Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR)
The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selecti...
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| Veröffentlicht in: | Human genetics 2005-11, Vol.118 (1), p.138-140 |
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| creator | VAN DE VOSSE, Esther ALI, Soegianto DE VISSER, Adriëtte W SURJADI, Charles WIDJAJA, Suwandhi VOLLAARD, Albert M VAN DISSEL, Jaap T |
| description | The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population. |
| doi_str_mv | 10.1007/s00439-005-0005-0 |
| format | Article |
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The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-005-0005-0</identifier><identifier>PMID: 16078047</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Bacterial diseases ; Bacterial diseases of the digestive system and abdomen ; Biological and medical sciences ; Cholera ; Classical genetics, quantitative genetics, hybrids ; Cystic fibrosis ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Fever ; Fibrosis ; Fundamental and applied biological sciences. Psychology ; Genetic aspects ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Health aspects ; Hemoglobin ; Human ; Human bacterial diseases ; Humans ; Hypotheses ; Infections ; Infectious diseases ; Malaria ; Medical sciences ; Mutation ; Polymorphism ; Polymorphism, Genetic ; Salmonella ; Sickle cell anemia ; Tropical diseases ; Typhoid ; Typhoid fever ; Typhoid Fever - genetics</subject><ispartof>Human genetics, 2005-11, Vol.118 (1), p.138-140</ispartof><rights>2006 INIST-CNRS</rights><rights>COPYRIGHT 2005 Springer</rights><rights>Springer-Verlag 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c418t-7fc3b39749b8c549fa520b9181eb6a38a5a561b333ddf95c19ffdb5fe5fa83a13</citedby><cites>FETCH-LOGICAL-c418t-7fc3b39749b8c549fa520b9181eb6a38a5a561b333ddf95c19ffdb5fe5fa83a13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17398166$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16078047$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>VAN DE VOSSE, Esther</creatorcontrib><creatorcontrib>ALI, Soegianto</creatorcontrib><creatorcontrib>DE VISSER, Adriëtte W</creatorcontrib><creatorcontrib>SURJADI, Charles</creatorcontrib><creatorcontrib>WIDJAJA, Suwandhi</creatorcontrib><creatorcontrib>VOLLAARD, Albert M</creatorcontrib><creatorcontrib>VAN DISSEL, Jaap T</creatorcontrib><title>Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR)</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population.</description><subject>Bacterial diseases</subject><subject>Bacterial diseases of the digestive system and abdomen</subject><subject>Biological and medical sciences</subject><subject>Cholera</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Fever</subject><subject>Fibrosis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Health aspects</subject><subject>Hemoglobin</subject><subject>Human</subject><subject>Human bacterial diseases</subject><subject>Humans</subject><subject>Hypotheses</subject><subject>Infections</subject><subject>Infectious diseases</subject><subject>Malaria</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Salmonella</subject><subject>Sickle cell anemia</subject><subject>Tropical diseases</subject><subject>Typhoid</subject><subject>Typhoid fever</subject><subject>Typhoid Fever - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkcFu1DAQhi0EotuFB-CCLCoQPQTsOI7tY7WiUKkSUlvOlu3Yu66SONgOkHNfHC-7UlUOnjn4m5l_5gfgDUafMELsc0KoIaJCiJa3D8_ACjekrnCNyHOwQqRBVcswOwGnKd0jhKmo6UtwglvEOGrYCjzczsnYKXvte58XmAPMy7QLvoPO_rIR-gRVSsF4lW0Hf_u8gwpOoV-GEKedTwP0I8w7C82SsjfQeR1DKlU5qjENdtAll98wdrPJajQWRrude5VDhB83l3c356_AC6f6ZF8f8xr8uPxyt_lWXX__erW5uK5Mg3mumDNEE8EaobmhjXCK1kgLzLHVrSJcUUVbrAkhXecENVg412nqLHWKE4XJGnw49J1i-DnblOXgy_J9XwSGOcmW87ahhBXw3X_gfZjjWLTJGlNaM1auvAZnB2ireiv96ELZ2Ow7ygsmcN0SivYzz59Q5Q7Z_slbNackr25vnrL4wJpywRStk1P0g4qLxEjuDZcHw2XxWqJ_odS8PUqd9WC7x4qjwwV4fwRUMqp3xQ3j0yPHiOC4bclfyVqzPQ</recordid><startdate>20051101</startdate><enddate>20051101</enddate><creator>VAN DE VOSSE, Esther</creator><creator>ALI, Soegianto</creator><creator>DE VISSER, Adriëtte W</creator><creator>SURJADI, Charles</creator><creator>WIDJAJA, Suwandhi</creator><creator>VOLLAARD, Albert M</creator><creator>VAN DISSEL, Jaap T</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>20051101</creationdate><title>Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR)</title><author>VAN DE VOSSE, Esther ; ALI, Soegianto ; DE VISSER, Adriëtte W ; SURJADI, Charles ; WIDJAJA, Suwandhi ; VOLLAARD, Albert M ; VAN DISSEL, Jaap T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c418t-7fc3b39749b8c549fa520b9181eb6a38a5a561b333ddf95c19ffdb5fe5fa83a13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Bacterial diseases</topic><topic>Bacterial diseases of the digestive system and abdomen</topic><topic>Biological and medical sciences</topic><topic>Cholera</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Fever</topic><topic>Fibrosis</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Health aspects</topic><topic>Hemoglobin</topic><topic>Human</topic><topic>Human bacterial diseases</topic><topic>Humans</topic><topic>Hypotheses</topic><topic>Infections</topic><topic>Infectious diseases</topic><topic>Malaria</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>Salmonella</topic><topic>Sickle cell anemia</topic><topic>Tropical diseases</topic><topic>Typhoid</topic><topic>Typhoid fever</topic><topic>Typhoid Fever - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>VAN DE VOSSE, Esther</creatorcontrib><creatorcontrib>ALI, Soegianto</creatorcontrib><creatorcontrib>DE VISSER, Adriëtte W</creatorcontrib><creatorcontrib>SURJADI, Charles</creatorcontrib><creatorcontrib>WIDJAJA, Suwandhi</creatorcontrib><creatorcontrib>VOLLAARD, Albert M</creatorcontrib><creatorcontrib>VAN DISSEL, Jaap T</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>VAN DE VOSSE, Esther</au><au>ALI, Soegianto</au><au>DE VISSER, Adriëtte W</au><au>SURJADI, Charles</au><au>WIDJAJA, Suwandhi</au><au>VOLLAARD, Albert M</au><au>VAN DISSEL, Jaap T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR)</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>2005-11-01</date><risdate>2005</risdate><volume>118</volume><issue>1</issue><spage>138</spage><epage>140</epage><pages>138-140</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>16078047</pmid><doi>10.1007/s00439-005-0005-0</doi><tpages>3</tpages></addata></record> |
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| subjects | Bacterial diseases Bacterial diseases of the digestive system and abdomen Biological and medical sciences Cholera Classical genetics, quantitative genetics, hybrids Cystic fibrosis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Fever Fibrosis Fundamental and applied biological sciences. Psychology Genetic aspects Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Health aspects Hemoglobin Human Human bacterial diseases Humans Hypotheses Infections Infectious diseases Malaria Medical sciences Mutation Polymorphism Polymorphism, Genetic Salmonella Sickle cell anemia Tropical diseases Typhoid Typhoid fever Typhoid Fever - genetics |
| title | Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR) |
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