung, W., additional, Urva, S., additional, Wang, J., additional, Kingswood, C., additional, Budde, K., additional, Kofman, T., additional, Narjoz, C., additional, Raimbourg, Q., additional, Roland, M., additional, Loriot, M.-A., additional, Karras, A., additional, Hill, G. S., additional, Jacquot, C., additional, Nochy, D., additional, Thervet, E., additional, Jagodzinski, P., additional, Mostowska, M., additional, Oko, A., additional, Nicolaou, N., additional, Kevelam, S., additional, Lilien, M., additional, Oosterveld, M., additional, Goldschmeding, R., additional, Van Eerde, A., additional, Pfundt, R., additional, Sonnenberg, A., additional, Ter Hal, P., additional, Knoers, N., additional, Renkema, K., additional, Storm, T., additional, Nielsen, R., additional, Christensen, E., additional, Frykholm, C., additional, Tranebjaerg, L., additional, Birn, H., additional, Verroust, P., additional, Neveus, T., additional, Sundelin, B., additional, Hertz, J. M., additional, Holmstrom, G., additional, Ericson, K., additional, Fabris, A., additional, Cremasco, D., additional, Zambon, A., additional, Muraro, E., additional, Alessi, M., additional, D'angelo, A., additional, Anglani, F., additional, Del Prete, D., additional, Alkmim Teixeira, A., additional, Quinto, B. M., additional, Jose Rodrigues, C., additional, Beltrame Ribeiro, A., additional, Batista, M., additional, Kerti, A., additional, Csohany, R., additional, Szabo, A., additional, Arkossy, O., additional, Sallai, P., additional, Moriniere, V., additional, Vega-Warner, V., additional, Lakatos, O., additional, Szabo, T., additional, Reusz, G., additional, Tory, K., additional, Addis, M., additional, Tosetto, E., additional, Meloni, C., additional, Ceol, M., additional, Cristofaro, R., additional, Melis, M. A., additional, Vercelloni, P., additional, Marra, G., additional, Kaniuka, S., additional, Nagel, M., additional, Wolyniec, W., additional, Obolonczyk, L., additional, Swiatkowska-Stodulska, R., additional, Sworczak, K., additional, Rutkowski, B., additional, Chen, C., additional, Jiang, L., additional, Chen, L., additional, Fang, L., additional, Mozes M., M., additional, Boosi, M., additional, Rosivall, L., additional, Kokeny, G., additional, Diana, R., additional, Gross, O., additional, Johanna, T., additional, Rainer, G., additional, Ayse, C., additional, Henrik, H., additional, Gerhard-Anton, M., additional, Nabil, M., additional, Intissar, E., additional, Belge, H., additional, Bloch, J., additional, Dahan, K., additional, Pirson, Y., additional, Vanhille, P., additional, and Demoulin, N., additional

Published
2012
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7. Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Author

Deltas C, Savva I, Voskarides K, Papazachariou L, and Pierides A

Subjects
Collagen Type IV genetics, Disease Progression, Humans, Glomerulonephritis, Membranous genetics, Glomerulonephritis, Membranous pathology, Glomerulosclerosis, Focal Segmental genetics, Glomerulosclerosis, Focal Segmental pathology, Heterozygote, Nephritis, Hereditary genetics, Nephritis, Hereditary pathology
Abstract

Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is caused by hemizygous mutations in the COL4A5 gene, the other entities are caused by mutations in the COL4A3 or COL4A4 genes. The diagnosis of these conditions used to be based on clinical and/or histological findings of renal biopsies, but it is the new molecular genetics approach that revolutionised their investigation and proved particularly instrumental, especially, in many not so clear-cut cases. More recently, the spectrum of COL4N has expanded to include late onset focal segmental glomerulosclerosis (FSGS) that develops on top of TBMN in later life. Also, other reports showed that some patients with a primary diagnosis of familial FSGS proved to have variants in COL4 genes. In the presence of a renal biopsy picture of FSGS and in the absence of either electron microscopy studies or molecular genetic studies that point to TBMN and COL4N, the patient and his family may be mistakenly diagnosed with hereditary FSGS leading to unnecessary further investigations, erroneous family counselling and improper corticosteroid treatment. TBMN is a frequent finding in the general population, and according to several recent reports, it may be the underlying cause and the explanation for many familial and sporadic cases of late-onset FSGS with non-nephrotic proteinuria. This is an important new finding that needs widespread recognition. It is anticipated that the molecular genetic analysis with next generation sequencing will certainly offer timely correct diagnosis., (© 2015 S. Karger AG, Basel.)

Published
2015
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8. Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Author

Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, and Deltas C

Subjects
Adult, Aged, Aging, Base Sequence, Cell Line, Female, High-Throughput Nucleotide Sequencing, Humans, Kidney Failure, Chronic genetics, Kidney Failure, Chronic pathology, Male, Middle Aged, Mutation genetics, Nephritis, Hereditary genetics, Podocytes metabolism, Sequence Analysis, DNA, Unfolded Protein Response genetics, Autoantigens genetics, Collagen Type IV genetics, Glomerular Basement Membrane pathology, Glomerulosclerosis, Focal Segmental genetics, Hematuria genetics
Abstract

Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies.

Published
2014
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9. Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.

Author

Voskarides K, Hadjipanagi D, Papazachariou L, Griffin M, and Panayiotou AG

Subjects
Adult, Aged, Cyprus, Female, Humans, Male, Middle Aged, Ultrasonography, Chromosomes, Human, Y genetics, Coronary Artery Disease diagnostic imaging, Coronary Artery Disease genetics, Genetic Variation, Haplotypes, Plaque, Atherosclerotic diagnostic imaging, Plaque, Atherosclerotic genetics
Abstract

Diseases such as atherosclerosis and coronary artery disease demonstrate disparate population prevalence or present with variable severity in men and women. While the usual explanation points to hormonal status, the role of the Y chromosome has been implicated, but not sufficiently studied. We genotyped six markers of the male-specific region of the Y chromosome, representing the major haplogroups (YAP, G, I, J, K, and R) in 373 male participants of the "Cyprus Study" with ultrasonic data on subclinical atherosclerosis. Of the five major haplogroups identified, two (J and K) accounted for roughly 67% of the Y-chromosome variance among these Greek Cypriot men. Carriers of haplogroup K had a 2.5-fold higher age-adjusted risk for having an atherosclerotic plaque present in any of the four bifurcations scanned, compared to men with other Y-chromosome lineages (OR=2.51; 95% CI=1.18 to 5.33; p=0.017). Carriers of the YAP haplogroup had about 50% less risk for having a plaque in the femoral bifurcation versus the rest (OR=0.46; 95% CI=0.27 to 0.77; p<0.001). We show a possible contribution of the Y chromosome in atherosclerotic phenotypes in men adding to the previous findings for coronary artery disease. Additional studies are warranted as evidence suggests that the Y chromosome could serve as a biomarker for the health status of men.

Published
2014
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10. Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Author

Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, and Deltas C

Subjects
Aged, Alleles, Apolipoprotein L1, Disease Progression, Exons, Female, Haplotypes, Hematuria complications, Humans, Linkage Disequilibrium, Male, Middle Aged, Polymorphism, Single Nucleotide, Proteinuria complications, Proteinuria genetics, Renal Insufficiency, Chronic complications, Renal Insufficiency, Chronic genetics, Apolipoproteins genetics, Epigenesis, Genetic, Hematuria genetics, Lipoproteins, HDL genetics, Molecular Motor Proteins genetics, Myosin Heavy Chains genetics
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.

Published
2013
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