| Titre : |
Common Genetic Variants in Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Richard ANNEY, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.155-167 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASD) have been shown to be highly heritable. In order to understand the genetic risk loci underpinning the heritability estimates, investigators have employed a range of genetic approaches. This chapter examines the approaches that have been applied to identify common variation that may confer risk to individuals with ASD, from linkage studies to positional and biological candidate gene association strategies and finally genome-wide association studies. A number of promising risk loci and genes have been identified; however these findings are tempered by a lack of robust validation. There are a number of challenges to unambiguously identifying common variants that influence the risk of developing ASD since the evidence indicates that common risk variants are likely to be of small effect. Recent large collaborative efforts in schizophrenia and bipolar disorder show that improvements in study power and design can successfully lead to the identification of such risk loci. Future studies in ASD will require tens of thousands of families to identify risk variation of small effect. However, additional advances in genome coverage, sampling, and study design can also be applied to identify those genes and pathways important in the etiology of ASD. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
Common Genetic Variants in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Richard ANNEY, Auteur . - 2013 . - p.155-167. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASD) have been shown to be highly heritable. In order to understand the genetic risk loci underpinning the heritability estimates, investigators have employed a range of genetic approaches. This chapter examines the approaches that have been applied to identify common variation that may confer risk to individuals with ASD, from linkage studies to positional and biological candidate gene association strategies and finally genome-wide association studies. A number of promising risk loci and genes have been identified; however these findings are tempered by a lack of robust validation. There are a number of challenges to unambiguously identifying common variants that influence the risk of developing ASD since the evidence indicates that common risk variants are likely to be of small effect. Recent large collaborative efforts in schizophrenia and bipolar disorder show that improvements in study power and design can successfully lead to the identification of such risk loci. Future studies in ASD will require tens of thousands of families to identify risk variation of small effect. However, additional advances in genome coverage, sampling, and study design can also be applied to identify those genes and pathways important in the etiology of ASD. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
|
Common Genetic Variants in Autism Spectrum Disorders