Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
1.
J Dent Res ; 97(5): 515-522, 2018 05.
Article in English | MEDLINE | ID: mdl-29364747

ABSTRACT

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.


Subject(s)
Anodontia/genetics , Anodontia/epidemiology , Anodontia/etiology , Female , Genome-Wide Association Study , Humans , Iceland/epidemiology , Male , Polymorphism, Single Nucleotide/genetics , Risk Factors
2.
Transl Psychiatry ; 7(4): e1109, 2017 04 25.
Article in English | MEDLINE | ID: mdl-28440815

ABSTRACT

Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.


Subject(s)
Cognition/physiology , DNA Copy Number Variations/genetics , Dyscalculia/genetics , Dyslexia/genetics , Intellectual Disability/genetics , Adolescent , Adult , Aged , Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 15/genetics , Developmental Disabilities/genetics , Female , Functional Neuroimaging/methods , Functional Neuroimaging/standards , Heterozygote , Humans , Iceland/epidemiology , Magnetic Resonance Imaging/methods , Male , Middle Aged , Neuropsychological Tests/standards , Phenotype , Temporal Lobe/anatomy & histology , Temporal Lobe/diagnostic imaging , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...