Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)

American Journal of Medical Genetics. Part a
Shuji KayanoYoichi Matsubara

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
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 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
Sep 2, 1999·Human Molecular Genetics·B C Schutte, J C Murray
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
Jun 1, 1968·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·W G Hill, A Robertson

❮ Previous
Next ❯

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
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
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

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.