The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2006
Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Driscoll Deborah A, Boland Torrey, Emanuel Beverly S, Kirschner Richard E, LaRossa Don, Manson Jeanne, McDonald-McGinn Donna, Randall Peter, Solot Cynthia, Zackai Elaine, Mitchell Laura E
Аннотация
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.
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.
Предметные рубрики MeSH
5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseChi-Square DistributionChildChromosome DeletionChromosome DisordersChromosomes, Human, Pair 22Cleft PalateCystathionine beta-SynthaseEthnicityFemaleFerredoxin-NADP ReductaseHumansMaleMethylenetetrahydrofolate Reductase (NADPH2)Palate, HardPhenotypePolymorphism, Single NucleotideSex FactorsSyndromeVelopharyngeal Insufficiency