Troubles du spectre autistique (Matoba, 2020)

TITRE DE L'ÉTUDE : Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism

RÉSUMÉ : Discovery of a novel genomic region associated with autism spectrum disorder (ASD).

VUE D'ENSEMBLE : Autism spectrum disorder (ASD) is a condition that affects the brain’s development. It impacts social skills, speech, and learning. ASD is a highly heritable condition, yet previous studies have identified only a small number of genetic factors. This study found 5 regions in the genome associated with ASD by examining the genetic data of over 6,000 individuals of European, African, and East Asian ancestries. One of these regions had not been identified by any previous study. Interestingly, this newly-identified region has previously been connected to schizophrenia, bipolar disorder, and obsessive-compulsive disorder. The study further showed that genetic variation in this region may affect a gene called DDHD2, which plays a role in moving molecular cargo inside cells.

LE SAVIEZ-VOUS ? Symptoms of autism appear differently in males and females, and as result females with the condition often take longer to be diagnosed. [SOURCE]

LES RÉSULTATS DES ÉCHANTILLONS : En savoir plus sur le Bibliothèque de recherche sur les nébuleuses.

autism spectrum disorder sample results


VARIANTES ASSOCIÉES À L'ASD : rs1000177, rs716219, rs10099100, rs112436750, rs60527016

DES RESSOURCES SUPPLÉMENTAIRES :
Autism – causes, symptoms, diagnosis, treatment, pathology (Video)

QUI POURRAIENT ÉGALEMENT VOUS INTÉRESSER :
Autism spectrum disorder (Grove, 2016)

MISE À JOUR HEBDOMADAIRE : 18 août 2020


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