Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome
| Autor: | Elaine H. Zackai, Peter Randall, Deborah A. Driscoll, Richard E. Kirschner, Donna M. McDonald-McGinn, Laura E. Mitchell, Torrey Boland, Beverly S. Emanuel, Don LaRossa, Cynthia Solot, Jeanne Manson |
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| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Palate Hard Velopharyngeal Insufficiency Chromosomes Human Pair 22 Cystathionine beta-Synthase Chromosome Disorders Bioinformatics 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase Polymorphism Single Nucleotide Article symbols.namesake 03 medical and health sciences Velopharyngeal insufficiency 0302 clinical medicine Sex Factors Genotype Ethnicity Medicine Humans 030223 otorhinolaryngology Child Fisher's exact test Methylenetetrahydrofolate Reductase (NADPH2) Genetics Velopharyngeal inadequacy Chi-Square Distribution business.industry Odds ratio 030206 dentistry Syndrome medicine.disease Phenotype Penetrance Cleft Palate Ferredoxin-NADP Reductase Otorhinolaryngology symbols Female Oral Surgery Chromosome Deletion business Chi-squared distribution |
| Popis: | Objective To evaluate potential modifiers of the palatal phenotype in individuals with the 22q11.2 deletion syndrome. Design Data from 356 subjects enrolled in a study of the 22q11.2 deletion syndrome were used to evaluate potential modifiers of the palatal phenotype. Specifically, subjects with and without velopharyngeal inadequacy and/or structural malformations of the palate were compared with respect to gender, race, and genotype for variants of seven genes that may influence palatal development. Methods The chi-square test or Fisher exact test was used to evaluate the association between palatal phenotype and each potential modifier. Odds ratios and their associated 95% confidence intervals were used to measure the magnitude of the association between palatal phenotype, subject gender and race, and each of the bi-allelic variants. Results The palatal phenotype observed in individuals with the 22q11.2 deletion syndrome was significantly associated with both gender and race. In addition, there was tentative evidence that the palatal phenotype may be influenced by variation within the gene that encodes methionine synthase. Conclusions Variation in the palatal phenotype observed between individuals with the 22q11.2 deletion syndrome may be related to personal characteristics such as gender and race as well as variation within genes that reside outside of the 22q11.2 region. |
| Databáze: | OpenAIRE |
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