| 1. |
- Haworth, Simon, et al.
(författare)
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Consortium-based genome-wide meta-analysis for childhood dental caries traits
- 2018
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 27:17, s. 3113-3127
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Tidskriftsartikel (refereegranskat)abstract
- Prior studies suggest dental caries traits in children and adolescents are partially heritable, but there has been no large-scale consortium genome-wide association study (GWAS) to date. We therefore performed GWAS for caries in participants aged 2.5-18.0 years from nine contributing centres. Phenotype definitions were created for the presence or absence of treated or untreated caries, stratified by primary and permanent dentition. All studies tested for association between caries and genotype dosage and the results were combined using fixed-effects meta-analysis. Analysis included up to 19 003 individuals (7530 affected) for primary teeth and 13 353 individuals (5875 affected) for permanent teeth. Evidence for association with caries status was observed at rs1594318-C for primary teeth [intronic within ALLC, odds ratio (OR) 0.85, effect allele frequency (EAF) 0.60, P 4.13e-8] and rs7738851-A (intronic within NEDD9, OR 1.28, EAF 0.85, P 1.63e-8) for permanent teeth. Consortiumwide estimated heritability of caries was low [h2 of 1% (95% CI: 0%: 7%) and 6% (95% CI 0%: 13%) for primary and permanent dentitions, respectively] compared with corresponding within-study estimates [h2 of 28% (95% CI: 9%: 48%) and 17% (95% CI: 2%: 31%)] or previously published estimates. This study was designed to identify common genetic variants with modest effects which are consistent across different populations. We found few single variants associated with caries status under these assumptions. Phenotypic heterogeneity between cohorts and limited statistical power will have contributed; these findings could also reflect complexity not captured by our study design, such as genetic effects which are conditional on environmental exposure.
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| 2. |
- Houkes, Ruben, et al.
(författare)
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Classification systems of cleft lip, alveolus and palate : results of an international survey
- 2021
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Ingår i: The Cleft Palate-Craniofacial Journal. - 1055-6656 .- 1545-1569. ; , s. 1-8
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aimed to identify commonly used classification systems by cleft providers around the world, including the perceived indications and limitations of each system.Design: A cross-sectional survey.Participants: A total of 197 registrants from three international cleft/craniofacial meetings.Interventions: Participants were sent a web-based questionnaire concerning cleft classification systems.Main outcome measures: Frequency of commonly used classification systems, their perceived indications and limitations.Results: A total of 197 respondents from 166 different centers completed the questionnaire. Healthcare professionals from all disciplines responded, with the most frequent respondents being plastic surgeons (38.1%), maxillofacial surgeons (28.4%) and orthodontists (23.9%). Eighteen different classification systems were in use. The most frequently used systems were the International Statistical Classification of Diseases and Related Health Problems (ICD-10) (35.5%), LAHSHAL (34.0%), and Veau (32.5%) classification systems. Most respondents (32.5%) indicated that anatomical and morphological characteristics are essential components of a classification system. However, respondents indicated that their current classification systems lacked sufficient description of cleft extension and severity.Conclusions: Great variety in the use of classification systems exists among craniofacial specialists internationally. The results recommend the usage of the LAHSHAL classification of OFCs, due to its comprehensiveness, relatively high implementation rate globally, convenience of usage and complementarity with the ICD-10 system. Moreover, it can overcome deficiencies inextricably linked to ICD-10, such as incapacity to describe laterality and clefts of the alveolus. More international exposure to the merits of using the LAHSHAL classification system would be highly recommended.
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| 3. |
- Houkes, Ruben, et al.
(författare)
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Classification systems of cleft lip, alveolus and palate : results of an international survey
- 2021
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Ingår i: The Cleft Palate-Craniofacial Journal. - : SAGE Publications. - 1055-6656 .- 1545-1569. ; , s. 1-8
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aimed to identify commonly used classification systems by cleft providers around the world, including the perceived indications and limitations of each system. Design: A cross-sectional survey. Participants: A total of 197 registrants from three international cleft/craniofacial meetings. Interventions: Participants were sent a web-based questionnaire concerning cleft classification systems. Main outcome measures: Frequency of commonly used classification systems, their perceived indications and limitations. Results: A total of 197 respondents from 166 different centers completed the questionnaire. Healthcare professionals from all disciplines responded, with the most frequent respondents being plastic surgeons (38.1%), maxillofacial surgeons (28.4%) and orthodontists (23.9%). Eighteen different classification systems were in use. The most frequently used systems were the International Statistical Classification of Diseases and Related Health Problems (ICD-10) (35.5%), LAHSHAL (34.0%), and Veau (32.5%) classification systems. Most respondents (32.5%) indicated that anatomical and morphological characteristics are essential components of a classification system. However, respondents indicated that their current classification systems lacked sufficient description of cleft extension and severity. Conclusions: Great variety in the use of classification systems exists among craniofacial specialists internationally. The results recommend the usage of the LAHSHAL classification of OFCs, due to its comprehensiveness, relatively high implementation rate globally, convenience of usage and complementarity with the ICD-10 system. Moreover, it can overcome deficiencies inextricably linked to ICD-10, such as incapacity to describe laterality and clefts of the alveolus. More international exposure to the merits of using the LAHSHAL classification system would be highly recommended.
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