Genetic influences in gastro-oesophageal reflux disease: a twin study
Background: A number of families have been described which include multiple members with symptomatic, endoscopic, or complicated gastro-oesophageal reflux disease (GORD). First degree relatives of patients with GORD are more likely to suffer with GORD symptoms. These observations raise the possibili...
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| Veröffentlicht in: | Gut 2003-08, Vol.52 (8), p.1085-1089 |
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| description | Background: A number of families have been described which include multiple members with symptomatic, endoscopic, or complicated gastro-oesophageal reflux disease (GORD). First degree relatives of patients with GORD are more likely to suffer with GORD symptoms. These observations raise the possibility of a genetic contribution to the aetiology of GORD. Aims: To determine the relative contribution of genetic factors to GORD by evaluating GORD symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Methods: A total of 4480 unselected twin pairs, identified from a national volunteer twin register, were asked to complete a validated symptom questionnaire. GORD was defined as symptoms of heartburn or acid regurgitation at least weekly during the past year. Results: Replies were obtained from 5032 subjects (56% response rate). A total of 1960 twin pairs were evaluable: 928 MZ pairs (86 male pairs, mean (SD) age 52 (13) (range 19–81) years) and 1032 DZ pairs (71 male pairs, mean age 52 (13) (20–82) years). The prevalence of GORD among both groups of twins was 18%. Casewise concordance rates were significantly higher for MZ than DZ twins (42% v 26%; p |
| doi_str_mv | 10.1136/gut.52.8.1085 |
| format | Article |
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First degree relatives of patients with GORD are more likely to suffer with GORD symptoms. These observations raise the possibility of a genetic contribution to the aetiology of GORD. Aims: To determine the relative contribution of genetic factors to GORD by evaluating GORD symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Methods: A total of 4480 unselected twin pairs, identified from a national volunteer twin register, were asked to complete a validated symptom questionnaire. GORD was defined as symptoms of heartburn or acid regurgitation at least weekly during the past year. Results: Replies were obtained from 5032 subjects (56% response rate). A total of 1960 twin pairs were evaluable: 928 MZ pairs (86 male pairs, mean (SD) age 52 (13) (range 19–81) years) and 1032 DZ pairs (71 male pairs, mean age 52 (13) (20–82) years). The prevalence of GORD among both groups of twins was 18%. Casewise concordance rates were significantly higher for MZ than DZ twins (42% v 26%; p<0.001). Multifactorial liability threshold modelling suggests that additive genetic effects combined with unique environmental factors provide the best model for GORD. Heritability estimates suggest that 43% (95% confidence interval 32–55%) of the variance in liability to GORD is due to additive genetic factors. Conclusions: There is a substantial genetic contribution to the aetiology of GORD.</description><identifier>ISSN: 0017-5749</identifier><identifier>EISSN: 1468-3288</identifier><identifier>EISSN: 1458-3288</identifier><identifier>DOI: 10.1136/gut.52.8.1085</identifier><identifier>PMID: 12865263</identifier><identifier>CODEN: GUTTAK</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><subject>Acids ; Adult ; Aged ; Aged, 80 and over ; Alcohol ; Analysis ; Biological and medical sciences ; BMI ; body mass index ; Causes and theories of causation ; Diseases ; dizygotic ; Drug therapy ; Esophagus ; Family medical history ; Female ; gastro-oesophageal reflux disease ; Gastroenterology. Liver. Pancreas. Abdomen ; Gastroesophageal reflux ; Gastroesophageal Reflux - genetics ; Gastrointestinal diseases ; Genetic aspects ; genetics ; GORD ; heritability ; Hormone replacement therapy ; Humans ; Laboratories ; Liability ; Logistic Models ; LOS ; lower oesophageal sphincter ; Male ; Medical sciences ; Middle Aged ; monozygotic ; Oesophagus ; Other diseases. Semiology ; Phenotype ; Population ; Quantitative genetics ; Questionnaires ; Regression Analysis ; Statistics ; Studies ; TLOSR ; transient lower oesophageal sphincter relaxation ; twin study ; Twins</subject><ispartof>Gut, 2003-08, Vol.52 (8), p.1085-1089</ispartof><rights>Copyright 2003 by Gut</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 by Gut</rights><rights>Copyright © Copyright 2003 by Gut 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b589t-191f020079afeefc6fdd2f528908153c5e17d0d9826f864947ded213706c0423</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1773757/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1773757/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14980095$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12865263$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mohammed, I</creatorcontrib><creatorcontrib>Cherkas, L F</creatorcontrib><creatorcontrib>Riley, S A</creatorcontrib><creatorcontrib>Spector, T D</creatorcontrib><creatorcontrib>Trudgill, N J</creatorcontrib><title>Genetic influences in gastro-oesophageal reflux disease: a twin study</title><title>Gut</title><addtitle>Gut</addtitle><description>Background: A number of families have been described which include multiple members with symptomatic, endoscopic, or complicated gastro-oesophageal reflux disease (GORD). First degree relatives of patients with GORD are more likely to suffer with GORD symptoms. These observations raise the possibility of a genetic contribution to the aetiology of GORD. Aims: To determine the relative contribution of genetic factors to GORD by evaluating GORD symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Methods: A total of 4480 unselected twin pairs, identified from a national volunteer twin register, were asked to complete a validated symptom questionnaire. GORD was defined as symptoms of heartburn or acid regurgitation at least weekly during the past year. Results: Replies were obtained from 5032 subjects (56% response rate). A total of 1960 twin pairs were evaluable: 928 MZ pairs (86 male pairs, mean (SD) age 52 (13) (range 19–81) years) and 1032 DZ pairs (71 male pairs, mean age 52 (13) (20–82) years). The prevalence of GORD among both groups of twins was 18%. Casewise concordance rates were significantly higher for MZ than DZ twins (42% v 26%; p<0.001). Multifactorial liability threshold modelling suggests that additive genetic effects combined with unique environmental factors provide the best model for GORD. Heritability estimates suggest that 43% (95% confidence interval 32–55%) of the variance in liability to GORD is due to additive genetic factors. Conclusions: There is a substantial genetic contribution to the aetiology of GORD.</description><subject>Acids</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alcohol</subject><subject>Analysis</subject><subject>Biological and medical sciences</subject><subject>BMI</subject><subject>body mass index</subject><subject>Causes and theories of causation</subject><subject>Diseases</subject><subject>dizygotic</subject><subject>Drug therapy</subject><subject>Esophagus</subject><subject>Family medical history</subject><subject>Female</subject><subject>gastro-oesophageal reflux disease</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gastroesophageal reflux</subject><subject>Gastroesophageal Reflux - genetics</subject><subject>Gastrointestinal diseases</subject><subject>Genetic aspects</subject><subject>genetics</subject><subject>GORD</subject><subject>heritability</subject><subject>Hormone replacement therapy</subject><subject>Humans</subject><subject>Laboratories</subject><subject>Liability</subject><subject>Logistic Models</subject><subject>LOS</subject><subject>lower oesophageal sphincter</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>monozygotic</subject><subject>Oesophagus</subject><subject>Other diseases. Semiology</subject><subject>Phenotype</subject><subject>Population</subject><subject>Quantitative genetics</subject><subject>Questionnaires</subject><subject>Regression Analysis</subject><subject>Statistics</subject><subject>Studies</subject><subject>TLOSR</subject><subject>transient lower oesophageal sphincter relaxation</subject><subject>twin study</subject><subject>Twins</subject><issn>0017-5749</issn><issn>1468-3288</issn><issn>1458-3288</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc1v1DAQxSMEokvhyBVFQiAuWcZ2_NUDUrWUQlUVqargaHmdSeolGy9xAu1_j5eNuoAqIR9seX5-zzMvy54TmBPCxNtmHOacztWcgOIPshkphSoYVephNgMgsuCy1AfZkxhXAKCUJo-zA0KV4FSwWXZyih0O3uW-q9sRO4cxHfPGxqEPRcAYNte2QdvmPSbgJq98RBvxKLf58DORcRir26fZo9q2EZ9N-2F29eHkavGxOP98-mlxfF4sudJDQTSpgQJIbWvE2om6qmjNqdKgCGeOI5EVVFpRUStR6lJWWFHCJAgHJWWH2bud7GZcrrFy2A29bc2m92vb35pgvfm70vlr04QfhkjJJJdJ4PUk0IfvI8bBrH102La2wzBGI1kpBGM6gS__AVdh7LvU21ZLMwpKqEQVO6qxLZo0wZBcXZMmmsxDh7VP18cEJJSk_G0_v4dPq8K1d_c-mAxcH2JMCdz1SsBs4zcpfsOpUWYbf-Jf_DmgPT3lnYBXE2Cjs23d2875uOdKrQA03xv7OODNXd3234zYjtJcfFmYSzj7Wl5cnpn3iX-z45fr1X_--Au4sNNU</recordid><startdate>20030801</startdate><enddate>20030801</enddate><creator>Mohammed, I</creator><creator>Cherkas, L F</creator><creator>Riley, S A</creator><creator>Spector, T D</creator><creator>Trudgill, N J</creator><general>BMJ Publishing Group Ltd and British Society of Gastroenterology</general><general>BMJ</general><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>Copyright 2003 by Gut</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</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>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</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>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030801</creationdate><title>Genetic influences in gastro-oesophageal reflux disease: a twin study</title><author>Mohammed, I ; Cherkas, L F ; Riley, S A ; Spector, T D ; Trudgill, N J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b589t-191f020079afeefc6fdd2f528908153c5e17d0d9826f864947ded213706c0423</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Acids</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alcohol</topic><topic>Analysis</topic><topic>Biological and medical sciences</topic><topic>BMI</topic><topic>body mass index</topic><topic>Causes and theories of causation</topic><topic>Diseases</topic><topic>dizygotic</topic><topic>Drug therapy</topic><topic>Esophagus</topic><topic>Family medical history</topic><topic>Female</topic><topic>gastro-oesophageal reflux disease</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Gastroesophageal reflux</topic><topic>Gastroesophageal Reflux - genetics</topic><topic>Gastrointestinal diseases</topic><topic>Genetic aspects</topic><topic>genetics</topic><topic>GORD</topic><topic>heritability</topic><topic>Hormone replacement therapy</topic><topic>Humans</topic><topic>Laboratories</topic><topic>Liability</topic><topic>Logistic Models</topic><topic>LOS</topic><topic>lower oesophageal sphincter</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>monozygotic</topic><topic>Oesophagus</topic><topic>Other diseases. Semiology</topic><topic>Phenotype</topic><topic>Population</topic><topic>Quantitative genetics</topic><topic>Questionnaires</topic><topic>Regression Analysis</topic><topic>Statistics</topic><topic>Studies</topic><topic>TLOSR</topic><topic>transient lower oesophageal sphincter relaxation</topic><topic>twin study</topic><topic>Twins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mohammed, I</creatorcontrib><creatorcontrib>Cherkas, L F</creatorcontrib><creatorcontrib>Riley, S A</creatorcontrib><creatorcontrib>Spector, T D</creatorcontrib><creatorcontrib>Trudgill, N 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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM 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>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</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>Science Database</collection><collection>Biological Science Database</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>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Gut</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mohammed, I</au><au>Cherkas, L F</au><au>Riley, S A</au><au>Spector, T D</au><au>Trudgill, N J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic influences in gastro-oesophageal reflux disease: a twin study</atitle><jtitle>Gut</jtitle><addtitle>Gut</addtitle><date>2003-08-01</date><risdate>2003</risdate><volume>52</volume><issue>8</issue><spage>1085</spage><epage>1089</epage><pages>1085-1089</pages><issn>0017-5749</issn><eissn>1468-3288</eissn><eissn>1458-3288</eissn><coden>GUTTAK</coden><abstract>Background: A number of families have been described which include multiple members with symptomatic, endoscopic, or complicated gastro-oesophageal reflux disease (GORD). First degree relatives of patients with GORD are more likely to suffer with GORD symptoms. These observations raise the possibility of a genetic contribution to the aetiology of GORD. Aims: To determine the relative contribution of genetic factors to GORD by evaluating GORD symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Methods: A total of 4480 unselected twin pairs, identified from a national volunteer twin register, were asked to complete a validated symptom questionnaire. GORD was defined as symptoms of heartburn or acid regurgitation at least weekly during the past year. Results: Replies were obtained from 5032 subjects (56% response rate). A total of 1960 twin pairs were evaluable: 928 MZ pairs (86 male pairs, mean (SD) age 52 (13) (range 19–81) years) and 1032 DZ pairs (71 male pairs, mean age 52 (13) (20–82) years). The prevalence of GORD among both groups of twins was 18%. Casewise concordance rates were significantly higher for MZ than DZ twins (42% v 26%; p<0.001). Multifactorial liability threshold modelling suggests that additive genetic effects combined with unique environmental factors provide the best model for GORD. Heritability estimates suggest that 43% (95% confidence interval 32–55%) of the variance in liability to GORD is due to additive genetic factors. Conclusions: There is a substantial genetic contribution to the aetiology of GORD.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and British Society of Gastroenterology</pub><pmid>12865263</pmid><doi>10.1136/gut.52.8.1085</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Acids Adult Aged Aged, 80 and over Alcohol Analysis Biological and medical sciences BMI body mass index Causes and theories of causation Diseases dizygotic Drug therapy Esophagus Family medical history Female gastro-oesophageal reflux disease Gastroenterology. Liver. Pancreas. Abdomen Gastroesophageal reflux Gastroesophageal Reflux - genetics Gastrointestinal diseases Genetic aspects genetics GORD heritability Hormone replacement therapy Humans Laboratories Liability Logistic Models LOS lower oesophageal sphincter Male Medical sciences Middle Aged monozygotic Oesophagus Other diseases. Semiology Phenotype Population Quantitative genetics Questionnaires Regression Analysis Statistics Studies TLOSR transient lower oesophageal sphincter relaxation twin study Twins |
| title | Genetic influences in gastro-oesophageal reflux disease: a twin study |
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