{"id":{"repo_id":"dundee","oai_identifier":"oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"},"canonical_url":"https://search.dev.ndltd.org/etd/dundee/oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166","repository":{"repo_id":"dundee","name":"University of Dundee","base_url":"https://discovery.dundee.ac.uk/ws/oai"},"display":{"title":"Subclinical Phenotypes and Genotypes in Parents of Children with Non-Syndromic Cleft of Lip and/or Palate","abstract":"Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping.
Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes.
Methods: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci.
Results: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant difference in the prevalence of lip whorls between the parents and controls (p>0.05). However, statistically, significant differences in tooth dimensions were found between the parents and controls (p<0.05).The mesiodistal dimension of the crown of the lower left second premolar showed a statistically significant (p<0.05) association with SNP rs6657063 in the ARHGAP29 gene when the parental-control group factor was included in the analysis.The symmetrical PC5 of the facial morphology showed an association with SNP (rs7972295) in the ADAMTS 20 gene for the father-male control group data.
Conclusion: Non-cleft parents have distinctive facial morphological features and different dental width measurements, but only tooth 35 width - gene association was recorded when the parental - control factor included in the analysis.","abstract_html":"<b>Introduction</b>: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping.<b><br/></b><b><br/></b><b>Aim</b>: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes.<b><br/></b><b><br/></b><b>Methods</b>: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci.<b><br/></b><b><br/></b><b>Results</b>: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant difference in the prevalence of lip whorls between the parents and controls (p>0.05). However, statistically, significant differences in tooth dimensions were found between the parents and controls (p<0.05).The mesiodistal dimension of the crown of the lower left second premolar showed a statistically significant (p<0.05) association with SNP rs6657063 in the ARHGAP29 gene when the parental-control group factor was included in the analysis.The symmetrical PC5 of the facial morphology showed an association with SNP (rs7972295) in the ADAMTS 20 gene for the father-male control group data.<b><br/></b><b><br/></b><b>Conclusion</b>: Non-cleft parents have distinctive facial morphological features and different dental width measurements, but only tooth 35 width - gene association was recorded when the parental - control factor included in the analysis.","abstract_has_math":false,"creators":["Al-Talabani, Shaho Ziyad Jamil"],"institution":"University of Dundee","degree_name":"Doctor of Philosophy","degree_level":"Doctoral Thesis","degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Mossey, Peter"],"committee_chairs":[],"committee_members":[],"year":2016,"date_issued":"2016","date_published":"2016","updated_at":"2026-07-24T02:08:26Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"],"render_values":[{"text":"oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166","href":null,"code":true}]}]},"links":{"outbound_url":"https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Mossey, Peter"]},{"key":"dc:creator","label":"Author","values":["Al-Talabani, Shaho Ziyad Jamil"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2016"]},{"key":"dc:date.issued","label":"Date","values":["2016"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Undergraduate Medicine"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Dundee"]},{"key":"dc:relation.isreferencedby","label":"Dc Relation Isreferencedby","values":["https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"]},{"key":"dc:type","label":"Dc Type","values":["Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Doctoral Thesis"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["Doctor of Philosophy"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["eng"]},{"key":"dc:rights.embargodate","label":"Dc Rights Embargodate","values":["2020-02-29"]},{"key":"dc:rights.embargoreason","label":"Dc Rights Embargoreason","values":["/dk/atira/pure/core/document/studentthesisembargoreason/commercialexploitation"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166","https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping.
Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes.
Methods: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci.
Results: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant difference in the prevalence of lip whorls between the parents and controls (p>0.05). However, statistically, significant differences in tooth dimensions were found between the parents and controls (p<0.05).The mesiodistal dimension of the crown of the lower left second premolar showed a statistically significant (p<0.05) association with SNP rs6657063 in the ARHGAP29 gene when the parental-control group factor was included in the analysis.The symmetrical PC5 of the facial morphology showed an association with SNP (rs7972295) in the ADAMTS 20 gene for the father-male control group data.
Conclusion: Non-cleft parents have distinctive facial morphological features and different dental width measurements, but only tooth 35 width - gene association was recorded when the parental - control factor included in the analysis."]},{"key":"dc:title","label":"Title","values":["Subclinical Phenotypes and Genotypes in Parents of Children with Non-Syndromic Cleft of Lip and/or Palate"]}]}],"canonical_facts":{"dc:contributor.advisor":["Mossey, Peter"],"dc:creator":["Al-Talabani, Shaho Ziyad Jamil"],"dc:date":["2016"],"dc:date.issued":["2016"],"dc:description.abstract":["Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping.
Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes.
Methods: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci.
Results: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant difference in the prevalence of lip whorls between the parents and controls (p>0.05). However, statistically, significant differences in tooth dimensions were found between the parents and controls (p<0.05).The mesiodistal dimension of the crown of the lower left second premolar showed a statistically significant (p<0.05) association with SNP rs6657063 in the ARHGAP29 gene when the parental-control group factor was included in the analysis.The symmetrical PC5 of the facial morphology showed an association with SNP (rs7972295) in the ADAMTS 20 gene for the father-male control group data.
Conclusion: Non-cleft parents have distinctive facial morphological features and different dental width measurements, but only tooth 35 width - gene association was recorded when the parental - control factor included in the analysis."],"dc:identifier":["oai:discovery.dundee.ac.uk:studenttheses/04d9955c-a28f-4e5e-b820-224a2fb3d166","https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"],"dc:language":["eng"],"dc:publisher.department":["Undergraduate Medicine"],"dc:publisher.institution":["University of Dundee"],"dc:relation.isreferencedby":["https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166"],"dc:rights.embargodate":["2020-02-29"],"dc:rights.embargoreason":["/dk/atira/pure/core/document/studentthesisembargoreason/commercialexploitation"],"dc:title":["Subclinical Phenotypes and Genotypes in Parents of Children with Non-Syndromic Cleft of Lip and/or Palate"],"dc:type":["Thesis"],"dc:type.qualificationlevel":["Doctoral Thesis"],"dc:type.qualificationname":["Doctor of Philosophy"]},"updated_at":"2026-07-24T02:08:26Z"}