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D. Juriloff, M. Harris, D. Mah (1996)
The clf1 gene maps to a 2- to 3-cM region of distal mouse Chromosome 11Mammalian Genome, 7
F. Dudbridge (2008)
Likelihood-Based Association Analysis for Nuclear Families and Unrelated Subjects with Missing Genotype DataHuman Heredity, 66
G. Millicovsky, M. Johnston (1981)
Maternal hyperoxia greatly reduces the incidence of phenytoin-induced cleft lip and palate in A/J mice.Science, 212 4495
G. Wehby, A. Jugessur, J. Murray, Lina Moreno, A. Wilcox, R. Lie (2011)
Genes as instruments for studying risk behavior effects: an application to maternal smoking and orofacial cleftsHealth Services and Outcomes Research Methodology, 11
A. Jugessur, M. Shi, H. Gjessing, R. Lie, A. Wilcox, C. Weinberg, K. Christensen, A. Boyles, S. Daack-Hirsch, Truc Trung, C. Bille, A. Lidral, J. Murray (2009)
Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from ScandinaviaPLoS ONE, 4
M. Shi, K. Christensen, C. Weinberg, P. Romitti, L. Bathum, A. Lozada, R. Morris, M. Lovett, J. Murray (2007)
Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.American journal of human genetics, 80 1
E. Mangold, K. Ludwig, S. Birnbaum, Carlotta Baluardo, M. Ferrian, S. Herms, H. Reutter, Nilma Assis, Taofik Chawa, M. Mattheisen, M. Steffens, S. Barth, N. Kluck, A. Paul, J. Becker, Carola Lauster, G. Schmidt, B. Braumann, M. Scheer, R. Reich, A. Hemprich, S. Pötzsch, B. Blaumeiser, S. Moebus, M. Krawczak, S. Schreiber, T. Meitinger, H. Wichmann, R. Steegers-Theunissen, F. Kramer, S. Cichon, P. Propping, T. Wienker, M. Knapp, M. Rubini, P. Mossey, P. Hoffmann, M. Nöthen (2010)
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palateNature Genetics, 42
G. Wehby, Cynthia Cassell (2010)
The impact of orofacial clefts on quality of life and healthcare use and costs.Oral diseases, 16 1
D. Clayton, P. McKeigue (2001)
Epidemiological methods for studying genes and environmental factors in complex diseasesThe Lancet, 358
R. Strauss (1999)
The organization and delivery of craniofacial health services: the state of the art.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 36 3
C. Robert (2012)
Large-Scale Inference: Empirical Bayes Methods for Estimation, Testing, and PredictionCHANCE, 25
Huiping Zhu, Susan Kartiko, R. Finnell (2009)
Importance of gene–environment interactions in the etiology of selected birth defectsClinical Genetics, 75
L. Pickell, K. Brown, Deqiang Li, Xiao-ling Wang, L. Deng, Qing Wu, J. Selhub, Li Luo, L. Jerome-Majewska, R. Rozen (2011)
High intake of folic acid disrupts embryonic development in mice.Birth defects research. Part A, Clinical and molecular teratology, 91 1
M. Khoury, S. Wacholder (2008)
Invited commentary: from genome-wide association studies to gene-environment-wide interaction studies--challenges and opportunities.American journal of epidemiology, 169 2
M. Marazita, J. Murray, A. Lidral, M. Arcos-Burgos, M. Cooper, T. Goldstein, B. Maher, S. Daack-Hirsch, R. Schultz, M. Mansilla, L. Field, You-e Liu, N. Prescott, S. Malcolm, R. Winter, A. Ray, Lina Moreno, Consuelo Valencia, K. Neiswanger, D. Wyszynski, J. Bailey‐Wilson, Hasan Albacha-Hejazi, Terri Beaty, I. Mcintosh, J. Hetmanski, G. Tunçbilek, M. Edwards, L. Harkin, R. Scott, L. Roddick (2004)
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.American journal of human genetics, 75 2
M. Khoury, Terri Beaty, Shih‐Jen Hwang (1995)
Detection of genotype-environment interaction in case-control studies of birth defects: how big a sample size?Teratology, 51 5
R. Lie, A. Wilcox, Jack Taylor, H. Gjessing, O. Saugstad, F. Aabyholm, H. Vindenes (2008)
Maternal Smoking and Oral Clefts: The Role of Detoxification Pathway GenesEpidemiology, 19
Duncan Thomas (2010)
Gene–environment-wide association studies: emerging approachesNature Reviews Genetics, 11
R. Badovinac, M. Werler, Paige Williams, K. Kelsey, C. Hayes (2007)
Folic acid-containing supplement consumption during pregnancy and risk for oral clefts: a meta-analysis.Birth defects research. Part A, Clinical and molecular teratology, 79 1
F. Rahimov, A. Jugessur, J. Murray (2012)
Genetics of Nonsyndromic Orofacial CleftsThe Cleft Palate-Craniofacial Journal, 49
Bart Bliek, R. Steegers-Theunissen, L. Blok, Lindy Santegoets, J. Lindemans, B. Oostra, E. Steegers, A. Klein (2008)
Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man.Birth defects research. Part A, Clinical and molecular teratology, 82 9
A. Goldstein, Marie-Gabrielle Dondon, N. Andrieu (2006)
Unconditional analyses can increase efficiency in assessing gene-environment interaction of the case-combined-control design.International journal of epidemiology, 35 4
V. Diewert (1985)
Development of human craniofacial morphology during the late embryonic and early fetal periods.American journal of orthodontics, 88 1
M. Kendall (1937)
Statistical Methods for Research WorkersNature, 139
S. Grant, S. Grant, Kai Wang, Haitao Zhang, W. Glaberson, K. Annaiah, Cecilia Kim, J. Bradfield, J. Glessner, Kelly Thomas, M. Garris, E. Frackelton, F. Otieno, R. Chiavacci, H. Nah, R. Kirschner, H. Hakonarson, H. Hakonarson (2009)
A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.The Journal of pediatrics, 155 6
A. Johansen, A. Wilcox, R. Lie, L. Andersen, C. Drevon (2009)
Maternal consumption of coffee and caffeine-containing beverages and oral clefts: a population-based case-control study in Norway.American journal of epidemiology, 169 10
N. Nagelkerke, B. Hoebee, P. Teunis, T. Kimman (2004)
Combining the transmission disequilibrium test and case–control methodology using generalized logistic regressionEuropean Journal of Human Genetics, 12
D. Grosen, C. Bille, Inge Petersen, A. Skytthe, J. Hjelmborg, J. Pedersen, J. Murray, K. Christensen (2011)
Risk of Oral Clefts in TwinsEpidemiology, 22
Qi Chen, M. Kamboh (2006)
Complete DNA Sequence Variation in the Apolipoprotein H (β2‐glycoprotein I) Gene and Identification of Informative SNPsAnnals of Human Genetics, 70
A. Wilcox, R. Lie, K. Solvoll, Jack Taylor, D. Mcconnaughey, F. Åbyholm, H. Vindenes, S. Vollset, Christian Drevon (2007)
Folic acid supplements and risk of facial clefts: national population based case-control studyBDJ, 202
(2002)
Environmental risk factors and oral clefts
T. Beaty, I. Ruczinski, J. Murray, M. Marazita, R. Munger, J. Hetmanski, Tanda Murray, R. Redett, M. Fallin, K. Liang, Tao Wu, P. Patel, S. Jin, Tianyang Zhang, H. Schwender, Y. Wu-Chou, P. Chen, S. Chong, F. Cheah, V. Yeow, X. Ye, Hong Wang, Shangzhi Huang, E. Jabs, B. Shi, A. Wilcox, R. Lie, S. Jee, K. Christensen, K. Doheny, E. Pugh, H. Ling, A. Scott (2011)
Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palateGenetic Epidemiology, 35
S. Birnbaum, K. Ludwig, H. Reutter, S. Herms, M. Steffens, M. Rubini, Carlotta Baluardo, M. Ferrian, Nilma Assis, M. Alblas, S. Barth, J. Freudenberg, Carola Lauster, G. Schmidt, M. Scheer, B. Braumann, S. Bergé, R. Reich, F. Schiefke, A. Hemprich, S. Pötzsch, R. Steegers-Theunissen, B. Pötzsch, S. Moebus, B. Horsthemke, F. Kramer, T. Wienker, P. Mossey, P. Propping, S. Cichon, P. Hoffmann, M. Knapp, M. Nöthen, E. Mangold (2009)
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24Nature Genetics, 41
(2002)
Mapping studies in animal models
S. Vermeulen, M. Shi, C. Weinberg, D. Umbach (2009)
A hybrid design: case‐parent triads supplemented by control‐mother dyadsGenetic Epidemiology, 33
A. Johansen, R. Lie, A. Wilcox, L. Andersen, C. Drevon (2008)
Maternal dietary intake of vitamin A and risk of orofacial clefts: a population-based case-control study in Norway.American journal of epidemiology, 167 10
M. King, Jelena Arnold, A. Shanske, B. Morrow (2006)
T‐genes and limb bud developmentAmerican Journal of Medical Genetics Part A, 140A
M. Shi, D. Umbach, S. Vermeulen, C. Weinberg (2008)
Making the most of case-mother/control-mother studies.American journal of epidemiology, 168 5
N. Chatterjee, Z. Kalaylioglu, Ray Carroll (2005)
Exploiting gene‐environment independence in family‐based case‐control studies: Increased power for detecting associations, interactions and joint effectsGenetic Epidemiology, 28
R. Kazma, M. C. Babron, E. Génin (2011)
Genetic association and gene‐environment interaction: A new method for overcoming the lack of exposure information in controls, 173
C. Weinberg (2009)
Less is more, except when less is less: Studying joint effects.Genomics, 93 1
A. Jugessur, R. Lie, A. Wilcox, J. Murray, Jack Taylor, O. Saugstad, H. Vindenes, Frank Åbyholm (2003)
Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene‐environment interactions in case‐parent triadsGenetic Epidemiology, 25
K. Henkel (2004)
Cleft Lip and Palate from Origin to TreatmentJournal of Cranio-maxillofacial Surgery, 32
John Storey, R. Tibshirani (2003)
Statistical significance for genomewide studiesProceedings of the National Academy of Sciences of the United States of America, 100
Véronique Duboc, M. Logan (2011)
Regulation of limb bud initiation and limb‐type morphologyDevelopmental Dynamics, 240
Ré Kazma, M. Babron, Emmanuelle Gé
American Journal of Epidemiology Practice of Epidemiology Genetic Association and Gene-environment Interaction: a New Method for Overcoming the Lack of Exposure Information in Controls
Å. Sivertsen, A. Wilcox, R. Skjærven, H. Vindenes, F. Åbyholm, E. Harville, R. Lie (2008)
Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relativesBDJ, 204
J. Murray (2002)
Gene/environment causes of cleft lip and/or palateClinical Genetics, 61
M. Dixon, M. Marazita, T. Beaty, J. Murray (2011)
Cleft lip and palate: understanding genetic and environmental influencesNature Reviews Genetics, 12
Terri Beaty, J. Murray, M. Marazita, R. Munger, I. Ruczinski, J. Hetmanski, K. Liang, Tao Wu, Tanda Murray, M. Fallin, Richard Redett, G. Raymond, H. Schwender, S. Jin, M. Cooper, M. Dunnwald, M. Mansilla, E. Leslie, S. Bullard, A. Lidral, Lina Moreno, Renato Menezes, A. Vieira, A. Petrin, A. Wilcox, R. Lie, E. Jabs, Y. Wu-Chou, P. Chen, Hong Wang, X. Ye, Shangzhi Huang, V. Yeow, S. Chong, S. Jee, B. Shi, K. Christensen, M. Melbye, K. Doheny, E. Pugh, H. Ling, E. Castilla, A. Czeizel, Lian Ma, L. Field, L. Brody, F. Pangilinan, J. Mills, A. Molloy, P. Kirke, J. Scott, M. Arcos-Burgos, A. Scott (2010)
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Nature Genetics, 42
Tao Wu, K. Liang, J. Hetmanski, I. Ruczinski, M. Fallin, R. Ingersoll, Hong Wang, Shangzhi Huang, X. Ye, Y. Wu-Chou, P. Chen, E. Jabs, B. Shi, R. Redett, A. Scott, T. Beaty (2010)
Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palateHuman Genetics, 128
D. Grosen, C. Chevrier, A. Skytthe, C. Bille, K. Mølsted, Å. Sivertsen, J. Murray, K. Christensen (2009)
A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritanceJournal of Medical Genetics, 47
L. DeRoo, A. Wilcox, C. Drevon, R. Lie (2008)
First-trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study.American journal of epidemiology, 168 6
Nadine Andrieu, Nadine Andrieu, A. Goldstein (2004)
The case-combined-control design was efficient in detecting gene-environment interactions.Journal of clinical epidemiology, 57 7
J. Warkany, H. Kalter (1961)
Congenital malformations.The New England journal of medicine, 265
H. Gjessing, R. Lie, R. Lie (2006)
Case‐parent Triads: Estimating Single‐ and Double‐dose Effects of Fetal and Maternal Disease Gene HaplotypesAnnals of Human Genetics, 70
Orofacial clefts are common birth defects with strong evidence for both genetic and environmental causal factors. Candidate gene studies combined with exposures known to influence the outcome provide a highly targeted approach to detecting GxE interactions. We developed a new statistical approach that combines the case‐control and offspring‐parent triad designs into a “hybrid design” to search for GxE interactions among 334 autosomal cleft candidate genes and maternal first‐trimester exposure to smoking, alcohol, coffee, folic acid supplements, dietary folate and vitamin A. The study population comprised 425 case‐parent triads of isolated clefts and 562 control‐parent triads derived from a nationwide study of orofacial clefts in Norway (1996–2001). A full maximum‐likelihood model was used in combination with a Wald test statistic to screen for statistically significant GxE interaction between strata of exposed and unexposed mothers. In addition, we performed pathway‐based analyses on 28 detoxification genes and 21 genes involved in folic acid metabolism. With the possible exception of the T‐box 4 gene (TBX4) and dietary folate interaction in isolated CPO, there was little evidence overall of GxE interaction in our data. This study is the largest to date aimed at detecting interactions between orofacial clefts candidate genes and well‐established risk exposures.
Annals of Human Genetics – Wiley
Published: Jan 1, 2012
Keywords: ; ; ; ;
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