Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis
Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic varian...
Gespeichert in:
| Veröffentlicht in: | Human genetics 2003-11, Vol.113 (6), p.542-550 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 550 |
|---|---|
| container_issue | 6 |
| container_start_page | 542 |
| container_title | Human genetics |
| container_volume | 113 |
| creator | SELMAN, Moises LIN, Hung-Mo LANG, C. Max PARDO, Annie PHELPS, David S FLOROS, Joanna MONTANO, Martha JENKINS, Audrey L ESTRADA, Andrea ZHENWU LIN GUIRONG WANG DIANGELO, Susan L XIAOXUAN GUO UMSTEAD, Todd M |
| description | Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P |
| doi_str_mv | 10.1007/s00439-003-1015-4 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_71296479</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A791261898</galeid><sourcerecordid>A791261898</sourcerecordid><originalsourceid>FETCH-LOGICAL-c482t-e7703704a323c86a228973e40eb32ddb331eb9861ca17ca9a35418be23055a143</originalsourceid><addsrcrecordid>eNpd0U2LFDEQBuAgijuu_gAv0igKHlpTqaTTOY6LHwsLgqt4DOl0eszSk_QmadF_b4YZWNZTDnmqqKqXkOdA3wGl8n2mlKNqKcUWKIiWPyAb4MhaYBQfkg1FTttOgjwjT3K-odUoJh6TM8Cup9jBhvy8XtNkbDGhNEuKxfnQbBsTxuZDs3PBFW-b3yb5-p8rcKPPS8yuKbHxo4-LKb-qWNZ5H4NJf5vJDylmn5-SR5OZs3t2es_Jj08fv198aa--fr682F61lvestE5KipJygwxt3xnGeiXRceoGZOM4IIIbVN-BNSCtUQYFh35wDKkQpu56Tt4c-9bhb1eXi977bN08m-DimrUEpjouVYUv_4M3cU2hzqYZCIGIUlT06oh2ZnbahymWZOyho95KBayDXvVVvb2nbAzF_Sk7s-asL6-_3bdwtLaeJSc36SX5fb2UBqoPIepjiLqGqA8h6sNOL06jrsPejXcVp9QqeH0CJlszT8kE6_OdE4z3QgH-A_hIoTs</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>215533375</pqid></control><display><type>article</type><title>Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>SELMAN, Moises ; LIN, Hung-Mo ; LANG, C. Max ; PARDO, Annie ; PHELPS, David S ; FLOROS, Joanna ; MONTANO, Martha ; JENKINS, Audrey L ; ESTRADA, Andrea ; ZHENWU LIN ; GUIRONG WANG ; DIANGELO, Susan L ; XIAOXUAN GUO ; UMSTEAD, Todd M</creator><creatorcontrib>SELMAN, Moises ; LIN, Hung-Mo ; LANG, C. Max ; PARDO, Annie ; PHELPS, David S ; FLOROS, Joanna ; MONTANO, Martha ; JENKINS, Audrey L ; ESTRADA, Andrea ; ZHENWU LIN ; GUIRONG WANG ; DIANGELO, Susan L ; XIAOXUAN GUO ; UMSTEAD, Todd M</creatorcontrib><description>Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P</=0.01) in nonsmoker and smoker IPF ( n=84) subgroups, respectively, compared with healthy controls ( n=194). To explore whether a tryptophan (present in 6A(4)) or an arginine (present in other SP-A1 alleles and in all SP-A2 alleles) at amino acid 219 alters protein behavior, two truncated proteins that varied only at amino acid 219 were oxidized by exposure to ozone. Differences in the absorption spectra (310-350 nm) between the two truncated recombinant SP-A proteins were observed both before and after protein oxidation, suggesting allele-specific aggregation differences attributable to amino acid 219. The SP-B SNP B1580_C (odds ratio:7.63; confidence interval:1.64-35.4; P</=0.01), to be a risk factor for IPF smokers, has also been shown to be a risk factor for other pulmonary diseases. The SP-C and SP-D SNPs and SP-B-linked microsatellite markers studied did not associate with IPF. These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-003-1015-4</identifier><identifier>PMID: 13680361</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adult ; Amino acids ; Arginine ; Biological and medical sciences ; Chromosomes ; Classical genetics, quantitative genetics, hybrids ; Cytokines ; Female ; Fundamental and applied biological sciences. Psychology ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic research ; Genetics of eukaryotes. Biological and molecular evolution ; Human ; Humans ; Lung diseases ; Male ; Medical schools ; Medical sciences ; Medicine ; Middle Aged ; Mutation ; Pathogenesis ; Pneumology ; Polymorphism, Single Nucleotide ; Proteins ; Pulmonary fibrosis ; Pulmonary Fibrosis - genetics ; Pulmonary Fibrosis - physiopathology ; Pulmonary Surfactant-Associated Protein A - chemistry ; Pulmonary Surfactant-Associated Protein A - genetics ; Pulmonary Surfactant-Associated Protein A - metabolism ; Pulmonary Surfactant-Associated Protein B - genetics ; Pulmonary Surfactant-Associated Protein C - genetics ; Pulmonary Surfactant-Associated Protein D - genetics ; Respiratory system : syndromes and miscellaneous diseases ; Risk factors ; Single nucleotide polymorphisms ; Smokers ; Spectrophotometry ; Surface active agents ; Surfactants ; University colleges</subject><ispartof>Human genetics, 2003-11, Vol.113 (6), p.542-550</ispartof><rights>2004 INIST-CNRS</rights><rights>COPYRIGHT 2003 Springer</rights><rights>Copyright Springer-Verlag 2003</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c482t-e7703704a323c86a228973e40eb32ddb331eb9861ca17ca9a35418be23055a143</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15248591$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/13680361$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SELMAN, Moises</creatorcontrib><creatorcontrib>LIN, Hung-Mo</creatorcontrib><creatorcontrib>LANG, C. Max</creatorcontrib><creatorcontrib>PARDO, Annie</creatorcontrib><creatorcontrib>PHELPS, David S</creatorcontrib><creatorcontrib>FLOROS, Joanna</creatorcontrib><creatorcontrib>MONTANO, Martha</creatorcontrib><creatorcontrib>JENKINS, Audrey L</creatorcontrib><creatorcontrib>ESTRADA, Andrea</creatorcontrib><creatorcontrib>ZHENWU LIN</creatorcontrib><creatorcontrib>GUIRONG WANG</creatorcontrib><creatorcontrib>DIANGELO, Susan L</creatorcontrib><creatorcontrib>XIAOXUAN GUO</creatorcontrib><creatorcontrib>UMSTEAD, Todd M</creatorcontrib><title>Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P</=0.01) in nonsmoker and smoker IPF ( n=84) subgroups, respectively, compared with healthy controls ( n=194). To explore whether a tryptophan (present in 6A(4)) or an arginine (present in other SP-A1 alleles and in all SP-A2 alleles) at amino acid 219 alters protein behavior, two truncated proteins that varied only at amino acid 219 were oxidized by exposure to ozone. Differences in the absorption spectra (310-350 nm) between the two truncated recombinant SP-A proteins were observed both before and after protein oxidation, suggesting allele-specific aggregation differences attributable to amino acid 219. The SP-B SNP B1580_C (odds ratio:7.63; confidence interval:1.64-35.4; P</=0.01), to be a risk factor for IPF smokers, has also been shown to be a risk factor for other pulmonary diseases. The SP-C and SP-D SNPs and SP-B-linked microsatellite markers studied did not associate with IPF. These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.</description><subject>Adult</subject><subject>Amino acids</subject><subject>Arginine</subject><subject>Biological and medical sciences</subject><subject>Chromosomes</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Cytokines</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic research</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Human</subject><subject>Humans</subject><subject>Lung diseases</subject><subject>Male</subject><subject>Medical schools</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Pathogenesis</subject><subject>Pneumology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Pulmonary fibrosis</subject><subject>Pulmonary Fibrosis - genetics</subject><subject>Pulmonary Fibrosis - physiopathology</subject><subject>Pulmonary Surfactant-Associated Protein A - chemistry</subject><subject>Pulmonary Surfactant-Associated Protein A - genetics</subject><subject>Pulmonary Surfactant-Associated Protein A - metabolism</subject><subject>Pulmonary Surfactant-Associated Protein B - genetics</subject><subject>Pulmonary Surfactant-Associated Protein C - genetics</subject><subject>Pulmonary Surfactant-Associated Protein D - genetics</subject><subject>Respiratory system : syndromes and miscellaneous diseases</subject><subject>Risk factors</subject><subject>Single nucleotide polymorphisms</subject><subject>Smokers</subject><subject>Spectrophotometry</subject><subject>Surface active agents</subject><subject>Surfactants</subject><subject>University colleges</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpd0U2LFDEQBuAgijuu_gAv0igKHlpTqaTTOY6LHwsLgqt4DOl0eszSk_QmadF_b4YZWNZTDnmqqKqXkOdA3wGl8n2mlKNqKcUWKIiWPyAb4MhaYBQfkg1FTttOgjwjT3K-odUoJh6TM8Cup9jBhvy8XtNkbDGhNEuKxfnQbBsTxuZDs3PBFW-b3yb5-p8rcKPPS8yuKbHxo4-LKb-qWNZ5H4NJf5vJDylmn5-SR5OZs3t2es_Jj08fv198aa--fr682F61lvestE5KipJygwxt3xnGeiXRceoGZOM4IIIbVN-BNSCtUQYFh35wDKkQpu56Tt4c-9bhb1eXi977bN08m-DimrUEpjouVYUv_4M3cU2hzqYZCIGIUlT06oh2ZnbahymWZOyho95KBayDXvVVvb2nbAzF_Sk7s-asL6-_3bdwtLaeJSc36SX5fb2UBqoPIepjiLqGqA8h6sNOL06jrsPejXcVp9QqeH0CJlszT8kE6_OdE4z3QgH-A_hIoTs</recordid><startdate>20031101</startdate><enddate>20031101</enddate><creator>SELMAN, Moises</creator><creator>LIN, Hung-Mo</creator><creator>LANG, C. Max</creator><creator>PARDO, Annie</creator><creator>PHELPS, David S</creator><creator>FLOROS, Joanna</creator><creator>MONTANO, Martha</creator><creator>JENKINS, Audrey L</creator><creator>ESTRADA, Andrea</creator><creator>ZHENWU LIN</creator><creator>GUIRONG WANG</creator><creator>DIANGELO, Susan L</creator><creator>XIAOXUAN GUO</creator><creator>UMSTEAD, Todd M</creator><general>Springer</general><general>Springer Nature B.V</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>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20031101</creationdate><title>Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis</title><author>SELMAN, Moises ; LIN, Hung-Mo ; LANG, C. Max ; PARDO, Annie ; PHELPS, David S ; FLOROS, Joanna ; MONTANO, Martha ; JENKINS, Audrey L ; ESTRADA, Andrea ; ZHENWU LIN ; GUIRONG WANG ; DIANGELO, Susan L ; XIAOXUAN GUO ; UMSTEAD, Todd M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c482t-e7703704a323c86a228973e40eb32ddb331eb9861ca17ca9a35418be23055a143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Amino acids</topic><topic>Arginine</topic><topic>Biological and medical sciences</topic><topic>Chromosomes</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Cytokines</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic research</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Human</topic><topic>Humans</topic><topic>Lung diseases</topic><topic>Male</topic><topic>Medical schools</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Pathogenesis</topic><topic>Pneumology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Pulmonary fibrosis</topic><topic>Pulmonary Fibrosis - genetics</topic><topic>Pulmonary Fibrosis - physiopathology</topic><topic>Pulmonary Surfactant-Associated Protein A - chemistry</topic><topic>Pulmonary Surfactant-Associated Protein A - genetics</topic><topic>Pulmonary Surfactant-Associated Protein A - metabolism</topic><topic>Pulmonary Surfactant-Associated Protein B - genetics</topic><topic>Pulmonary Surfactant-Associated Protein C - genetics</topic><topic>Pulmonary Surfactant-Associated Protein D - genetics</topic><topic>Respiratory system : syndromes and miscellaneous diseases</topic><topic>Risk factors</topic><topic>Single nucleotide polymorphisms</topic><topic>Smokers</topic><topic>Spectrophotometry</topic><topic>Surface active agents</topic><topic>Surfactants</topic><topic>University colleges</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SELMAN, Moises</creatorcontrib><creatorcontrib>LIN, Hung-Mo</creatorcontrib><creatorcontrib>LANG, C. Max</creatorcontrib><creatorcontrib>PARDO, Annie</creatorcontrib><creatorcontrib>PHELPS, David S</creatorcontrib><creatorcontrib>FLOROS, Joanna</creatorcontrib><creatorcontrib>MONTANO, Martha</creatorcontrib><creatorcontrib>JENKINS, Audrey L</creatorcontrib><creatorcontrib>ESTRADA, Andrea</creatorcontrib><creatorcontrib>ZHENWU LIN</creatorcontrib><creatorcontrib>GUIRONG WANG</creatorcontrib><creatorcontrib>DIANGELO, Susan L</creatorcontrib><creatorcontrib>XIAOXUAN GUO</creatorcontrib><creatorcontrib>UMSTEAD, Todd M</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>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SELMAN, Moises</au><au>LIN, Hung-Mo</au><au>LANG, C. Max</au><au>PARDO, Annie</au><au>PHELPS, David S</au><au>FLOROS, Joanna</au><au>MONTANO, Martha</au><au>JENKINS, Audrey L</au><au>ESTRADA, Andrea</au><au>ZHENWU LIN</au><au>GUIRONG WANG</au><au>DIANGELO, Susan L</au><au>XIAOXUAN GUO</au><au>UMSTEAD, Todd M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>2003-11-01</date><risdate>2003</risdate><volume>113</volume><issue>6</issue><spage>542</spage><epage>550</epage><pages>542-550</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P</=0.01) in nonsmoker and smoker IPF ( n=84) subgroups, respectively, compared with healthy controls ( n=194). To explore whether a tryptophan (present in 6A(4)) or an arginine (present in other SP-A1 alleles and in all SP-A2 alleles) at amino acid 219 alters protein behavior, two truncated proteins that varied only at amino acid 219 were oxidized by exposure to ozone. Differences in the absorption spectra (310-350 nm) between the two truncated recombinant SP-A proteins were observed both before and after protein oxidation, suggesting allele-specific aggregation differences attributable to amino acid 219. The SP-B SNP B1580_C (odds ratio:7.63; confidence interval:1.64-35.4; P</=0.01), to be a risk factor for IPF smokers, has also been shown to be a risk factor for other pulmonary diseases. The SP-C and SP-D SNPs and SP-B-linked microsatellite markers studied did not associate with IPF. These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>13680361</pmid><doi>10.1007/s00439-003-1015-4</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 2003-11, Vol.113 (6), p.542-550 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71296479 |
| source | MEDLINE; SpringerNature Journals |
| subjects | Adult Amino acids Arginine Biological and medical sciences Chromosomes Classical genetics, quantitative genetics, hybrids Cytokines Female Fundamental and applied biological sciences. Psychology Genes Genetic aspects Genetic Predisposition to Disease Genetic research Genetics of eukaryotes. Biological and molecular evolution Human Humans Lung diseases Male Medical schools Medical sciences Medicine Middle Aged Mutation Pathogenesis Pneumology Polymorphism, Single Nucleotide Proteins Pulmonary fibrosis Pulmonary Fibrosis - genetics Pulmonary Fibrosis - physiopathology Pulmonary Surfactant-Associated Protein A - chemistry Pulmonary Surfactant-Associated Protein A - genetics Pulmonary Surfactant-Associated Protein A - metabolism Pulmonary Surfactant-Associated Protein B - genetics Pulmonary Surfactant-Associated Protein C - genetics Pulmonary Surfactant-Associated Protein D - genetics Respiratory system : syndromes and miscellaneous diseases Risk factors Single nucleotide polymorphisms Smokers Spectrophotometry Surface active agents Surfactants University colleges |
| title | Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-23T18%3A50%3A30IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Surfactant%20protein%20A%20and%20B%20genetic%20variants%20predispose%20to%20idiopathic%20pulmonary%20fibrosis&rft.jtitle=Human%20genetics&rft.au=SELMAN,%20Moises&rft.date=2003-11-01&rft.volume=113&rft.issue=6&rft.spage=542&rft.epage=550&rft.pages=542-550&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/s00439-003-1015-4&rft_dat=%3Cgale_proqu%3EA791261898%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=215533375&rft_id=info:pmid/13680361&rft_galeid=A791261898&rfr_iscdi=true |