Epistatic role of the MYH9/APOL1 region on familial hematuria genes
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 stu...
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| creator | 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 Deltas, Constantinos |
| description | 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. |
| doi_str_mv | 10.1371/journal.pone.0057925 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0057925</identifier><identifier>PMID: 23516419</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>African Americans ; Aged ; Alleles ; Alport syndrome ; Analysis ; Apolipoprotein L1 ; Apolipoproteins - genetics ; Biology ; Chronic kidney failure ; Development and progression ; Diabetes ; Disease Progression ; Epigenesis, Genetic ; Epistasis ; Exons ; Female ; Genes ; Genetic aspects ; Genetics ; Genomes ; Haplotypes ; Hematuria ; Hematuria - complications ; Hematuria - genetics ; Hospitals ; Humans ; Kidney diseases ; Kidney transplantation ; Laboratories ; Linkage Disequilibrium ; Lipoproteins, HDL - genetics ; Male ; Medical research ; Medicine ; Middle Aged ; Molecular Motor Proteins - genetics ; Mutation ; Myosin Heavy Chains - genetics ; Nephrology ; Nephropathy ; Patients ; Polymorphism, Single Nucleotide ; Proteinuria ; Proteinuria - complications ; Proteinuria - genetics ; Renal Insufficiency, Chronic - complications ; Renal Insufficiency, Chronic - genetics ; Rodents ; Studies ; Tonna</subject><ispartof>PloS one, 2013-03, Vol.8 (3), p.e57925-e57925</ispartof><rights>COPYRIGHT 2013 Public Library of Science</rights><rights>2013 Voskarides et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Voskarides et al 2013 Voskarides et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-d7097b219be216e0270a931e361f3f872d1e1d144a7aad36efe76a72b2950f413</citedby><cites>FETCH-LOGICAL-c692t-d7097b219be216e0270a931e361f3f872d1e1d144a7aad36efe76a72b2950f413</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597641/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597641/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79569,79570</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23516419$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Voskarides, Konstantinos</creatorcontrib><creatorcontrib>Demosthenous, Panayiota</creatorcontrib><creatorcontrib>Papazachariou, Louiza</creatorcontrib><creatorcontrib>Arsali, Maria</creatorcontrib><creatorcontrib>Athanasiou, Yiannis</creatorcontrib><creatorcontrib>Zavros, Michalis</creatorcontrib><creatorcontrib>Stylianou, Kostas</creatorcontrib><creatorcontrib>Xydakis, Dimitris</creatorcontrib><creatorcontrib>Daphnis, Eugenios</creatorcontrib><creatorcontrib>Gale, Daniel P</creatorcontrib><creatorcontrib>Maxwell, Patrick H</creatorcontrib><creatorcontrib>Elia, Avraam</creatorcontrib><creatorcontrib>Pattaro, Cristian</creatorcontrib><creatorcontrib>Pierides, Alkis</creatorcontrib><creatorcontrib>Deltas, Constantinos</creatorcontrib><title>Epistatic role of the MYH9/APOL1 region on familial hematuria genes</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>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.</description><subject>African Americans</subject><subject>Aged</subject><subject>Alleles</subject><subject>Alport syndrome</subject><subject>Analysis</subject><subject>Apolipoprotein L1</subject><subject>Apolipoproteins - genetics</subject><subject>Biology</subject><subject>Chronic kidney failure</subject><subject>Development and progression</subject><subject>Diabetes</subject><subject>Disease Progression</subject><subject>Epigenesis, Genetic</subject><subject>Epistasis</subject><subject>Exons</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Hematuria</subject><subject>Hematuria - complications</subject><subject>Hematuria - genetics</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Kidney diseases</subject><subject>Kidney transplantation</subject><subject>Laboratories</subject><subject>Linkage Disequilibrium</subject><subject>Lipoproteins, HDL - genetics</subject><subject>Male</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Molecular Motor Proteins - genetics</subject><subject>Mutation</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Nephrology</subject><subject>Nephropathy</subject><subject>Patients</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteinuria</subject><subject>Proteinuria - complications</subject><subject>Proteinuria - genetics</subject><subject>Renal Insufficiency, Chronic - complications</subject><subject>Renal Insufficiency, Chronic - genetics</subject><subject>Rodents</subject><subject>Studies</subject><subject>Tonna</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl2L1DAUhoso7jr6D0QLgujFzOajbZobYRhWd2BkxC_wKqTtSSdL2oxJKvrvzex0l6nshSSQkDznPeckb5I8x2iBKcMX13ZwvTSLve1hgVDOOMkfJOeYUzIvCKIPT_ZnyRPvryNEy6J4nJwRmuMiw_w8WV3utQ8y6Dp11kBqVRp2kH78ccUvlp-2G5w6aLXt0ziV7LTR0qQ76GQYnJZpCz34p8kjJY2HZ-M6S769v_y6uppvth_Wq-VmXhechHnDEGcVwbwCggtAhCHJKQZaYEVVyUiDATc4yySTsqEFKGCFZKQiPEcqw3SWvDzq7o31YuzfC0wpKiPCeCTWR6Kx8lrsne6k-yOs1OLmwLpWSBd7NSAYyvO6xCXGHGVUqZhSYt5UFaNlQ6syar0bsw1VB00NfXDSTESnN73eidb-EjTnrLgp980o4OzPAXwQnfY1GCN7sMOhbswxyw-_Mkte_YPe391ItTI2oHtlY976ICqWGSsJY6RkkVrcQ8XRQKfraBal4_kk4O0kIDIBfodWDt6L9ZfP_89uv0_Z1yfsDqQJO2_NEKKd_BTMjmDtrPcO1N0jYyQOXr99DXHwuhi9HsNenH7QXdCtuelfjlL2Zw</recordid><startdate>20130314</startdate><enddate>20130314</enddate><creator>Voskarides, Konstantinos</creator><creator>Demosthenous, Panayiota</creator><creator>Papazachariou, Louiza</creator><creator>Arsali, Maria</creator><creator>Athanasiou, Yiannis</creator><creator>Zavros, Michalis</creator><creator>Stylianou, Kostas</creator><creator>Xydakis, Dimitris</creator><creator>Daphnis, Eugenios</creator><creator>Gale, Daniel P</creator><creator>Maxwell, Patrick H</creator><creator>Elia, Avraam</creator><creator>Pattaro, Cristian</creator><creator>Pierides, Alkis</creator><creator>Deltas, Constantinos</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PIMPY</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20130314</creationdate><title>Epistatic role of the MYH9/APOL1 region on familial hematuria genes</title><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 ; Deltas, Constantinos</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-d7097b219be216e0270a931e361f3f872d1e1d144a7aad36efe76a72b2950f413</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>African Americans</topic><topic>Aged</topic><topic>Alleles</topic><topic>Alport syndrome</topic><topic>Analysis</topic><topic>Apolipoprotein L1</topic><topic>Apolipoproteins - genetics</topic><topic>Biology</topic><topic>Chronic kidney failure</topic><topic>Development and progression</topic><topic>Diabetes</topic><topic>Disease Progression</topic><topic>Epigenesis, Genetic</topic><topic>Epistasis</topic><topic>Exons</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Hematuria</topic><topic>Hematuria - complications</topic><topic>Hematuria - genetics</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Kidney diseases</topic><topic>Kidney transplantation</topic><topic>Laboratories</topic><topic>Linkage Disequilibrium</topic><topic>Lipoproteins, HDL - genetics</topic><topic>Male</topic><topic>Medical research</topic><topic>Medicine</topic><topic>Middle Aged</topic><topic>Molecular Motor Proteins - genetics</topic><topic>Mutation</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Nephrology</topic><topic>Nephropathy</topic><topic>Patients</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteinuria</topic><topic>Proteinuria - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Voskarides, Konstantinos</au><au>Demosthenous, Panayiota</au><au>Papazachariou, Louiza</au><au>Arsali, Maria</au><au>Athanasiou, Yiannis</au><au>Zavros, Michalis</au><au>Stylianou, Kostas</au><au>Xydakis, Dimitris</au><au>Daphnis, Eugenios</au><au>Gale, Daniel P</au><au>Maxwell, Patrick H</au><au>Elia, Avraam</au><au>Pattaro, Cristian</au><au>Pierides, Alkis</au><au>Deltas, Constantinos</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Epistatic role of the MYH9/APOL1 region on familial hematuria genes</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2013-03-14</date><risdate>2013</risdate><volume>8</volume><issue>3</issue><spage>e57925</spage><epage>e57925</epage><pages>e57925-e57925</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><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><cop>United States</cop><pub>Public Library of Science</pub><pmid>23516419</pmid><doi>10.1371/journal.pone.0057925</doi><tpages>e57925</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2013-03, Vol.8 (3), p.e57925-e57925 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1330895079 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | African Americans Aged Alleles Alport syndrome Analysis Apolipoprotein L1 Apolipoproteins - genetics Biology Chronic kidney failure Development and progression Diabetes Disease Progression Epigenesis, Genetic Epistasis Exons Female Genes Genetic aspects Genetics Genomes Haplotypes Hematuria Hematuria - complications Hematuria - genetics Hospitals Humans Kidney diseases Kidney transplantation Laboratories Linkage Disequilibrium Lipoproteins, HDL - genetics Male Medical research Medicine Middle Aged Molecular Motor Proteins - genetics Mutation Myosin Heavy Chains - genetics Nephrology Nephropathy Patients Polymorphism, Single Nucleotide Proteinuria Proteinuria - complications Proteinuria - genetics Renal Insufficiency, Chronic - complications Renal Insufficiency, Chronic - genetics Rodents Studies Tonna |
| title | Epistatic role of the MYH9/APOL1 region on familial hematuria genes |
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