Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants
Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been repor...
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| Veröffentlicht in: | American journal of human genetics 1996-03, Vol.58 (3), p.551-561 |
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| creator | SHAW, G. M WASSERMAN, C. R LAMMER, E. J O'MALLEY, C. D MURRAY, J. C BASART, A. M TOLAROVA, M. M |
| description | Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked > or =20 cigarettes/d. Analyses controlling for the potential influence of other variables did not reveal substantially different results. Clefting risks were even greater for infants with the TGFa allele previously associated with clefting whose mothers smoked > or =20 cigarettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele. |
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M ; WASSERMAN, C. R ; LAMMER, E. J ; O'MALLEY, C. D ; MURRAY, J. C ; BASART, A. M ; TOLAROVA, M. M</creator><creatorcontrib>SHAW, G. M ; WASSERMAN, C. R ; LAMMER, E. J ; O'MALLEY, C. D ; MURRAY, J. C ; BASART, A. M ; TOLAROVA, M. M</creatorcontrib><description>Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked > or =20 cigarettes/d. Analyses controlling for the potential influence of other variables did not reveal substantially different results. Clefting risks were even greater for infants with the TGFa allele previously associated with clefting whose mothers smoked > or =20 cigarettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8644715</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Adult ; Biological and medical sciences ; California ; Case-Control Studies ; Cleft Lip - etiology ; Cleft Palate - etiology ; Facial bones, jaws, teeth, parodontium: diseases, semeiology ; Female ; Genetic Variation - genetics ; Genotype ; Humans ; Infant, Newborn ; Interviews as Topic ; Male ; Maternal Age ; Maternal Exposure ; Medical sciences ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Paternal Exposure ; Polymorphism, Restriction Fragment Length ; Risk Factors ; Smoking - adverse effects ; Transforming Growth Factor alpha - genetics</subject><ispartof>American journal of human genetics, 1996-03, Vol.58 (3), p.551-561</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914570/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914570/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3001153$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8644715$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SHAW, G. M</creatorcontrib><creatorcontrib>WASSERMAN, C. R</creatorcontrib><creatorcontrib>LAMMER, E. J</creatorcontrib><creatorcontrib>O'MALLEY, C. D</creatorcontrib><creatorcontrib>MURRAY, J. C</creatorcontrib><creatorcontrib>BASART, A. M</creatorcontrib><creatorcontrib>TOLAROVA, M. M</creatorcontrib><title>Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked > or =20 cigarettes/d. Analyses controlling for the potential influence of other variables did not reveal substantially different results. Clefting risks were even greater for infants with the TGFa allele previously associated with clefting whose mothers smoked > or =20 cigarettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>California</subject><subject>Case-Control Studies</subject><subject>Cleft Lip - etiology</subject><subject>Cleft Palate - etiology</subject><subject>Facial bones, jaws, teeth, parodontium: diseases, semeiology</subject><subject>Female</subject><subject>Genetic Variation - genetics</subject><subject>Genotype</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Interviews as Topic</subject><subject>Male</subject><subject>Maternal Age</subject><subject>Maternal Exposure</subject><subject>Medical sciences</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Paternal Exposure</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Risk Factors</subject><subject>Smoking - adverse effects</subject><subject>Transforming Growth Factor alpha - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVUU1LAzEUDKLUWv0JQg7iqQtJs0l2L4IUv6DQi57Xt9lkG93drEmq-O9NsRQ9veHNMMObd4SmlDOZCUH4MZoSQhZZuSjlKToL4Y0QSgvCJmhSiDyXlE_R69o7A8pCh1WnTQxzPILXQ9wtbJtgjBqH3r3boZ1jGBocPQzBON-nDW69-4obnCyi8xl04wZwqweNP8FbGGI4RycGuqAv9nOGXu7vnpeP2Wr98LS8XWUjW9CYyZpoI0ltRA3KEME4b7jhjVASmCmMaqQRJCEAkTNa7FQ1zSkr6pqWjWAzdPPrO27rXjcqneChq0Zve_DflQNb_WcGu6la91nRkuZckmRwvTfw7mOrQ6x6G5TuOhi024aKSsJLJmgSXv5NOkTsO0381Z6HoKAzqS5lw0HGdl_gjP0AgOmEMQ</recordid><startdate>19960301</startdate><enddate>19960301</enddate><creator>SHAW, G. M</creator><creator>WASSERMAN, C. 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M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p321t-7b0ef70bf6bacf06355d5f5d6c7a3f8fcd7f603f8aa64318bacfb14138bb19d63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>California</topic><topic>Case-Control Studies</topic><topic>Cleft Lip - etiology</topic><topic>Cleft Palate - etiology</topic><topic>Facial bones, jaws, teeth, parodontium: diseases, semeiology</topic><topic>Female</topic><topic>Genetic Variation - genetics</topic><topic>Genotype</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Interviews as Topic</topic><topic>Male</topic><topic>Maternal Age</topic><topic>Maternal Exposure</topic><topic>Medical sciences</topic><topic>Non tumoral diseases</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Paternal Exposure</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Risk Factors</topic><topic>Smoking - adverse effects</topic><topic>Transforming Growth Factor alpha - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SHAW, G. M</creatorcontrib><creatorcontrib>WASSERMAN, C. R</creatorcontrib><creatorcontrib>LAMMER, E. J</creatorcontrib><creatorcontrib>O'MALLEY, C. D</creatorcontrib><creatorcontrib>MURRAY, J. C</creatorcontrib><creatorcontrib>BASART, A. M</creatorcontrib><creatorcontrib>TOLAROVA, M. 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M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1996-03-01</date><risdate>1996</risdate><volume>58</volume><issue>3</issue><spage>551</spage><epage>561</epage><pages>551-561</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked > or =20 cigarettes/d. Analyses controlling for the potential influence of other variables did not reveal substantially different results. Clefting risks were even greater for infants with the TGFa allele previously associated with clefting whose mothers smoked > or =20 cigarettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8644715</pmid><tpages>11</tpages></addata></record> |
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| source | MEDLINE; NCBI_PubMed Central（免费）; Elsevier ScienceDirect Journals Complete; Open Access: Cell Press Free Archives; EZB Electronic Journals Library |
| subjects | Adult Biological and medical sciences California Case-Control Studies Cleft Lip - etiology Cleft Palate - etiology Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Genetic Variation - genetics Genotype Humans Infant, Newborn Interviews as Topic Male Maternal Age Maternal Exposure Medical sciences Non tumoral diseases Otorhinolaryngology. Stomatology Paternal Exposure Polymorphism, Restriction Fragment Length Risk Factors Smoking - adverse effects Transforming Growth Factor alpha - genetics |
| title | Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants |
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