A Genome‐Wide Linkage Scan for Quantitative Trait Loci Influencing the Craniofacial Complex in Humans (Homo sapiens sapiens)

The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the g...

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Published inAnatomical record (Hoboken, N.J. : 2007) Vol. 294; no. 4; pp. 664 - 675
Main Authors Sherwood, Richard J., Duren, Dana L., Mahaney, Michael C., Blangero, John, Dyer, Thomas D., Cole, Shelley A., Czerwinski, Stefan A., Chumlea, WM. Cameron, Siervogel, Roger M., Choh, Audrey C., Nahhas, Ramzi W., Lee, Miryoung, Towne, Bradford
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2011
Wiley Subscription Services, Inc
Subjects
Adolescent
Adult
Aged
Aged, 80 and over
Animal models
Basicranium
Bone Development - genetics
Cephalometry
Child
chromosome 3
Chromosomes, Human
Congenital defects
craniofacial complex
craniofacial growth
Facial Bones - diagnostic imaging
Facial Bones - growth & development
Female
Genetic analysis
Genetic Linkage
Genome-Wide Association Study
genome‐wide linkage analysis
Genotype
Heredity
Heritability
human
Humans
Linkage analysis
Longitudinal Studies
Male
Middle Aged
Models, Genetic
Models, Statistical
Ohio
Pedigree
Phenotype
QTL
Quantitative Trait Loci
Radiography
Skull - diagnostic imaging
Skull - growth & development
Systems Biology
Young Adult
Online AccessGet full text
ISSN1932-8486
1932-8494
1932-8494
DOI10.1002/ar.21337

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Abstract The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum‐likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans. Anat Rec, 2011. © 2011 Wiley‐Liss, Inc.
AbstractList The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans. Anat Rec, 2011. © 2011 Wiley-Liss, Inc.
The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. The current study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the SOLAR analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans.
The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans. Anat Rec, 2011. copyright 2011 Wiley-Liss, Inc.
The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans.
The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans.The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. This study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the Sequential Oligogenic Linkage Analysis Routines analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans.
Author Mahaney, Michael C.
Dyer, Thomas D.
Nahhas, Ramzi W.
Choh, Audrey C.
Sherwood, Richard J.
Towne, Bradford
Lee, Miryoung
Duren, Dana L.
Cole, Shelley A.
Blangero, John
Siervogel, Roger M.
Czerwinski, Stefan A.
Chumlea, WM. Cameron
AuthorAffiliation Lifespan Health Research Center, Dept. of Community Health, Boonshoft School of Medicine, 3171 Research Blvd., Wright State University, Kettering, OH 45420
Dept. of Genetics, P.O. Box 760549, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549
Dept. of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH 45435
Dept. of Orthopaedic Surgery, Boonshoft School of Medicine, Wright State University, Dayton, OH 45409
Southwest National Primate Research Center, San Antonio TX 78245
AuthorAffiliation_xml – name: Southwest National Primate Research Center, San Antonio TX 78245
– name: Dept. of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH 45435
– name: Dept. of Genetics, P.O. Box 760549, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549
– name: Lifespan Health Research Center, Dept. of Community Health, Boonshoft School of Medicine, 3171 Research Blvd., Wright State University, Kettering, OH 45420
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1999; 58
2003; 9
1992; 359
2001; 59
1995; 202
1985; 55
2006; 442
2006; 288
1988
1998; 28
1997; 61
2006; 50
2006; 51
2000; 25
2006; 12
1977; 47
2010
2005; 433
1997; 69
1995; 11
1995; 758
2006; 15
2009
2008
1994
2007; 50
1992
2002
2004b; 22
1996; 58
1998; 62
2007; 10
2001; 169
2009; 138
1996; 56
2001; 65
2001; 111
2004; 313
1993; 119
2002; 120
2004a; 547
1993; 53
2006; 141
2006; 140
2002; 71
1982; 90
1977; 56
2003; 423
1998; 7
2005; 11
2003; 100
1983; 47
2005; 57
1994; 7
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Snippet The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations....
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StartPage 664
SubjectTerms Adolescent
Adult
Aged
Aged, 80 and over
Animal models
Basicranium
Bone Development - genetics
Cephalometry
Child
chromosome 3
Chromosomes, Human
Congenital defects
craniofacial complex
craniofacial growth
Facial Bones - diagnostic imaging
Facial Bones - growth & development
Female
Genetic analysis
Genetic Linkage
Genome-Wide Association Study
genome‐wide linkage analysis
Genotype
Heredity
Heritability
human
Humans
Linkage analysis
Longitudinal Studies
Male
Middle Aged
Models, Genetic
Models, Statistical
Ohio
Pedigree
Phenotype
QTL
Quantitative Trait Loci
Radiography
Skull - diagnostic imaging
Skull - growth & development
Systems Biology
Young Adult
Title A Genome‐Wide Linkage Scan for Quantitative Trait Loci Influencing the Craniofacial Complex in Humans (Homo sapiens sapiens)
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Far.21337
https://www.ncbi.nlm.nih.gov/pubmed/21328561
https://www.proquest.com/docview/1768029772
https://www.proquest.com/docview/1017968750
https://www.proquest.com/docview/857814720
https://pubmed.ncbi.nlm.nih.gov/PMC3091483
Volume 294
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