Abstract
The etiology of nonsyndromic oral clefts (cleft lip, cleft palate, or cleft lip and palate) is still controversial, but is considered to involve both genetic and environmental factors. One of suspected environmental factors is 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) found in tobacco, herbicides, contaminated soil, and food. TCDD administered during organogenesis in mice causes a high incidence of CP in fetuses. There is ample evidence that aryl hydrocarbon receptor (AHR), AHR nuclear translocator (ARNT), and cytochrome P450 1A1 (CYP1A1) are involved in TCDD metabolism. We assessed whether there is any association in the Japanese population of nonsyndromic oral clefts with single nucleotide polymorphisms (SNPs) in the AHR, ARNT, and CYP1A1 genes using transmission disequilibrium test (TDT) and case-control study. We identified and investigated three SNPs in ARNT; 567G/C (V189V), IVS12-19T/G, and 2117C/T (P706L). Two amino acid substitutions, R554L in AHR and I462V in CYP1A1, were also investigated. In the TDT, the C allele of ARNT 567G/C was preferentially transmitted to patients (P = 0.033). When a haplotype consisting of 567G/C and IVS12-19T/G in ARNT was considered, the preferential transmission of the CT (567C-IVS12-19T) ...Continue Reading
References
May 1, 1989·Archives of Environmental Health·H Muto, Y Takizawa
Nov 1, 1971·Toxicology and Applied Pharmacology·K D Courtney, J A Moore
May 1, 1996·Teratology·D F Wyszynski, T H Beaty
Sep 1, 1996·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·D F WyszynskiN E Maestri
Dec 17, 1997·Developmental Biology·K R KozakO Hankinson
Jan 24, 1998·American Journal of Medical Genetics·N E MaestriC VanderKolk
Jan 14, 1998·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·J MimuraY Fujii-Kuriyama
Mar 14, 1998·Journal of Biochemistry·K Sogawa, Y Fujii-Kuriyama
Jan 12, 1999·American Journal of Epidemiology·A M GarcíaE Orts
Feb 27, 1999·Toxicological Sciences : an Official Journal of the Society of Toxicology·B D AbbottG A Held
Sep 2, 1999·Human Molecular Genetics·B C Schutte, J C Murray
Jan 29, 2000·Human Mutation·K FujiiK Narisawa
Mar 8, 2000·American Journal of Public Health·C LorenteR Knill-Jones
Aug 16, 2001·Epidemiology·I A van RooijR P Steegers-Theunissen
Jan 26, 2002·Human Genetics·Luca ScapoliPaolo Carinci
Mar 21, 2002·Journal of Agricultural and Food Chemistry·Janice K Huwe
May 29, 2002·Clinical Genetics·J C Murray
May 29, 2002·Journal of Human Genetics·Julia ScheelHans-Joachim Schmitz
Jul 30, 2002·Environmental Science & Technology·Brian K Gullett, Jeffrey V Ryan
Jan 1, 1964·Genetics·R C Lewontin
Jun 1, 1968·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·W G Hill, A Robertson
Citations
Nov 12, 2005·Current Opinion in Pediatrics·Andrew C Lidral, Lina M Moreno
Jul 5, 2007·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Paul A RomittiDonna L Wong-Gibbons
Jun 15, 2007·Fertility and Sterility·Ave MerisaluAndres Salumets
Aug 14, 2008·American Journal of Medical Genetics. Part a·Cécile ChevrierSylvaine Cordier
Oct 30, 2007·American Journal of Medical Genetics. Part a·Bridget M Riley, Jeffrey C Murray
Nov 22, 2012·Chemosphere·Wan-Ting HungYue Leon Guo
Feb 6, 2015·Human Molecular Genetics·Andrew C LidralRobert A Cornell
Jul 28, 2017·Birth Defects Research·Yi CaiJoseph Haddad
Dec 1, 2017·Cardiovascular Toxicology·Silvia PulignaniMaria Grazia Andreassi
Sep 29, 2009·Toxicology and Industrial Health·Li-qiang GanGuang-hui Wei
Jul 16, 2020·Birth Defects Research·Kurt ReynoldsChengji J Zhou
Oct 31, 2020·Birth Defects Research·Michael A GarlandChengji J Zhou
Aug 18, 2020·Mutation Research. Reviews in Mutation Research·Bianca Domit Werner LinnenkampRoberto Hirochi Herai