rs10504229 - LINC00588

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. - Pediatrics (2017) · Kornilov SA, Rakhlin N, Koposov R, Lee M, Yrigollen C, Caglayan AO, Magnuson JS, Mane S, Chang JT, Grigorenko EL · PubMed 27016271

  Developmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample). DNA samples were collected from 359 individuals for the genome-wide association study and from 12 severely affected individuals for whole exome sequencing. Multifaceted phenotypes, representing major domains of expressive language functioning, were derived from collected speech samples. Gene-based analyses revealed a significant association between SETBP1 and complexity of linguisti

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