Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families

被引：0
作者：
Sonja LaBianca
Jette LaBianca
Anne Katrine Pagsberg
Klaus Damgaard Jakobsen
Vivek Appadurai
Alfonso Buil
Thomas Werge
机构：
[1] Sct. Hans Hospital,Institute of Biological Psychiatry
[2] Mental Health Center Capital Region of Denmark,Child and Adolescent Mental Health Centre
[3] The Lundbeck Foundation Initiative for Integrative Psychiatric Research,undefined
[4] iPSYCH,undefined
[5] Psychiatric Specialist Clinic,undefined
[6] Mental Health Services in the Capital Region of Denmark,undefined
[7] Psychiatric Specialist Clinic,undefined
来源：
Journal of Autism and Developmental Disorders | 2021年 / 51卷
关键词：
Autism spectrum disorder; Attention deficit/hyperactivity disorder; Comorbidity; Families; Copy number variants; Polygenic risk score;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two.
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页码：276 / 285
页数：9
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