Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

Human Genetics
Natalie J PrescottS Malcolm

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex disorder of multigenic origin involving between two and ten loci. Linkage and association studies of CL/P have implicated a number of candidate genes and regions but have often proved difficult to replicate. Here, we report the findings from a two-stage genome-wide scan of 92 affected sib-pairs to identify susceptibility loci to CL/P. An initial set of 400 microsatellite markers was used, with an average spacing of 10 cM throughout the genome. Eleven regions on eight chromosomes were found to have a P-value smaller than 0.05. These eight chromosomes were then further mapped with a second set of markers to increase the average map density to 5 cM. In seven out of eleven areas densely mapped, significance was markedly increased by decreasing the marker interval. Excessive allele sharing was found at 1p (NPL=2.35, P=0.009, MLS=1.51), 2p (NPL=1.77, P= 0.04, MLS=0.66), 6p (NPL=2.35, P=0.009, MLS=1.34), 8q (NPL=2.15, P=0.015, MLS= 1.51) 11 cen (NPL=2.70, P=0.003, MLS=2.10), 12q (NPL=2.08, P=0.02, MLS= 1.5), 16p (NPL=2.1, P=0.018, MLS=0.97) and Xcen-q (NPL=2.40, P=0.008, MLS=2.68). Although none reached the level required for significant susceptibility loci, two o...Continue Reading

Citations

Feb 4, 2005·American Journal of Medical Genetics. Part a·L ScapoliP Carinci
Mar 31, 2004·Annales de génétique·Vincent GajdosC Bonaïti-Pellié
May 18, 2004·Clinics in Plastic Surgery·Mary L Marazita, Mark P Mooney
May 29, 2002·Clinical Genetics·J C Murray
Aug 22, 2008·European Journal of Human Genetics : EJHG·Brett T ChiquetJacqueline T Hecht
Dec 30, 2010·DNA and Cell Biology·Zhong-Lin JiaXiang-Li Kong
Jul 10, 2007·Human Molecular Genetics·Brett T ChiquetJacqueline T Hecht
Sep 26, 2009·Human Molecular Genetics·Lina M MorenoAndrew C Lidral
Dec 1, 2012·Human Molecular Genetics·Ingrid P VogelaarNicoline Hoogerbrugge
Dec 26, 2001·Current Opinion in Pediatrics·R A Spritz
Nov 12, 2005·Current Opinion in Pediatrics·Andrew C Lidral, Lina M Moreno
Mar 3, 2011·Plastic and Reconstructive Surgery·Benjamin LeviMichael T Longaker
Dec 6, 2005·PLoS Genetics·Alexandre R VieiraJeffrey C Murray
May 21, 2004·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Young-Jooh YoonStephanos Kyrkanides
Jun 30, 2004·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·M R Passos-BuenoB C Araújo
May 4, 2005·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Rafael BlancoLilian Jara
May 3, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Heiko ReutterElisabeth Mangold
Sep 16, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Angela Ehlers BertojaWanyce Miriam Robinson
Sep 8, 2010·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ariadne LetraMary L Marazita
May 7, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fedik RahimovJeffrey C Murray
May 23, 2002·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Natalie J Prescott, S Malcolm
Jul 9, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Marja R PerkiomakiStephanos Kyrkanides
Nov 3, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Jyotsna Murthy, L V K S Bhaskar
Nov 4, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Peter A Mossey, Julian Little
Mar 23, 2012·Journal of Oral and Maxillofacial Pathology : JOMFP·Sarvraj Singh Kohli, Virinder Singh Kohli
May 1, 2004·Proceedings of the National Academy of Sciences of the United States of America·Jeffrey O BushR Jiang
Jun 19, 2012·Annual Review of Genomics and Human Genetics·Mary L Marazita
Apr 2, 2004·American Journal of Medical Genetics. Part a·Mary L MarazitaK Gürler Gürsu
Sep 3, 2011·Trends in Molecular Medicine·Elisabeth MangoldMarkus M Nöthen
Aug 31, 2012·The Journal of Investigative Dermatology·Gabriel de la GarzaRobert A Cornell
Jun 6, 2009·Seminars in Orthodontics·Andrew C LidralSteven A Bullard
May 7, 2009·Developmental Dynamics : an Official Publication of the American Association of Anatomists·P A JezewskiP C Yelick
Jan 26, 2007·Clinical Genetics·G R HandriganJ M Richman
Sep 19, 2012·European Journal of Oral Sciences·Elisabeth MangoldAugusto Rojas-Martínez
Mar 3, 2010·Birth Defects Research. Part A, Clinical and Molecular Teratology·Susan H BlantonJacqueline T Hecht
Apr 29, 2014·European Journal of Medical Genetics·Núria Setó-Salvia, P Stanier
Sep 1, 2015·Frontiers in Genetics·Yalu Wen, Qing Lu
Feb 12, 2011·Archives of Oral Biology·L V K S BhaskarG Venkatesh Babu
Jun 28, 2002·American Journal of Human Genetics·Mary L MarazitaYou-e Liu
Jan 21, 2011·Journal of Dental Research·P N KantaputraP Stanier
Jul 22, 2017·Journal of Dental Research·X FuY Lan
Nov 5, 2003·American Journal of Medical Genetics. Part a·D F WyszynskiJoan E Bailey-Wilson
Mar 7, 2003·The Journal of Craniofacial Surgery·F CarinciM Tognon
Feb 3, 2004·American Journal of Medical Genetics. Part a·Susan H BlantonJacqueline T Hecht
Feb 3, 2004·American Journal of Medical Genetics. Part a·R E SchultzJeffrey C Murray
Feb 3, 2004·American Journal of Medical Genetics. Part a·Susan H BlantonJacqueline T Hecht
Feb 26, 2004·American Journal of Medical Genetics. Part a·Lina M MorenoAndrew C Lidral
Aug 27, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Diana M JuriloffSarah L Dewell
Sep 21, 2004·American Journal of Medical Genetics. Part a·L Leigh FieldMary L Marazita
Apr 12, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Eloisa CartaP Stanier
Nov 16, 2007·American Journal of Medical Genetics. Part a·Jane W KimaniJeffrey C Murray
Jan 9, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Diana M Juriloff, Muriel J Harris
Jun 25, 2010·European Journal of Oral Sciences·Triin JagomägiAndres Metspalu
Sep 6, 2008·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·P J De CosterA Huysseune
Aug 13, 2005·American Journal of Medical Genetics. Part a·Susan H BlantonJacqueline T Hecht
May 20, 2004·European Journal of Human Genetics : EJHG·Ghazala MirzaJ Ragoussis
Jun 5, 2001·Nature Reviews. Genetics·A O Wilkie, G M Morriss-Kay
Apr 4, 2003·European Journal of Human Genetics : EJHG·Miia MelkoniemiLeena Ala-Kokko
Oct 23, 2003·European Journal of Human Genetics : EJHG·J S ZeigerI McIntosh
Apr 29, 2015·Clinical Dysmorphology·Venkatesh B GurramkondaBhaskar V K S Lakkakula
Jul 16, 2020·Birth Defects Research·Kurt ReynoldsChengji J Zhou
Jan 31, 2016·The Journal of Biological Chemistry·Huarong HuangZunyi Zhang
Jul 26, 2011·International Journal of Immunopathology and Pharmacology·M MartinelliL Scapoli
Sep 17, 2004·Scandinavian Journal of Clinical and Laboratory Investigation·J Hofman-Bang, M Christiansen

Related Concepts

Genome Mapping
Cleft Lip
Cleft Palate, Isolated
Genetic Screening Method
Genetic Linkage Analysis
Lod Score
Son
Transforming Growth Factor alpha
Tetranucleotide Repeats
Genetic Predisposition to Disease

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.