A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
With an overall prevalence of 10–20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries 1 , 2 . We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follo...
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| Veröffentlicht in: | Nature genetics 2007-08, Vol.39 (8), p.995-999 |
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| creator | Buch, Stephan Schafmayer, Clemens Völzke, Henry Becker, Christian Franke, Andre von Eller-Eberstein, Huberta Kluck, Christian Bässmann, Ingelore Brosch, Mario Lammert, Frank Miquel, Juan Francisco Nervi, Flavio Wittig, Michael Rosskopf, Dieter Timm, Birgit Höll, Christine Seeger, Marcus ElSharawy, Abdou Lu, Tim Egberts, Jan Fändrich, Fred Fölsch, Ulrich R Krawczak, Michael Schreiber, Stefan Nürnberg, Peter Tepel, Jürgen Hampe, Jochen |
| description | With an overall prevalence of 10–20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries
1
,
2
. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in
ABCG8
(allelic
P
value
P
CCA
= 4.1 × 10
−9
), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (
P
= 2.8 × 10
−7
) and 167 Chilean subjects (
P
= 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8–2.6,
P
= 1.4 × 10
−14
) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile. |
| doi_str_mv | 10.1038/ng2101 |
| format | Article |
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1
,
2
. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in
ABCG8
(allelic
P
value
P
CCA
= 4.1 × 10
−9
), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (
P
= 2.8 × 10
−7
) and 167 Chilean subjects (
P
= 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8–2.6,
P
= 1.4 × 10
−14
) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng2101</identifier><identifier>PMID: 17632509</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adult ; Aged ; Agriculture ; Animal Genetics and Genomics ; ATP Binding Cassette Transporter, Sub-Family G, Member 8 ; ATP-Binding Cassette Transporters - genetics ; ATP-Binding Cassette Transporters - metabolism ; Biological and medical sciences ; Biological transport ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Cholelithiasis - genetics ; Cholelithiasis - metabolism ; Cholesterol ; Cholesterol - metabolism ; Diagnosis ; Fundamental and applied biological sciences. Psychology ; Gallstones ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene Function ; Genetic aspects ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Genomics ; Health problems ; Human Genetics ; Humans ; letter ; Liver ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Medical sciences ; Middle Aged ; Other diseases. Semiology ; Physiological aspects ; Polymorphism, Single Nucleotide ; Population genetics ; Single nucleotide polymorphisms</subject><ispartof>Nature genetics, 2007-08, Vol.39 (8), p.995-999</ispartof><rights>Springer Nature America, Inc. 2007</rights><rights>2007 INIST-CNRS</rights><rights>COPYRIGHT 2007 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Aug 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c630t-107a03dd212414e39b1450a9747894d68414a749495fd46b4aa410513a61922b3</citedby><cites>FETCH-LOGICAL-c630t-107a03dd212414e39b1450a9747894d68414a749495fd46b4aa410513a61922b3</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/ng2101$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng2101$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18948976$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17632509$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Buch, Stephan</creatorcontrib><creatorcontrib>Schafmayer, Clemens</creatorcontrib><creatorcontrib>Völzke, Henry</creatorcontrib><creatorcontrib>Becker, Christian</creatorcontrib><creatorcontrib>Franke, Andre</creatorcontrib><creatorcontrib>von Eller-Eberstein, Huberta</creatorcontrib><creatorcontrib>Kluck, Christian</creatorcontrib><creatorcontrib>Bässmann, Ingelore</creatorcontrib><creatorcontrib>Brosch, Mario</creatorcontrib><creatorcontrib>Lammert, Frank</creatorcontrib><creatorcontrib>Miquel, Juan Francisco</creatorcontrib><creatorcontrib>Nervi, Flavio</creatorcontrib><creatorcontrib>Wittig, Michael</creatorcontrib><creatorcontrib>Rosskopf, Dieter</creatorcontrib><creatorcontrib>Timm, Birgit</creatorcontrib><creatorcontrib>Höll, Christine</creatorcontrib><creatorcontrib>Seeger, Marcus</creatorcontrib><creatorcontrib>ElSharawy, Abdou</creatorcontrib><creatorcontrib>Lu, Tim</creatorcontrib><creatorcontrib>Egberts, Jan</creatorcontrib><creatorcontrib>Fändrich, Fred</creatorcontrib><creatorcontrib>Fölsch, Ulrich R</creatorcontrib><creatorcontrib>Krawczak, Michael</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Nürnberg, Peter</creatorcontrib><creatorcontrib>Tepel, Jürgen</creatorcontrib><creatorcontrib>Hampe, Jochen</creatorcontrib><title>A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>With an overall prevalence of 10–20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries
1
,
2
. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in
ABCG8
(allelic
P
value
P
CCA
= 4.1 × 10
−9
), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (
P
= 2.8 × 10
−7
) and 167 Chilean subjects (
P
= 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8–2.6,
P
= 1.4 × 10
−14
) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.</description><subject>Adult</subject><subject>Aged</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>ATP Binding Cassette Transporter, Sub-Family G, Member 8</subject><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>ATP-Binding Cassette Transporters - metabolism</subject><subject>Biological and medical sciences</subject><subject>Biological transport</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Cholelithiasis - genetics</subject><subject>Cholelithiasis - metabolism</subject><subject>Cholesterol</subject><subject>Cholesterol - metabolism</subject><subject>Diagnosis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gallstones</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gene Function</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomics</subject><subject>Health problems</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>letter</subject><subject>Liver</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Other diseases. Semiology</subject><subject>Physiological aspects</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population genetics</subject><subject>Single nucleotide polymorphisms</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqNkmuL1DAUhoso7kX9CRKUVfzQNUnTXD6Og64LCwvevpY0TTtZ2mQ2SdH9C_5qzzCDwyyiUkrTk-e8OefkLYpnBJ8TXMm3fqAEkwfFMakZL4kg8iGsMSclwxU_Kk5SusGYMIbl4-KICF7RGqvj4ucCDdaHyZbfXWeRTikYp7MLHiWjPYKgz653NqG8smhl17BpkFmF0aZsYxhRjtqndYjwhxbvlhcSVJBGaU7GrrNr3ejyHeq1ySGiHt7VPIHyoMcx5eAt6lyyOtknxaNej8k-3X1Pi68f3n9Zfiyvri8ul4ur0vAK55JgoXHVdZRQRpitVEtYjbUSTEjFOi4hqgVTTNV9x3jLtGYE16TSnChK2-q0eL3VXcdwO0MXzeSg1HHU3oY5NVKIWgkhMJCv_kpySTCtKvZPkCgBxXIJ4It74E2Yo4d2G0op50qpjdrLLQQjso3zfYARm41isyCSS0prtinu_A8UPJ2dnIG59g7iBwlvDhKAyfZHHvScUnP5-dP_s9ffDtld8yaGlKLtm3V0k453DcHNxpzN1pwAPt81P7eT7fbYzo0AnO0ADeYbezCWcWnPwf1KBfDvG0yw5Qcb91O8d-QvFWT0JA</recordid><startdate>20070801</startdate><enddate>20070801</enddate><creator>Buch, Stephan</creator><creator>Schafmayer, Clemens</creator><creator>Völzke, Henry</creator><creator>Becker, Christian</creator><creator>Franke, Andre</creator><creator>von Eller-Eberstein, Huberta</creator><creator>Kluck, Christian</creator><creator>Bässmann, Ingelore</creator><creator>Brosch, Mario</creator><creator>Lammert, Frank</creator><creator>Miquel, Juan Francisco</creator><creator>Nervi, Flavio</creator><creator>Wittig, Michael</creator><creator>Rosskopf, Dieter</creator><creator>Timm, Birgit</creator><creator>Höll, Christine</creator><creator>Seeger, Marcus</creator><creator>ElSharawy, Abdou</creator><creator>Lu, Tim</creator><creator>Egberts, Jan</creator><creator>Fändrich, Fred</creator><creator>Fölsch, Ulrich R</creator><creator>Krawczak, Michael</creator><creator>Schreiber, Stefan</creator><creator>Nürnberg, Peter</creator><creator>Tepel, Jürgen</creator><creator>Hampe, Jochen</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</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>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070801</creationdate><title>A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease</title><author>Buch, Stephan ; Schafmayer, Clemens ; Völzke, Henry ; Becker, Christian ; Franke, Andre ; von Eller-Eberstein, Huberta ; Kluck, Christian ; Bässmann, Ingelore ; Brosch, Mario ; Lammert, Frank ; Miquel, Juan Francisco ; Nervi, Flavio ; Wittig, Michael ; Rosskopf, Dieter ; Timm, Birgit ; Höll, Christine ; Seeger, Marcus ; ElSharawy, Abdou ; Lu, Tim ; Egberts, Jan ; Fändrich, Fred ; Fölsch, Ulrich R ; Krawczak, Michael ; Schreiber, Stefan ; Nürnberg, Peter ; Tepel, Jürgen ; Hampe, Jochen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c630t-107a03dd212414e39b1450a9747894d68414a749495fd46b4aa410513a61922b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>ATP Binding Cassette Transporter, Sub-Family G, Member 8</topic><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>ATP-Binding Cassette Transporters - metabolism</topic><topic>Biological and medical sciences</topic><topic>Biological transport</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Cholelithiasis - genetics</topic><topic>Cholelithiasis - metabolism</topic><topic>Cholesterol</topic><topic>Cholesterol - metabolism</topic><topic>Diagnosis</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gallstones</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Gene Function</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomics</topic><topic>Health problems</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>letter</topic><topic>Liver</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Other diseases. Semiology</topic><topic>Physiological aspects</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population genetics</topic><topic>Single nucleotide polymorphisms</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Buch, Stephan</creatorcontrib><creatorcontrib>Schafmayer, Clemens</creatorcontrib><creatorcontrib>Völzke, Henry</creatorcontrib><creatorcontrib>Becker, Christian</creatorcontrib><creatorcontrib>Franke, Andre</creatorcontrib><creatorcontrib>von Eller-Eberstein, Huberta</creatorcontrib><creatorcontrib>Kluck, Christian</creatorcontrib><creatorcontrib>Bässmann, Ingelore</creatorcontrib><creatorcontrib>Brosch, Mario</creatorcontrib><creatorcontrib>Lammert, Frank</creatorcontrib><creatorcontrib>Miquel, Juan Francisco</creatorcontrib><creatorcontrib>Nervi, Flavio</creatorcontrib><creatorcontrib>Wittig, Michael</creatorcontrib><creatorcontrib>Rosskopf, Dieter</creatorcontrib><creatorcontrib>Timm, Birgit</creatorcontrib><creatorcontrib>Höll, Christine</creatorcontrib><creatorcontrib>Seeger, Marcus</creatorcontrib><creatorcontrib>ElSharawy, Abdou</creatorcontrib><creatorcontrib>Lu, Tim</creatorcontrib><creatorcontrib>Egberts, Jan</creatorcontrib><creatorcontrib>Fändrich, Fred</creatorcontrib><creatorcontrib>Fölsch, Ulrich R</creatorcontrib><creatorcontrib>Krawczak, Michael</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Nürnberg, Peter</creatorcontrib><creatorcontrib>Tepel, Jürgen</creatorcontrib><creatorcontrib>Hampe, Jochen</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: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS 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>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</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 (ProQuest)</collection><collection>Environmental Sciences and Pollution Management</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>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</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>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</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 Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Buch, Stephan</au><au>Schafmayer, Clemens</au><au>Völzke, Henry</au><au>Becker, Christian</au><au>Franke, Andre</au><au>von Eller-Eberstein, Huberta</au><au>Kluck, Christian</au><au>Bässmann, Ingelore</au><au>Brosch, Mario</au><au>Lammert, Frank</au><au>Miquel, Juan Francisco</au><au>Nervi, Flavio</au><au>Wittig, Michael</au><au>Rosskopf, Dieter</au><au>Timm, Birgit</au><au>Höll, Christine</au><au>Seeger, Marcus</au><au>ElSharawy, Abdou</au><au>Lu, Tim</au><au>Egberts, Jan</au><au>Fändrich, Fred</au><au>Fölsch, Ulrich R</au><au>Krawczak, Michael</au><au>Schreiber, Stefan</au><au>Nürnberg, Peter</au><au>Tepel, Jürgen</au><au>Hampe, Jochen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2007-08-01</date><risdate>2007</risdate><volume>39</volume><issue>8</issue><spage>995</spage><epage>999</epage><pages>995-999</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>With an overall prevalence of 10–20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries
1
,
2
. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in
ABCG8
(allelic
P
value
P
CCA
= 4.1 × 10
−9
), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (
P
= 2.8 × 10
−7
) and 167 Chilean subjects (
P
= 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8–2.6,
P
= 1.4 × 10
−14
) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>17632509</pmid><doi>10.1038/ng2101</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 2007-08, Vol.39 (8), p.995-999 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_877597770 |
| source | MEDLINE; Nature; SpringerLink Journals - AutoHoldings |
| subjects | Adult Aged Agriculture Animal Genetics and Genomics ATP Binding Cassette Transporter, Sub-Family G, Member 8 ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism Biological and medical sciences Biological transport Biomedical and Life Sciences Biomedicine Cancer Research Cholelithiasis - genetics Cholelithiasis - metabolism Cholesterol Cholesterol - metabolism Diagnosis Fundamental and applied biological sciences. Psychology Gallstones Gastroenterology. Liver. Pancreas. Abdomen Gene Function Genetic aspects Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genomics Health problems Human Genetics Humans letter Liver Liver. Biliary tract. Portal circulation. Exocrine pancreas Medical sciences Middle Aged Other diseases. Semiology Physiological aspects Polymorphism, Single Nucleotide Population genetics Single nucleotide polymorphisms |
| title | A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T20%3A44%3A44IST&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=A%20genome-wide%20association%20scan%20identifies%20the%20hepatic%20cholesterol%20transporter%20ABCG8%20as%20a%20susceptibility%20factor%20for%20human%20gallstone%20disease&rft.jtitle=Nature%20genetics&rft.au=Buch,%20Stephan&rft.date=2007-08-01&rft.volume=39&rft.issue=8&rft.spage=995&rft.epage=999&rft.pages=995-999&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng2101&rft_dat=%3Cgale_proqu%3EA186822540%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=222669994&rft_id=info:pmid/17632509&rft_galeid=A186822540&rfr_iscdi=true |