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Paternal-age-related de novo mutations and risk for five disorders.

Abstract：

:There are established associations between advanced paternal age and offspring risk for psychiatric and developmental disorders. These are commonly attributed to genetic mutations, especially de novo single nucleotide variants (dnSNVs), that accumulate with increasing paternal age. However, the actual magnitude of risk from such mutations in the male germline is unknown. Quantifying this risk would clarify the clinical significance of delayed paternity. Using parent-child trio whole-exome-sequencing data, we estimate the relationship between paternal-age-related dnSNVs and risk for five disorders: autism spectrum disorder (ASD), congenital heart disease, neurodevelopmental disorders with epilepsy, intellectual disability and schizophrenia (SCZ). Using Danish registry data, we investigate whether epidemiologic associations between each disorder and older fatherhood are consistent with the estimated role of dnSNVs. We find that paternal-age-related dnSNVs confer a small amount of risk for these disorders. For ASD and SCZ, epidemiologic associations with delayed paternity reflect factors that may not increase with age.

journal_name

Nat Commun

journal_title

Nature communications

authors

Taylor JL,Debost JPG,Morton SU,Wigdor EM,Heyne HO,Lal D,Howrigan DP,Bloemendal A,Larsen JT,Kosmicki JA,Weiner DJ,Homsy J,Seidman JG,Seidman CE,Agerbo E,McGrath JJ,Mortensen PB,Petersen L,Daly MJ,Robinson EB

doi

10.1038/s41467-019-11039-6

subject

Has Abstract

pub_date

2019-07-10 00:00:00

pages

3043

issue

1

issn

2041-1723

pii

10.1038/s41467-019-11039-6

journal_volume

10

pub_type

杂志文章

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