Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/evidence-of-gene-environment-interaction-for-the-irf6-gene-and-IO2n7UBzlb
References (49)
-
RS Spielman, RE McGinnis, WJ Ewens (1993)
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)Am J Hum Genet, 52
-
S Birnbaum, H Reutter, C Lauster, M Scheer, G Schmidt, M Saffar, M Martini, A Hemprich, H Henschke, FJ Kramer, E Mangold (2008)
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritanceAm J Med Genet A, 146A
-
A Jugessur, F Rahimov, RT Lie, AJ Wilcox, HK Gjessing, RM Nilsen, TT Nguyen, JC Murray (2008)
Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in NorwayGenet Epidemiol, 32
-
AR Vieira (2006)
Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE reviewAm J Epidemiol, 163
-
GA Bellus, TW Hefferon, RI Ortiz de Luna, JT Hecht, WA Horton, M Machado, I Kaitila, I McIntosh, CA Francomano (1995)
Achondroplasia is defined by recurrent G380R mutations of FGFR3Am J Hum Genet, 56
-
F Rahimov, ML Marazita, A Visel (2008)
Disruption of an AP-2a binding site in an IRF6 enhancer is associated with cleft lipNat Genet, 40
-
ML Marazita, AC Lidral, JC Murray (2009)
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association resultsHum Hered, 68
-
FS Jehee, BA Burin, KM Rocha, R Zechi-Ceide, DF Bueno, L Brito, J Souza, GF Leal, A Richieri-Costa, N Alonso, PA Otto, MR Passos-Bueno (2009)
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?Am J Med Genet A, 149A
-
K. Christensen, K. Juel, A. Herskind, J. Murray (2004)
Long term follow up study of survival associated with cleft lip and palate at birthBMJ : British Medical Journal, 328
-
JC Barret, B Fry, J Maller, MJ Daly (2005)
Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 21
-
SH Blanton, A Cortez, S Stal, JB Mulliken, RH Finnell, JT Hecht (2005)
Variation in IRF6 contributes to nonsyndromic cleft lip and palateAm J Med Genet A, 137A
-
NM Laird, S Horvath, X Xu (2000)
Implementing a unified approach to family-based tests of associationGenet Epidemiol, 19
-
L. Paranaíba, A. Bufalino, H. Martelli-Júnior, L. Barros, E. Graner, R. Coletta (2010)
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.Oral diseases, 16 2
-
Tonia Carter, A. Molloy, F. Pangilinan, J. Troendle, P. Kirke, M. Conley, D. Orr, M. Earley, E. McKiernan, E. Lynn, Anne Doyle, J. Scott, L. Brody, J. Mills (2009)
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.Birth defects research. Part A, Clinical and molecular teratology, 88 2
-
P Kraft, YC Yen, DO Stram, J Morrison, WJ Gauderman (2007)
Exploiting gene-environment interaction to detect genetic associationsHum Hered, 63
-
M. Pegelow, M. Peyrard-Janvid, M. Zucchelli, I. Fransson, O. Larson, J. Kere, C. Larsson, A. Karsten (2008)
Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.European journal of orthodontics, 30 2
-
M Shi, DM Umbach, CR Weinberg (2007)
Identification of risk-related haplotypes with the use of multiple SNPs from nuclear familiesAm J Hum Genet, 81
-
JR Starr, L Hsu, SM Schwartz (2005)
Assessing maternal genetic associations: a comparison of the log-linear approach to case-parent triad data and a case-control approachEpidemiology, 16
-
D Rabinowitz, N Laird (2000)
A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker informationHum Hered, 50
-
A Luna, KK Nicodemus (2007)
snp.plotter: an R-based SNP/haplotype association and linkage disequilibrium plotting packageBioinformatics, 15
-
GM Shaw, CR Wasserman, JC Murray, EJ Lammer (1998)
Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin useCleft Palate Craniofac J, 35
-
AC Lidral, LM Moreno, SA Bullard (2008)
Genetic Factors and Orofacial CleftingSemin Orthod, 14
-
M Shi, GL Wehby, JC Murray (2008)
Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defectsBirth Defects Res C Embryo Today, 84
-
MJ Boogaard, D Costa, IP Krapels, F Liu, C Duijn, RJ Sinke, D Lindhout, RP Steegers-Theunissen (2008)
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial cleftsHum Genet, 124
-
ZL Jia, Y Li, L Li, J Wu, LY Zhu, C Yang, CH Chen, B Shi (2009)
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western chinaDNA Cell Biol, 28
-
M Rubini, R Brusati, G Garattini (2005)
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palateAm J Med Genet A, 136A
-
P Mossey (2007)
Epidemiology underpinning research in the aetiology of orofacial cleftsOrthod Craniofacial Res, 10
-
AR Vieira, ME Cooper, ML Marazita, IM Orioli, EE Castilla (2007)
Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South AmericaAm J Med Genet A, 143A
-
CR Weinberg, AJ Wilcox, RT Lie (1998)
A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprintingAm J Hum Genet, 62
-
TM Zucchero, ME Cooper, BS Maher (2004)
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateN Engl J Med, 351
-
CM Bailey, DE Abbott, NV Margaryan, Z Khalkhali-Ellis, MJ Hendrix (2008)
Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent mannerMol Cell Biol, 28
-
T Taniguchi, K Ogasawara, A Takaoka, N Tanaka (2001)
IRF family of transcription factors as regulators of host defenseAnnu Rev Immunol, 19
-
CY Johnson, J Little (2008)
Folate intake, markers of folate status and oral clefts: is the evidence converging?Int J Epidemiol, 37
-
C. Srichomthong, P. Siriwan, V. Shotelersuk (2005)
Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai populationJournal of Medical Genetics, 42
-
HJ Cordell, BJ Barratt, DG Clayton (2004)
Case/pseudocontrol analysis in genetic association studies: a unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effectsGenet Epidemiol, 26
-
L Scapoli, A Palmieri, M Martinelli, F Pezzetti, P Carinci, M Tognon, F Carinci (2005)
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian populationAm J Hum Genet, 76
-
K Christensen, PB Mortensen (2002)
Facial clefting and psychiatric diseases: a follow-up of the Danish 1936–1987 Facial Cleft cohortCleft Palate Craniofac J, 39
-
M Pegelow, M Peyrard-Janvid, M Zucchelli, I Fransson, O Larson, J Kere, C Larsson, A Karsten (2008)
Familial non-syndromic cleft lip and palate–analysis of the IRF6 gene and clinical phenotypesEur J Othod, 30
-
W Tang, X Du, F Feng, J Long, Y Lin, P Li, L Liu, W Tian (2009)
Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese populationCleft Palate Craniofac J, 46
-
JW Sull, KY Liang, JB Hetmanski (2009)
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanismsHum Genet, 126
-
S Horvath, X Xu, SL Lake, EK Silverman, ST Weiss, NM Laird (2004)
Family-based tests for associating haplotypes with general phenotype data: application to asthma geneticsGenet Epidemiol, 26
-
S Kondo, BC Schutte, RJ Richardson (2002)
Mutations in IRF6 cause van der Woude and popliteal pterygium syndromesNat Genet, 32
-
F. Rahimov, M. Marazita, A. Visel, M. Cooper, M. Hitchler, M. Rubini, F. Domann, M. Govil, K. Christensen, Camille Bille, M. Melbye, A. Jugessur, R. Lie, A. Wilcox, D. FitzPatrick, E. Green, P. Mossey, J. Little, R. Steegers-Theunissen, L. Pennacchio, B. Schutte, J. Murray (2008)
Disruption of an AP-2α binding site in an IRF6 enhancer is strongly associated with cleft lipNature genetics, 40
-
M Ghassibé, B Bayet, N Revencu, C Verellen-Dumoulin, Y Gillerot, R Vanwijck, M Vikkula (2005)
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationEur J Hum Genet, 13
-
Y Huang, J Wu, J Ma, TH Beaty, JW Sull, L Zhu, D Lu, Y Wang, T Meng, B Shi (2009)
Association between IRF6 SNPs and oral clefts in West ChinaJ Dent Res, 88
-
CR Ingraham, A Kinoshita, S Kondo, B Yang, S Sajan, KJ Trout, MI Malik, M Dunnwald, SL Goudy, M Lovett, JC Murray, BC Schutte (2006)
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (IRF6)Nat Genet, 38
-
JW Park, I McIntosh, JB Hetmanski (2007)
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populationsGenet Med, 9
-
S Vansteelandt, DL Demeo, J Lasky-Su, JW Smoller, AJ Murphy, M McQueen, K Schneiter, JC Celedon, ST Weiss, EK Silverman, C Lange (2008)
Testing and estimating gene-environment interactions in family-based association studiesBiometrics, 64
-
JW Sull, KY Liang, JB Hetmanski (2008)
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populationsAm J Med Genet A, 146A
- Publisher
- Springer Journals
- Copyright
- Copyright © 2010 by Springer-Verlag
- Subject
- Biomedicine; Human Genetics ; Metabolic Diseases; Gene Function; Molecular Medicine
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- DOI
- 10.1007/s00439-010-0863-y
- pmid
- 20652317
- Publisher site
- See Article on Publisher Site
Abstract
Although multiple genes have been identified as genetic risk factors for isolated, non-syndromic cleft lip with/without cleft palate (CL/P), a complex and heterogeneous birth defect, interferon regulatory factor 6 gene ( IRF6 ) is one of the best documented genetic risk factors. In this study, we tested for association between markers in IRF6 and CL/P in 326 Chinese case–parent trios, considering gene–environment interaction for two common maternal exposures, and parent-of-origin effects. CL/P case–parent trios from three sites in mainland China and Taiwan were genotyped for 22 single nucleotide polymorphisms (SNPs) in IRF6 . The transmission disequilibrium test was used to test for marginal effects of individual SNPs. We used PBAT to screen the SNPs and haplotypes for gene–environment (G × E) interaction and conditional logistic regression models to quantify effect sizes for SNP–environment interaction. After Bonferroni correction, 14 SNPs showed statistically significant association with CL/P. Evidence of G × E interaction was found for both maternal exposures, multivitamin supplementation and environmental tobacco smoke (ETS). Two SNPs showed evidence of interaction with multivitamin supplementation in conditional logistic regression models ( rs2076153 nominal P = 0.019, rs17015218 nominal P = 0.012). In addition, rs1044516 yielded evidence for interaction with maternal ETS (nominal P = 0.041). Haplotype analysis using PBAT also suggested interaction between SNPs in IRF6 and both multivitamin supplementation and ETS. However, no evidence for maternal genotypic effects or significant parent-of-origin effects was seen in these data. These results suggest IRF6 gene may influence risk of CL/P through interaction with multivitamin supplementation and ETS in the Chinese population.
Journal
Human Genetics – Springer Journals
Published: Oct 1, 2010