Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS
An allele association study of 19 polymorphisms in surfactant proteins SP‐A1, SP‐A2, SP‐B, and SP‐D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend‐test analysis revealed differences (p
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| Veröffentlicht in: | Clinical genetics 2000-09, Vol.58 (3), p.181-191 |
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| container_title | Clinical genetics |
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| creator | Lin, Z Pearson, C Chinchilli, V Pietschmann, SM Luo, J Pison, U Floros, J |
| description | An allele association study of 19 polymorphisms in surfactant proteins SP‐A1, SP‐A2, SP‐B, and SP‐D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend‐test analysis revealed differences (p |
| doi_str_mv | 10.1034/j.1399-0004.2000.580305.x |
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Trend‐test analysis revealed differences (p<0.05) in the frequency of alleles for some of the microsatellite markers flanking SP‐B, and for one polymorphism (C/T) at nucleotide 1580 [C/T (1580)], within codon 131 (Thr131Ile) of the SP‐B gene. The latter determines the presence or absence of a potential N‐linked glycosylation site. Multivariate analysis revealed significant differences only for the C/T (1580) polymorphism. When the ARDS population was divided into subgroups, idiopathic (i.e., pneumonia, etc.) or exogenic (i.e., trauma, etc.), significant differences were observed for the C/T (1580), for the idiopathic ARDS group, and the frequency of the C/C genotype was increased in this group. Based on the odds ratio, the C allele may be viewed as a susceptibility factor for ARDS. Although the expression of both C and T alleles occurs in heterozygous individuals, it is currently not known whether these alleles correspond to similar levels of SP‐B protein. These data suggest that SP‐B or a linked gene contributes to susceptibility to ARDS.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1034/j.1399-0004.2000.580305.x</identifier><identifier>PMID: 11076040</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Alleles ; Amino Acid Substitution - genetics ; Base Sequence ; Biological and medical sciences ; DNA Primers ; Exons - genetics ; Gene Frequency - genetics ; genetic markers ; Genotype ; Germany ; Glycoproteins - genetics ; Humans ; Infant, Newborn ; Logistic Models ; Lung - metabolism ; Lung - pathology ; lung disease ; Medical sciences ; Microsatellite Repeats - genetics ; Pneumology ; Polymorphism, Genetic - genetics ; Proteolipids - genetics ; Pulmonary Surfactant-Associated Protein A ; Pulmonary Surfactant-Associated Protein D ; Pulmonary Surfactant-Associated Proteins ; Pulmonary Surfactants - genetics ; Respiratory Distress Syndrome, Newborn - genetics ; Respiratory system : syndromes and miscellaneous diseases ; surfactant protein</subject><ispartof>Clinical genetics, 2000-09, Vol.58 (3), p.181-191</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4375-bdf2fb8d4e25d5f91e1982fa37d8a4cd9eae8eb89b5f13cb1af172469682e04e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1034%2Fj.1399-0004.2000.580305.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1034%2Fj.1399-0004.2000.580305.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1506518$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11076040$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lin, Z</creatorcontrib><creatorcontrib>Pearson, C</creatorcontrib><creatorcontrib>Chinchilli, V</creatorcontrib><creatorcontrib>Pietschmann, SM</creatorcontrib><creatorcontrib>Luo, J</creatorcontrib><creatorcontrib>Pison, U</creatorcontrib><creatorcontrib>Floros, J</creatorcontrib><title>Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS</title><title>Clinical genetics</title><addtitle>Clinical Genetics</addtitle><description>An allele association study of 19 polymorphisms in surfactant proteins SP‐A1, SP‐A2, SP‐B, and SP‐D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend‐test analysis revealed differences (p<0.05) in the frequency of alleles for some of the microsatellite markers flanking SP‐B, and for one polymorphism (C/T) at nucleotide 1580 [C/T (1580)], within codon 131 (Thr131Ile) of the SP‐B gene. The latter determines the presence or absence of a potential N‐linked glycosylation site. Multivariate analysis revealed significant differences only for the C/T (1580) polymorphism. When the ARDS population was divided into subgroups, idiopathic (i.e., pneumonia, etc.) or exogenic (i.e., trauma, etc.), significant differences were observed for the C/T (1580), for the idiopathic ARDS group, and the frequency of the C/C genotype was increased in this group. Based on the odds ratio, the C allele may be viewed as a susceptibility factor for ARDS. Although the expression of both C and T alleles occurs in heterozygous individuals, it is currently not known whether these alleles correspond to similar levels of SP‐B protein. These data suggest that SP‐B or a linked gene contributes to susceptibility to ARDS.</description><subject>Alleles</subject><subject>Amino Acid Substitution - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>DNA Primers</subject><subject>Exons - genetics</subject><subject>Gene Frequency - genetics</subject><subject>genetic markers</subject><subject>Genotype</subject><subject>Germany</subject><subject>Glycoproteins - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Logistic Models</subject><subject>Lung - metabolism</subject><subject>Lung - pathology</subject><subject>lung disease</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats - genetics</subject><subject>Pneumology</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Proteolipids - genetics</subject><subject>Pulmonary Surfactant-Associated Protein A</subject><subject>Pulmonary Surfactant-Associated Protein D</subject><subject>Pulmonary Surfactant-Associated Proteins</subject><subject>Pulmonary Surfactants - genetics</subject><subject>Respiratory Distress Syndrome, Newborn - genetics</subject><subject>Respiratory system : syndromes and miscellaneous diseases</subject><subject>surfactant protein</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkF1P2zAUhi20aRTYX5iMNO2KZHbsJDZX6woUBNpQKZrEjeUkx9QlH53divbfz1EquN3NObb8nNdHD0KnlMSUMP59GVMmZUQI4XESapwKwkgabw_Q6O3lAxqFJiNJM3aIjrxfhivLU_kJHVJK8oxwMkJP9129azq3WljfeNwZvNg0usUP99H4rK8_z7Buq_50gZ-hBX-OtfddafXadm0_0EN4vnCU0Zsa8KtdL_B4dvFwgj4aXXv4vO_H6PHqcj65ju5-T28m47uo5GGdqKhMYgpRcUjSKjWSApUiMZrlldC8rCRoEFAIWaSGsrKg2tA84ZnMRAKEAztG34bclev-bsCvVWN9CXWtW-g2XgWYCEKSAMoBLF3nvQOjVs422u0UJaoXq5aq16d6faoXqwaxahtmv-w_2RQNVO-Te5MB-LoHtC91bZxuS-vfuZRkKRUB-zFgr7aG3f8voCbTy-EcIqIhwvo1bN8itHtRWR6Mqj-_pmouZjPObxN1zf4BcAaf6A</recordid><startdate>200009</startdate><enddate>200009</enddate><creator>Lin, Z</creator><creator>Pearson, C</creator><creator>Chinchilli, V</creator><creator>Pietschmann, SM</creator><creator>Luo, J</creator><creator>Pison, U</creator><creator>Floros, J</creator><general>Munksgaard International Publishers</general><general>Blackwell</general><scope>BSCLL</scope><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></search><sort><creationdate>200009</creationdate><title>Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS</title><author>Lin, Z ; Pearson, C ; Chinchilli, V ; Pietschmann, SM ; Luo, J ; Pison, U ; Floros, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4375-bdf2fb8d4e25d5f91e1982fa37d8a4cd9eae8eb89b5f13cb1af172469682e04e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Alleles</topic><topic>Amino Acid Substitution - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>DNA Primers</topic><topic>Exons - genetics</topic><topic>Gene Frequency - genetics</topic><topic>genetic markers</topic><topic>Genotype</topic><topic>Germany</topic><topic>Glycoproteins - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Logistic Models</topic><topic>Lung - metabolism</topic><topic>Lung - pathology</topic><topic>lung disease</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats - genetics</topic><topic>Pneumology</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Proteolipids - genetics</topic><topic>Pulmonary Surfactant-Associated Protein A</topic><topic>Pulmonary Surfactant-Associated Protein D</topic><topic>Pulmonary Surfactant-Associated Proteins</topic><topic>Pulmonary Surfactants - genetics</topic><topic>Respiratory Distress Syndrome, Newborn - genetics</topic><topic>Respiratory system : syndromes and miscellaneous diseases</topic><topic>surfactant protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lin, Z</creatorcontrib><creatorcontrib>Pearson, C</creatorcontrib><creatorcontrib>Chinchilli, V</creatorcontrib><creatorcontrib>Pietschmann, SM</creatorcontrib><creatorcontrib>Luo, J</creatorcontrib><creatorcontrib>Pison, U</creatorcontrib><creatorcontrib>Floros, J</creatorcontrib><collection>Istex</collection><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><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lin, Z</au><au>Pearson, C</au><au>Chinchilli, V</au><au>Pietschmann, SM</au><au>Luo, J</au><au>Pison, U</au><au>Floros, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clinical Genetics</addtitle><date>2000-09</date><risdate>2000</risdate><volume>58</volume><issue>3</issue><spage>181</spage><epage>191</epage><pages>181-191</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>An allele association study of 19 polymorphisms in surfactant proteins SP‐A1, SP‐A2, SP‐B, and SP‐D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend‐test analysis revealed differences (p<0.05) in the frequency of alleles for some of the microsatellite markers flanking SP‐B, and for one polymorphism (C/T) at nucleotide 1580 [C/T (1580)], within codon 131 (Thr131Ile) of the SP‐B gene. The latter determines the presence or absence of a potential N‐linked glycosylation site. Multivariate analysis revealed significant differences only for the C/T (1580) polymorphism. When the ARDS population was divided into subgroups, idiopathic (i.e., pneumonia, etc.) or exogenic (i.e., trauma, etc.), significant differences were observed for the C/T (1580), for the idiopathic ARDS group, and the frequency of the C/C genotype was increased in this group. Based on the odds ratio, the C allele may be viewed as a susceptibility factor for ARDS. Although the expression of both C and T alleles occurs in heterozygous individuals, it is currently not known whether these alleles correspond to similar levels of SP‐B protein. These data suggest that SP‐B or a linked gene contributes to susceptibility to ARDS.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>11076040</pmid><doi>10.1034/j.1399-0004.2000.580305.x</doi><tpages>11</tpages></addata></record> |
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| subjects | Alleles Amino Acid Substitution - genetics Base Sequence Biological and medical sciences DNA Primers Exons - genetics Gene Frequency - genetics genetic markers Genotype Germany Glycoproteins - genetics Humans Infant, Newborn Logistic Models Lung - metabolism Lung - pathology lung disease Medical sciences Microsatellite Repeats - genetics Pneumology Polymorphism, Genetic - genetics Proteolipids - genetics Pulmonary Surfactant-Associated Protein A Pulmonary Surfactant-Associated Protein D Pulmonary Surfactant-Associated Proteins Pulmonary Surfactants - genetics Respiratory Distress Syndrome, Newborn - genetics Respiratory system : syndromes and miscellaneous diseases surfactant protein |
| title | Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS |
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