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

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Region Hovedstaden - en del af Københavns Universitetshospital

E-pub ahead of print

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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@article{70c991a7028146c9a82163ca1a7078f0,

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

abstract = "Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelop-mental 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.",

author = "Labianca, {Sonja Marie Henriksen} and Jette Labianca and Pagsberg, {Anne Katrine} and Jakobsen, {Klaus Damgaard} and Vivek Appadurai and Alfonso Buil and Werge, {Thomas Mears}",

year = "2020",

month = "5",

day = "27",

language = "Dansk",

journal = "Journal of Autism and Developmental Disorders",

issn = "0162-3257",

publisher = "Springer New York LLC",

}

RIS

TY - JOUR

T1 - Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families

AU - Labianca, Sonja Marie Henriksen

AU - Labianca, Jette

AU - Pagsberg, Anne Katrine

AU - Jakobsen, Klaus Damgaard

AU - Appadurai, Vivek

AU - Buil, Alfonso

AU - Werge, Thomas Mears

PY - 2020/5/27

Y1 - 2020/5/27

N2 - Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelop-mental 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.

AB - Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelop-mental 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.

M3 - Tidsskriftartikel

JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

SN - 0162-3257

ER -

ID: 59938050

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

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