Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations

European Journal of Human Genetics : EJHG
J W SullTerri H Beaty

Abstract

Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of 1 in 700 live births. The paired box (PAX) genes have been suggested as candidate genes for CL/P based largely on mouse models; however, few human studies have focused on this gene family. This study tests for association between markers in four PAX genes and CL/P using a case-parent trio design considering parent-of-origin effects. Trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 34 single nucleotide polymorphisms (SNPs) in the PAX3, PAX6, PAX7, and PAX9 genes. We performed the transmission disequilibrium test (TDT) on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test (TAT) and the parent-of-origin likelihood ratio test (PO-LRT). TDT analysis showed one SNP (rs766325) in PAX7 yielding evidence of linkage and association when parent-of-origin was not considered, with an OR(transmission)=1.62 (P=0.003), and five SNPs in PAX6 (including two pairs in near perfect linkage disequilibrium). TAT analysis of all trios revealed two SNPs in PAX7 and four SNPs in PAX3 showing significant excess maternal t...Continue Reading

References

Oct 21, 1972·Lancet·J D NiswanderK Dronamraju
Apr 22, 1993·Nature·A C Ferguson-SmithM A Surani
Jan 1, 1993·Nature Genetics·M TassabehjiT Strachan
Dec 1, 1996·Current Opinion in Cell Biology·A MansouriP Gruss
Jul 23, 1998·Current Topics in Developmental Biology·Y Iwasa
Jun 12, 1999·American Journal of Human Genetics·C R Weinberg
Sep 1, 2000·American Journal of Human Genetics·H ZhaoK K Kidd
Dec 5, 2000·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·D A Underhill
Mar 16, 2002·Nature Neuroscience·Nico HeinsMagdalena Götz
Jul 13, 2002·American Journal of Medical Genetics·K A VolcikH Northrup
Jan 29, 2003·Human Mutation·Lian-Yu ChaoGrady F Saunders
May 3, 2003·Nature Reviews. Genetics·Jon F Wilkins, David Haig
Jan 15, 2004·Human Molecular Genetics·Philip Stanier, Gudrun E Moore
Jan 28, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Monica RittlerE E Castilla
Mar 5, 2004·European Journal of Orthodontics·Martyn T Cobourne
Jun 9, 2004·Genetic Epidemiology·Tim Becker, Michael Knapp
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Aug 20, 2004·The New England Journal of Medicine·Theresa M ZuccheroJeffrey C Murray
Sep 2, 2004·Cold Spring Harbor Symposia on Quantitative Biology·P Y Kwok, M Xiao
Sep 2, 2004·Cold Spring Harbor Symposia on Quantitative Biology·J B FanM S Chee
Dec 17, 2004·Pediatric Blood & Cancer·Raushan T KurmashevaCraig A Cooney
Apr 22, 2005·Nature·Frédéric RelaixMargaret Buckingham
Jul 12, 2005·American Journal of Medical Genetics. Part a·Michele RubiniElisa Calzolari
Aug 25, 2005·Human Heredity·Daria SalyakinaBertram Muller-Myhsok
Sep 22, 2005·American Journal of Human Genetics·C R Weinberg, D M Umbach
May 12, 2006·Nature·Martín L BaschMartín I García-Castro
Nov 9, 2006·Archives of Pathology & Laboratory Medicine·David M Parham, Dale A Ellison
Jul 4, 2007·International Journal of Pediatric Otorhinolaryngology·Francesco CarinciFurio Pezzetti
May 16, 2008·Journal of Human Genetics·Heiko ReutterElisabeth Mangold

Citations

Mar 8, 2012·European Journal of Human Genetics : EJHG·Anne-Sophie JannotStanislas Lyonnet
Oct 31, 2013·European Journal of Human Genetics : EJHG·Paras GargAndrew J Sharp
Sep 26, 2009·Human Molecular Genetics·Lina M MorenoAndrew C Lidral
Mar 23, 2012·Journal of Applied Oral Science : Revista FOB·José Alberto de Souza FreitasJoão Henrique Nogueira Pinto
Sep 3, 2011·Trends in Molecular Medicine·Elisabeth MangoldMarkus M Nöthen
Oct 15, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Elizabeth J Leslie, Mary L Marazita
Oct 20, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Entessar NasserKerstin U Ludwig
Mar 28, 2013·American Journal of Medical Genetics. Part a·Seth M WeinbergPeg Nopoulos
Jan 22, 2014·Birth Defects Research. Part A, Clinical and Molecular Teratology·Sibele Nascimento de AquinoRicardo D Coletta
Aug 8, 2014·American Journal of Medical Genetics. Part a·Jane C FigueiredoWilliam Magee
May 19, 2010·Developmental Biology·Erin BettersMartín I García-Castro
Jul 17, 2010·American Journal of Medical Genetics. Part a·José SuazoRafael Blanco
Jun 8, 2019·Oral Diseases·Agnieszka GaczkowskaAdrianna Mostowska
Mar 16, 2012·American Journal of Medical Genetics. Part a·Min ShiTerri H Beaty
Oct 8, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Yusi WangJie Wu
Jan 5, 2021·Global Medical Genetics·Mahamad Irfanulla Khan, Prashanth Cs
Mar 12, 2021·Global Medical Genetics·Mahamad Irfanulla KhanNarasimha Murthy Srinath

Related Concepts

Pax6.2 protein
PAX3 protein, human
PAX7 protein, human
PAX9 protein, human
Cleft Lip
Cleft Palate, Isolated
Eye Proteins
Repressor Molecules
Linkage Disequilibrium
Nested Case-Control Studies

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.