Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn
Introduction: Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension. Results: PPHN was significantly ( P < 0.05) associated with genetic va...
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| Veröffentlicht in: | Pediatric research 2012-02, Vol.71 (2), p.162-167 |
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| creator | Byers, Heather M. Dagle, John M. Klein, Jonathan M. Ryckman, Kelli K. McDonald, Erin L. Murray, Jeffrey C. Borowski, Kristi S. |
| description | Introduction:
Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension.
Results:
PPHN was significantly (
P
< 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1,
CRHR1
and CRH-binding protein,
CRHBP
. Association with
CRHR1
rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (
BMPR2)
gene.
Discussion:
We describe previously unreported genetic associations between PPHN and
CRHR1
and
CRHBP
. These findings may have implications for further understanding the pathophysiology of PPHN and treatment.
Methods:
We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the
BMPR2
gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests. |
| doi_str_mv | 10.1038/pr.2011.24 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3718388</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>917159358</sourcerecordid><originalsourceid>FETCH-LOGICAL-c443t-9231b72b77b867079963dfe590018c3530369cf8c4acf660deb5154a32f7158d3</originalsourceid><addsrcrecordid>eNptkV9rFDEUxYModlt98QNIXkSozJq_k-SlIItaoSAUFd9CJpPppswmY-6Mpd_eLLtWBZ9C7vnlnpN7EXpByZoSrt9OZc0IpWsmHqEVlZw0RAj1GK0I4bThxugTdApwSwgVUoun6IQxJjVlaoW-f3MlujnmBDgmvLm-vKbYlYAdQPZVCT2-i_MWT6FAhDmkGU_LuMvJlXu8va_lWoP6HucBz9uAU7jrcknP0JPBjRCeH88z9PXD-y-by-bq88dPm3dXjReCz41hnHaKdUp1ulVEGdPyfgjS1LDa8_oZ3ho_aC-cH9qW9KGTVArH2aCo1D0_QxeHvtPS7ULva8DiRjuVuKsJbXbR_qukuLU3-aflimqudW3w-tig5B9LgNnuIvgwji6FvIA1tBoZLvfk-YH0JQOUMDy4UGL3m6h3u9-EZaLCL__O9YD-Hn0FXh0BB96NQ3HJR_jDSSlJK9rKvTlwUKV0E4q9zUtJdab_s_0FcgagJw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>917159358</pqid></control><display><type>article</type><title>Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Byers, Heather M. ; Dagle, John M. ; Klein, Jonathan M. ; Ryckman, Kelli K. ; McDonald, Erin L. ; Murray, Jeffrey C. ; Borowski, Kristi S.</creator><creatorcontrib>Byers, Heather M. ; Dagle, John M. ; Klein, Jonathan M. ; Ryckman, Kelli K. ; McDonald, Erin L. ; Murray, Jeffrey C. ; Borowski, Kristi S.</creatorcontrib><description>Introduction:
Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension.
Results:
PPHN was significantly (
P
< 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1,
CRHR1
and CRH-binding protein,
CRHBP
. Association with
CRHR1
rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (
BMPR2)
gene.
Discussion:
We describe previously unreported genetic associations between PPHN and
CRHR1
and
CRHBP
. These findings may have implications for further understanding the pathophysiology of PPHN and treatment.
Methods:
We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the
BMPR2
gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests.</description><identifier>ISSN: 0031-3998</identifier><identifier>EISSN: 1530-0447</identifier><identifier>DOI: 10.1038/pr.2011.24</identifier><identifier>PMID: 22258127</identifier><identifier>CODEN: PEREBL</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adult ; Biological and medical sciences ; Bone Morphogenetic Protein Receptors, Type II - genetics ; Carrier Proteins - genetics ; Female ; Gene Frequency ; General aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; Gestational Age ; Humans ; Infant, Newborn ; Iowa ; Linear Models ; Linkage Disequilibrium ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Pediatric Surgery ; Pediatrics ; Pedigree ; Persistent Fetal Circulation Syndrome - genetics ; Pneumology ; Polymorphism, Single Nucleotide ; Proportional Hazards Models ; Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases ; Receptors, Corticotropin-Releasing Hormone - genetics ; Retrospective Studies ; translational-investigation ; Young Adult</subject><ispartof>Pediatric research, 2012-02, Vol.71 (2), p.162-167</ispartof><rights>International Pediatric Research Foundation, Inc. 2012</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c443t-9231b72b77b867079963dfe590018c3530369cf8c4acf660deb5154a32f7158d3</citedby><cites>FETCH-LOGICAL-c443t-9231b72b77b867079963dfe590018c3530369cf8c4acf660deb5154a32f7158d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/pr.2011.24$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/pr.2011.24$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25550646$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22258127$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Byers, Heather M.</creatorcontrib><creatorcontrib>Dagle, John M.</creatorcontrib><creatorcontrib>Klein, Jonathan M.</creatorcontrib><creatorcontrib>Ryckman, Kelli K.</creatorcontrib><creatorcontrib>McDonald, Erin L.</creatorcontrib><creatorcontrib>Murray, Jeffrey C.</creatorcontrib><creatorcontrib>Borowski, Kristi S.</creatorcontrib><title>Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><addtitle>Pediatr Res</addtitle><description>Introduction:
Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension.
Results:
PPHN was significantly (
P
< 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1,
CRHR1
and CRH-binding protein,
CRHBP
. Association with
CRHR1
rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (
BMPR2)
gene.
Discussion:
We describe previously unreported genetic associations between PPHN and
CRHR1
and
CRHBP
. These findings may have implications for further understanding the pathophysiology of PPHN and treatment.
Methods:
We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the
BMPR2
gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Bone Morphogenetic Protein Receptors, Type II - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>General aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Gestational Age</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Iowa</subject><subject>Linear Models</subject><subject>Linkage Disequilibrium</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Persistent Fetal Circulation Syndrome - genetics</subject><subject>Pneumology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proportional Hazards Models</subject><subject>Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases</subject><subject>Receptors, Corticotropin-Releasing Hormone - genetics</subject><subject>Retrospective Studies</subject><subject>translational-investigation</subject><subject>Young Adult</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkV9rFDEUxYModlt98QNIXkSozJq_k-SlIItaoSAUFd9CJpPppswmY-6Mpd_eLLtWBZ9C7vnlnpN7EXpByZoSrt9OZc0IpWsmHqEVlZw0RAj1GK0I4bThxugTdApwSwgVUoun6IQxJjVlaoW-f3MlujnmBDgmvLm-vKbYlYAdQPZVCT2-i_MWT6FAhDmkGU_LuMvJlXu8va_lWoP6HucBz9uAU7jrcknP0JPBjRCeH88z9PXD-y-by-bq88dPm3dXjReCz41hnHaKdUp1ulVEGdPyfgjS1LDa8_oZ3ho_aC-cH9qW9KGTVArH2aCo1D0_QxeHvtPS7ULva8DiRjuVuKsJbXbR_qukuLU3-aflimqudW3w-tig5B9LgNnuIvgwji6FvIA1tBoZLvfk-YH0JQOUMDy4UGL3m6h3u9-EZaLCL__O9YD-Hn0FXh0BB96NQ3HJR_jDSSlJK9rKvTlwUKV0E4q9zUtJdab_s_0FcgagJw</recordid><startdate>20120201</startdate><enddate>20120201</enddate><creator>Byers, Heather M.</creator><creator>Dagle, John M.</creator><creator>Klein, Jonathan M.</creator><creator>Ryckman, Kelli K.</creator><creator>McDonald, Erin L.</creator><creator>Murray, Jeffrey C.</creator><creator>Borowski, Kristi S.</creator><general>Nature Publishing Group US</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><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>20120201</creationdate><title>Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn</title><author>Byers, Heather M. ; Dagle, John M. ; Klein, Jonathan M. ; Ryckman, Kelli K. ; McDonald, Erin L. ; Murray, Jeffrey C. ; Borowski, Kristi S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c443t-9231b72b77b867079963dfe590018c3530369cf8c4acf660deb5154a32f7158d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Bone Morphogenetic Protein Receptors, Type II - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>General aspects</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Gestational Age</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Iowa</topic><topic>Linear Models</topic><topic>Linkage Disequilibrium</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Persistent Fetal Circulation Syndrome - genetics</topic><topic>Pneumology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proportional Hazards Models</topic><topic>Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases</topic><topic>Receptors, Corticotropin-Releasing Hormone - genetics</topic><topic>Retrospective Studies</topic><topic>translational-investigation</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Byers, Heather M.</creatorcontrib><creatorcontrib>Dagle, John M.</creatorcontrib><creatorcontrib>Klein, Jonathan M.</creatorcontrib><creatorcontrib>Ryckman, Kelli K.</creatorcontrib><creatorcontrib>McDonald, Erin L.</creatorcontrib><creatorcontrib>Murray, Jeffrey C.</creatorcontrib><creatorcontrib>Borowski, Kristi S.</creatorcontrib><collection>Pascal-Francis</collection><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>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Byers, Heather M.</au><au>Dagle, John M.</au><au>Klein, Jonathan M.</au><au>Ryckman, Kelli K.</au><au>McDonald, Erin L.</au><au>Murray, Jeffrey C.</au><au>Borowski, Kristi S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn</atitle><jtitle>Pediatric research</jtitle><stitle>Pediatr Res</stitle><addtitle>Pediatr Res</addtitle><date>2012-02-01</date><risdate>2012</risdate><volume>71</volume><issue>2</issue><spage>162</spage><epage>167</epage><pages>162-167</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><coden>PEREBL</coden><abstract>Introduction:
Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension.
Results:
PPHN was significantly (
P
< 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1,
CRHR1
and CRH-binding protein,
CRHBP
. Association with
CRHR1
rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (
BMPR2)
gene.
Discussion:
We describe previously unreported genetic associations between PPHN and
CRHR1
and
CRHBP
. These findings may have implications for further understanding the pathophysiology of PPHN and treatment.
Methods:
We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the
BMPR2
gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>22258127</pmid><doi>10.1038/pr.2011.24</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Biological and medical sciences Bone Morphogenetic Protein Receptors, Type II - genetics Carrier Proteins - genetics Female Gene Frequency General aspects Genetic Association Studies Genetic Predisposition to Disease Gestational Age Humans Infant, Newborn Iowa Linear Models Linkage Disequilibrium Male Medical sciences Medicine Medicine & Public Health Pediatric Surgery Pediatrics Pedigree Persistent Fetal Circulation Syndrome - genetics Pneumology Polymorphism, Single Nucleotide Proportional Hazards Models Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases Receptors, Corticotropin-Releasing Hormone - genetics Retrospective Studies translational-investigation Young Adult |
| title | Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn |
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