TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

Journal of Human Genetics
Heiko ReutterElisabeth Mangold

Abstract

Mice with a deletion of Tgf-beta3 (-/-) and association studies in humans of different ethnicities support the involvement of TGFB3 in the etiology of orofacial clefts. In this study, we investigated the relevance of TGFB3 in the development of cleft lip and palate (CL/P) among 204 triads of central European origin. Transmission-disequilibrium test (TDT) analysis revealed no significant transmission distortions for each marker alone, and none for any possible haplotypes. However, we found strong evidence for parent-of-origin effects, with lower risk of maternal transmission compared with paternal transmission [I (M) = 0.38; confidence interval (CI): 0.17-0.86] of the risk allele T to an affected offspring at marker rs2300607. This is also expressed in an increased risk of heterozygous children having the T allele inherited from the father (R (P) = 3.47; CI: 1.32-9.11). Our data support the involvement of TGFB3 in the development of oral clefts in patients of central European origin.

References

Dec 1, 1995·Nature Genetics·G ProetzelT Doetschman
Jan 1, 1997·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Andrew C LidralW Magee
Jun 12, 1999·American Journal of Human Genetics·C R Weinberg
Mar 8, 2000·Environmental Health Perspectives·R L JirtleJ C Barrett
May 22, 2001·Molecular Biology of the Cell·L BlavierV Kaartinen
Jun 1, 2001·American Journal of Epidemiology·L E MitchellKaare Christensen
Jul 17, 2001·Annals of Epidemiology·Terri H BeatyI McIntosh
Jan 5, 2002·Genetic Epidemiology·Terri H BeatyI McIntosh
May 23, 2002·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Jonathan A BrittoBarry M Jones
Oct 12, 2002·Developmental Biology·A GatoC Martínez-Alvarez
Mar 26, 2003·Journal of Dental Research·A R VieiraJ C Murray
May 8, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Rebecca L SlaytonCarla J Nishimura
Dec 9, 2003·Journal of Biochemistry and Molecular Biology·Myung-Hee KimDong-Seok Nahm
Aug 4, 2004·American Journal of Human Genetics·Tim Becker, Michael Knapp
Sep 10, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yasushi SuzukiJeffrey C Murray
Jul 12, 2005·American Journal of Medical Genetics. Part a·Michele RubiniElisa Calzolari
Feb 3, 2007·Journal of Applied Genetics·Ausra MorkūnienéVaidutis Kucinskas

Citations

Jan 15, 2009·European Journal of Human Genetics : EJHG·Jae Woong SullTerri H Beaty
Oct 31, 2013·European Journal of Human Genetics : EJHG·Paras GargAndrew J Sharp
Aug 26, 2011·Journal of Human Genetics·I SalahshourifarB A Zilfalil
Oct 24, 2012·Molecular Therapy : the Journal of the American Society of Gene Therapy·Chadwick WuHyun-Duck Nah
Sep 26, 2009·Human Molecular Genetics·Lina M MorenoAndrew C Lidral
Feb 23, 2010·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·José SuazoRafael Blanco
May 7, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fedik RahimovJeffrey C Murray
Feb 21, 2009·Journal of Preventive Medicine and Public Health = Yebang Ŭihakhoe Chi·Beyoung Yun ParkTerri H Beaty
Mar 14, 2012·European Journal of Oral Sciences·Rudolf ReiterChristiane Maier
Apr 23, 2013·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Ni ZengBing Shi
Aug 28, 2010·American Journal of Medical Genetics. Part a·Yongchu PanLin Wang
Jul 17, 2010·American Journal of Medical Genetics. Part a·José SuazoRafael Blanco
Mar 16, 2012·American Journal of Medical Genetics. Part a·Min ShiTerri H Beaty
Nov 26, 2009·American Journal of Medical Genetics. Part a·Elisabeth MangoldAmalia Diaz Lacava
Aug 8, 2014·American Journal of Medical Genetics. Part a·Jane C FigueiredoWilliam Magee
Dec 24, 2011·Acta Odontologica Scandinavica·Leonardo Santos AntunesJose Mauro Granjeiro
Sep 2, 2014·International Journal of Pediatric Otorhinolaryngology·C François-FiquetM Doco-Fenzy
Dec 15, 2012·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Leonardo Santos AntunesJose Mauro Granjeiro

Related Concepts

RN1001
Cleft Lip
Cleft Palate, Isolated
Heterozygote Detection
Structure of Papilla Incisiva of Mouth
Step-parent
Single Nucleotide Polymorphism
Transforming Growth Factor beta 3 Latency Associated Peptide
Alleles
Biological Markers

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