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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">THE EPITHELIAL SODIUM CHANNEL γ-SUBUNIT GENE (<italic>SCNN1G</italic>
) AND BLOOD PRESSURE: FAMILY-BASED ASSOCIATION, RENAL GENE EXPRESSION AND PHYSIOLOGICAL ANALYSES</title>
<author><name sortKey="Busst, Cara J" sort="Busst, Cara J" uniqKey="Busst C" first="Cara J" last="Büsst">Cara J. Büsst</name>
<affiliation><nlm:aff id="A1">Department of Physiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bloomer, Lisa Ds" sort="Bloomer, Lisa Ds" uniqKey="Bloomer L" first="Lisa Ds" last="Bloomer">Lisa Ds Bloomer</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Scurrah, Katrina J" sort="Scurrah, Katrina J" uniqKey="Scurrah K" first="Katrina J" last="Scurrah">Katrina J. Scurrah</name>
<affiliation><nlm:aff id="A3">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ellis, Justine A" sort="Ellis, Justine A" uniqKey="Ellis J" first="Justine A" last="Ellis">Justine A. Ellis</name>
<affiliation><nlm:aff id="A4">Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Barnes, Timothy" sort="Barnes, Timothy" uniqKey="Barnes T" first="Timothy" last="Barnes">Timothy Barnes</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Charchar, Fadi J" sort="Charchar, Fadi J" uniqKey="Charchar F" first="Fadi J" last="Charchar">Fadi J. Charchar</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">School of Science and Engineering, University of Ballarat, Ballarat, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Braund, Peter" sort="Braund, Peter" uniqKey="Braund P" first="Peter" last="Braund">Peter Braund</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hopkins, Paul N" sort="Hopkins, Paul N" uniqKey="Hopkins P" first="Paul N" last="Hopkins">Paul N. Hopkins</name>
<affiliation><nlm:aff id="A6">Cardiovascular Genetics Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Samani, Nilesh J" sort="Samani, Nilesh J" uniqKey="Samani N" first="Nilesh J" last="Samani">Nilesh J. Samani</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hunt, Steven C" sort="Hunt, Steven C" uniqKey="Hunt S" first="Steven C" last="Hunt">Steven C. Hunt</name>
<affiliation><nlm:aff id="A6">Cardiovascular Genetics Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tomaszewski, Maciej" sort="Tomaszewski, Maciej" uniqKey="Tomaszewski M" first="Maciej" last="Tomaszewski">Maciej Tomaszewski</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harrap, Stephen B" sort="Harrap, Stephen B" uniqKey="Harrap S" first="Stephen B" last="Harrap">Stephen B. Harrap</name>
<affiliation><nlm:aff id="A1">Department of Physiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22006290</idno>
<idno type="pmc">3220739</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220739</idno>
<idno type="RBID">PMC:3220739</idno>
<idno type="doi">10.1161/HYPERTENSIONAHA.111.176370</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">001548</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001548</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">THE EPITHELIAL SODIUM CHANNEL γ-SUBUNIT GENE (<italic>SCNN1G</italic>
) AND BLOOD PRESSURE: FAMILY-BASED ASSOCIATION, RENAL GENE EXPRESSION AND PHYSIOLOGICAL ANALYSES</title>
<author><name sortKey="Busst, Cara J" sort="Busst, Cara J" uniqKey="Busst C" first="Cara J" last="Büsst">Cara J. Büsst</name>
<affiliation><nlm:aff id="A1">Department of Physiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bloomer, Lisa Ds" sort="Bloomer, Lisa Ds" uniqKey="Bloomer L" first="Lisa Ds" last="Bloomer">Lisa Ds Bloomer</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Scurrah, Katrina J" sort="Scurrah, Katrina J" uniqKey="Scurrah K" first="Katrina J" last="Scurrah">Katrina J. Scurrah</name>
<affiliation><nlm:aff id="A3">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ellis, Justine A" sort="Ellis, Justine A" uniqKey="Ellis J" first="Justine A" last="Ellis">Justine A. Ellis</name>
<affiliation><nlm:aff id="A4">Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Barnes, Timothy" sort="Barnes, Timothy" uniqKey="Barnes T" first="Timothy" last="Barnes">Timothy Barnes</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Charchar, Fadi J" sort="Charchar, Fadi J" uniqKey="Charchar F" first="Fadi J" last="Charchar">Fadi J. Charchar</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">School of Science and Engineering, University of Ballarat, Ballarat, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Braund, Peter" sort="Braund, Peter" uniqKey="Braund P" first="Peter" last="Braund">Peter Braund</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hopkins, Paul N" sort="Hopkins, Paul N" uniqKey="Hopkins P" first="Paul N" last="Hopkins">Paul N. Hopkins</name>
<affiliation><nlm:aff id="A6">Cardiovascular Genetics Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Samani, Nilesh J" sort="Samani, Nilesh J" uniqKey="Samani N" first="Nilesh J" last="Samani">Nilesh J. Samani</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hunt, Steven C" sort="Hunt, Steven C" uniqKey="Hunt S" first="Steven C" last="Hunt">Steven C. Hunt</name>
<affiliation><nlm:aff id="A6">Cardiovascular Genetics Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tomaszewski, Maciej" sort="Tomaszewski, Maciej" uniqKey="Tomaszewski M" first="Maciej" last="Tomaszewski">Maciej Tomaszewski</name>
<affiliation><nlm:aff id="A2">Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harrap, Stephen B" sort="Harrap, Stephen B" uniqKey="Harrap S" first="Stephen B" last="Harrap">Stephen B. Harrap</name>
<affiliation><nlm:aff id="A1">Department of Physiology, The University of Melbourne, Melbourne, Australia</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Hypertension</title>
<idno type="ISSN">0194-911X</idno>
<idno type="eISSN">1524-4563</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P2">Variants in the gene encoding the γ-subunit of the epithelial sodium channel (<italic>SCNN1G</italic>
) are associated with both Mendelian and quantitative effects on blood pressure. Here, in four cohorts of 1611 white European families comprising a total of 8199 individuals, we undertook staged testing of candidate SNPs for <italic>SCNN1G</italic>
(supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes as well as expression of <italic>SCNN1G</italic>
in human kidneys. We found that an intronic SNP of <italic>SCNN1G</italic>
(<italic>rs13331086</italic>
) was significantly associated with age-, sex- and BMI-adjusted blood pressure in each of the four populations (<italic>P</italic>
< 0.05). In an inverse variance-weighted meta-analysis of this SNP in all four populations each additional minor allele copy was associated with a 1 mmHg increase in systolic blood pressure and 0.52 mmHg increase in diastolic blood pressure (SE = 0.33, <italic>P</italic>
= 0.002 for SBP; SE = 0.21, <italic>P</italic>
= 0.011 for DBP). The same allele was also associated with higher 12-h overnight urinary potassium excretion (<italic>P</italic>
= 0.04), consistent with increased epithelial sodium channel activity. Renal samples from hypertensive subjects showed a non-significant (<italic>P</italic>
= 0.07) 1.7-fold higher expression of <italic>SCNN1G</italic>
compared with normotensive controls. These data provide genetic and phenotypic evidence in support of a role for a common genetic variant of <italic>SCNN1G</italic>
in blood pressure determination.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">7906255</journal-id>
<journal-id journal-id-type="pubmed-jr-id">4217</journal-id>
<journal-id journal-id-type="nlm-ta">Hypertension</journal-id>
<journal-title-group><journal-title>Hypertension</journal-title>
</journal-title-group>
<issn pub-type="ppub">0194-911X</issn>
<issn pub-type="epub">1524-4563</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22006290</article-id>
<article-id pub-id-type="pmc">3220739</article-id>
<article-id pub-id-type="doi">10.1161/HYPERTENSIONAHA.111.176370</article-id>
<article-id pub-id-type="manuscript">NIHMS332244</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>THE EPITHELIAL SODIUM CHANNEL γ-SUBUNIT GENE (<italic>SCNN1G</italic>
) AND BLOOD PRESSURE: FAMILY-BASED ASSOCIATION, RENAL GENE EXPRESSION AND PHYSIOLOGICAL ANALYSES</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Büsst</surname>
<given-names>Cara J</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="author-notes" rid="FN1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bloomer</surname>
<given-names>Lisa DS</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Scurrah</surname>
<given-names>Katrina J</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ellis</surname>
<given-names>Justine A</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Barnes</surname>
<given-names>Timothy</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Charchar</surname>
<given-names>Fadi J</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Braund</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hopkins</surname>
<given-names>Paul N</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Samani</surname>
<given-names>Nilesh J</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hunt</surname>
<given-names>Steven C</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tomaszewski</surname>
<given-names>Maciej</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Harrap</surname>
<given-names>Stephen B</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Physiology, The University of Melbourne, Melbourne, Australia</aff>
<aff id="A2"><label>2</label>
Department of Cardiovascular Sciences, University of Leicester, Leicester, UK</aff>
<aff id="A3"><label>3</label>
Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, The University of Melbourne, Melbourne, Australia</aff>
<aff id="A4"><label>4</label>
Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia</aff>
<aff id="A5"><label>5</label>
School of Science and Engineering, University of Ballarat, Ballarat, Australia</aff>
<aff id="A6"><label>6</label>
Cardiovascular Genetics Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA</aff>
<aff id="A7"><label>7</label>
Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom</aff>
<author-notes><corresp id="CR1">Corresponding author: Cara Büsst, INSERM U970, 56 rue Leblanc, 75015 Paris, France. Tel: +33 1 53 98 80 74, Fax: + 33 1 53 98 79 52, <email>cara.busst@inserm.fr</email>
</corresp>
<fn fn-type="present-address" id="FN1"><label>*</label>
<p id="P1">Current location: Paris Cardiovascular Research Centre, INSERM U970, Paris, France.</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>29</day>
<month>10</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epub"><day>17</day>
<month>10</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><month>12</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>12</month>
<year>2012</year>
</pub-date>
<volume>58</volume>
<issue>6</issue>
<fpage>1073</fpage>
<lpage>1078</lpage>
<abstract><p id="P2">Variants in the gene encoding the γ-subunit of the epithelial sodium channel (<italic>SCNN1G</italic>
) are associated with both Mendelian and quantitative effects on blood pressure. Here, in four cohorts of 1611 white European families comprising a total of 8199 individuals, we undertook staged testing of candidate SNPs for <italic>SCNN1G</italic>
(supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes as well as expression of <italic>SCNN1G</italic>
in human kidneys. We found that an intronic SNP of <italic>SCNN1G</italic>
(<italic>rs13331086</italic>
) was significantly associated with age-, sex- and BMI-adjusted blood pressure in each of the four populations (<italic>P</italic>
< 0.05). In an inverse variance-weighted meta-analysis of this SNP in all four populations each additional minor allele copy was associated with a 1 mmHg increase in systolic blood pressure and 0.52 mmHg increase in diastolic blood pressure (SE = 0.33, <italic>P</italic>
= 0.002 for SBP; SE = 0.21, <italic>P</italic>
= 0.011 for DBP). The same allele was also associated with higher 12-h overnight urinary potassium excretion (<italic>P</italic>
= 0.04), consistent with increased epithelial sodium channel activity. Renal samples from hypertensive subjects showed a non-significant (<italic>P</italic>
= 0.07) 1.7-fold higher expression of <italic>SCNN1G</italic>
compared with normotensive controls. These data provide genetic and phenotypic evidence in support of a role for a common genetic variant of <italic>SCNN1G</italic>
in blood pressure determination.</p>
</abstract>
<kwd-group><kwd>blood pressure</kwd>
<kwd>genetics</kwd>
<kwd>meta-analysis</kwd>
<kwd>risk factors</kwd>
<kwd>cardiovascular diseases</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Heart, Lung, and Blood Institute : NHLBI</funding-source>
<award-id>R01 HL021088-14 || HL</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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