Population-based ASD Cohort from Denmark

The iPSYCH ASD sample is a part of a population based case-cohort sample extracted from a baseline cohort¹⁰ consisting of all children born in Denmark between May 1^st 1981 and December 31^st 2005. Eligible were singletons born to a known mother and resident in Denmark on their one-year birthday. Cases were identified from the Danish Psychiatric Central Research Register (DPCRR)^{12 (link)}, which includes data on all individuals treated in Denmark at psychiatric hospitals (from 1969 onwards) as well as at outpatient psychiatric clinics (from 1995 onwards). Cases were diagnosed with ASD in 2013 or earlier by a psychiatrist according to ICD10, including diagnoses of childhood autism (ICD10 code F84.0), atypical autism (F84.1), Asperger’s syndrome (F84.5), other pervasive developmental disorders (F84.8), and pervasive developmental disorder, unspecified (F84.9). As controls we selected a random sample from the set of eligible children excluding those with an ASD diagnosis by 2013.
The samples were linked using the unique personal identification number to the Danish Newborn Screening Biobank (DNSB) at Statens Serum Institute (SSI), where DNA was extracted from Guthrie cards and whole genome amplified in triplicates as described previously^{13 (link),97}. Genotyping was performed at the Broad Institute of Harvard and MIT (Cambridge, MA, USA) using the PsychChip array from Illumina (CA, San Diego, USA) according to the instructions of the manufacturer. Genotype calling of markers with minor allele frequency (MAF) > 0.01 was performed by merging callsets from GenCall⁹⁸ and Birdseed⁹⁹ while less frequent variants were called with zCall¹⁰⁰. Genotyping and data processing was carried out in 23 waves.
All analyses of the iPSYCH sample and joint analyses with the PGC samples were performed at the secured national GenomeDK high performance-computing cluster in Denmark.
The study was approved by the Regional Scientific Ethics Committee in Denmark and the Danish Data Protection Agency.

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Grove J., Ripke S., Als T.D., Mattheisen M., Walters R.K., Won H., Pallesen J., Agerbo E., Andreassen O.A., Anney R., Awashti S., Belliveau R., Bettella F., Buxbaum J.D., Bybjerg-Grauholm J., Bækvad-Hansen M., Cerrato F., Chambert K., Christensen J.H., Churchhouse C., Dellenvall K., Demontis D., De Rubeis S., Devlin B., Djurovic S., Dumont A.L., Goldstein J.I., Hansen C.S., Hauberg M.E., Hollegaard M.V., Hope S., Howrigan D.P., Huang H., Hultman C.M., Klei L., Maller J., Martin J., Martin A.R., Moran J.L., Nyegaard M., Nærland T., Palmer D.S., Palotie A., Pedersen C.B., Pedersen M.G., Poterba T., Poulsen J.B., St Pourcain B., Qvist P., Rehnström K., Reichenberg A., Reichert J., Robinson E.B., Roeder K., Roussos P., Saemundsen E., Sandin S., Satterstrom F.K., Smith G.D., Stefansson H., Steinberg S., Stevens C.R., Sullivan P.F., Turley P., Walters G.B., Xu X., Stefansson K., Geschwind D.H., Nordentoft M., Hougaard D.M., Werge T., Mors O., Mortensen P.B., Neale B.M., Daly M.J, & Børglum A.D. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature genetics, 51(3), 431-444.

Publication 2019

Asperger syndrome Autism Born Children Diagnosis Genome Joint Mother Pervasive developmental disorder Psychiatrist Regional ethics committee Serum

Corresponding Organization :

Other organizations : Lundbeck Foundation, Harvard University, Massachusetts General Hospital, University of North Carolina at Chapel Hill, University of Oslo, Cardiff University, Charité - Universitätsmedizin Berlin, Broad Institute, Icahn School of Medicine at Mount Sinai, Karolinska Institutet, University of Pittsburgh, Aarhus University, Max Planck Institute for Psycholinguistics, Wellcome Sanger Institute, Carnegie Mellon University, University of Bristol, MRC Epidemiology Unit, deCODE Genetics (Iceland), University of California, Los Angeles

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Protocol cited in 15 other protocols

Variable analysis

independent variables

None explicitly mentioned

dependent variables

Autism Spectrum Disorder (ASD) diagnosis

control variables

Singleton birth
Known mother
Resident in Denmark on one-year birthday

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