The Genetic Architecture of Kidney Disease
The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds...
Gespeichert in:
| Veröffentlicht in: | Clinical journal of the American Society of Nephrology 2020-02, Vol.15 (2), p.268-275 |
|---|---|
| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 275 |
|---|---|
| container_issue | 2 |
| container_start_page | 268 |
| container_title | Clinical journal of the American Society of Nephrology |
| container_volume | 15 |
| creator | Pollak, Martin R Friedman, David J |
| description | The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes. |
| doi_str_mv | 10.2215/CJN.09340819 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7015082</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2348215732</sourcerecordid><originalsourceid>FETCH-LOGICAL-c384t-3d40d095da4fb86e2020bee6c04c3c1f713818c22a8c24b6e8053d4e5b64361e3</originalsourceid><addsrcrecordid>eNpVkMtLw0AQhxdRbK3ePEuOIqbOvpLNRShV66PopYK3JdlM7Eqa1N1E6H9vSh_oZWdhvvnN8BFyTmHIGJU34-fXISRcgKLJAelTKWWYgPw43P8F7ZET778AhOBMHpMep0nCZMz75Go2x2CCFTbWBCNn5rZB07QOg7oIXmxe4Sq4sx5Tj6fkqEhLj2fbOiDvD_ez8WM4fZs8jUfT0HAlmpDnAnJIZJ6KIlMRMmCQIUYGhOGGFjHliirDWNo9IotQgexmUGaR4BFFPiC3m9xlmy0wN1g1Li310tlF6la6Tq3-36nsXH_WPzoGKkGxLuByG-Dq7xZ9oxfWGyzLtMK69ZpxoTpzMV-j1xvUuNp7h8V-DQW91qs7vXqnt8Mv_p62h3c--S-Hg3RX</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2348215732</pqid></control><display><type>article</type><title>The Genetic Architecture of Kidney Disease</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Pollak, Martin R ; Friedman, David J</creator><creatorcontrib>Pollak, Martin R ; Friedman, David J</creatorcontrib><description>The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes.</description><identifier>ISSN: 1555-9041</identifier><identifier>EISSN: 1555-905X</identifier><identifier>DOI: 10.2215/CJN.09340819</identifier><identifier>PMID: 31992573</identifier><language>eng</language><publisher>United States: American Society of Nephrology</publisher><subject>Animals ; Evolution, Molecular ; Genetic Predisposition to Disease ; Genetic Variation ; Genomics ; Genomics of Kidney Disease ; Heredity ; Humans ; Kidney - abnormalities ; Kidney - physiopathology ; Kidney Diseases - diagnosis ; Kidney Diseases - genetics ; Kidney Diseases - physiopathology ; Molecular Diagnostic Techniques ; Pedigree ; Phenotype ; Risk Factors</subject><ispartof>Clinical journal of the American Society of Nephrology, 2020-02, Vol.15 (2), p.268-275</ispartof><rights>Copyright © 2020 by the American Society of Nephrology.</rights><rights>Copyright © 2020 by the American Society of Nephrology 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c384t-3d40d095da4fb86e2020bee6c04c3c1f713818c22a8c24b6e8053d4e5b64361e3</citedby><cites>FETCH-LOGICAL-c384t-3d40d095da4fb86e2020bee6c04c3c1f713818c22a8c24b6e8053d4e5b64361e3</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/PMC7015082/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015082/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31992573$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pollak, Martin R</creatorcontrib><creatorcontrib>Friedman, David J</creatorcontrib><title>The Genetic Architecture of Kidney Disease</title><title>Clinical journal of the American Society of Nephrology</title><addtitle>Clin J Am Soc Nephrol</addtitle><description>The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes.</description><subject>Animals</subject><subject>Evolution, Molecular</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genomics</subject><subject>Genomics of Kidney Disease</subject><subject>Heredity</subject><subject>Humans</subject><subject>Kidney - abnormalities</subject><subject>Kidney - physiopathology</subject><subject>Kidney Diseases - diagnosis</subject><subject>Kidney Diseases - genetics</subject><subject>Kidney Diseases - physiopathology</subject><subject>Molecular Diagnostic Techniques</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Risk Factors</subject><issn>1555-9041</issn><issn>1555-905X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkMtLw0AQhxdRbK3ePEuOIqbOvpLNRShV66PopYK3JdlM7Eqa1N1E6H9vSh_oZWdhvvnN8BFyTmHIGJU34-fXISRcgKLJAelTKWWYgPw43P8F7ZET778AhOBMHpMep0nCZMz75Go2x2CCFTbWBCNn5rZB07QOg7oIXmxe4Sq4sx5Tj6fkqEhLj2fbOiDvD_ez8WM4fZs8jUfT0HAlmpDnAnJIZJ6KIlMRMmCQIUYGhOGGFjHliirDWNo9IotQgexmUGaR4BFFPiC3m9xlmy0wN1g1Li310tlF6la6Tq3-36nsXH_WPzoGKkGxLuByG-Dq7xZ9oxfWGyzLtMK69ZpxoTpzMV-j1xvUuNp7h8V-DQW91qs7vXqnt8Mv_p62h3c--S-Hg3RX</recordid><startdate>20200207</startdate><enddate>20200207</enddate><creator>Pollak, Martin R</creator><creator>Friedman, David J</creator><general>American Society of Nephrology</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20200207</creationdate><title>The Genetic Architecture of Kidney Disease</title><author>Pollak, Martin R ; Friedman, David J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c384t-3d40d095da4fb86e2020bee6c04c3c1f713818c22a8c24b6e8053d4e5b64361e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Animals</topic><topic>Evolution, Molecular</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genomics</topic><topic>Genomics of Kidney Disease</topic><topic>Heredity</topic><topic>Humans</topic><topic>Kidney - abnormalities</topic><topic>Kidney - physiopathology</topic><topic>Kidney Diseases - diagnosis</topic><topic>Kidney Diseases - genetics</topic><topic>Kidney Diseases - physiopathology</topic><topic>Molecular Diagnostic Techniques</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pollak, Martin R</creatorcontrib><creatorcontrib>Friedman, David J</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Clinical journal of the American Society of Nephrology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pollak, Martin R</au><au>Friedman, David J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Genetic Architecture of Kidney Disease</atitle><jtitle>Clinical journal of the American Society of Nephrology</jtitle><addtitle>Clin J Am Soc Nephrol</addtitle><date>2020-02-07</date><risdate>2020</risdate><volume>15</volume><issue>2</issue><spage>268</spage><epage>275</epage><pages>268-275</pages><issn>1555-9041</issn><eissn>1555-905X</eissn><abstract>The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes.</abstract><cop>United States</cop><pub>American Society of Nephrology</pub><pmid>31992573</pmid><doi>10.2215/CJN.09340819</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1555-9041 |
| ispartof | Clinical journal of the American Society of Nephrology, 2020-02, Vol.15 (2), p.268-275 |
| issn | 1555-9041 1555-905X |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7015082 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Animals Evolution, Molecular Genetic Predisposition to Disease Genetic Variation Genomics Genomics of Kidney Disease Heredity Humans Kidney - abnormalities Kidney - physiopathology Kidney Diseases - diagnosis Kidney Diseases - genetics Kidney Diseases - physiopathology Molecular Diagnostic Techniques Pedigree Phenotype Risk Factors |
| title | The Genetic Architecture of Kidney Disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-19T17%3A39%3A30IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20Genetic%20Architecture%20of%20Kidney%20Disease&rft.jtitle=Clinical%20journal%20of%20the%20American%20Society%20of%20Nephrology&rft.au=Pollak,%20Martin%20R&rft.date=2020-02-07&rft.volume=15&rft.issue=2&rft.spage=268&rft.epage=275&rft.pages=268-275&rft.issn=1555-9041&rft.eissn=1555-905X&rft_id=info:doi/10.2215/CJN.09340819&rft_dat=%3Cproquest_pubme%3E2348215732%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2348215732&rft_id=info:pmid/31992573&rfr_iscdi=true |