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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

作者信息

Ganna Andrea, Genovese Giulio, Howrigan Daniel P, Byrnes Andrea, Kurki Mitja, Zekavat Seyedeh M, Whelan Christopher W, Kals Mart, Nivard Michel G, Bloemendal Alex, Bloom Jonathan M, Goldstein Jacqueline I, Poterba Timothy, Seed Cotton, Handsaker Robert E, Natarajan Pradeep, Mägi Reedik, Gage Diane, Robinson Elise B, Metspalu Andres, Salomaa Veikko, Suvisaari Jaana, Purcell Shaun M, Sklar Pamela, Kathiresan Sekar, Daly Mark J, McCarroll Steven A, Sullivan Patrick F, Palotie Aarno, Esko Tõnu, Hultman Christina, Neale Benjamin M

机构信息

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

出版信息

Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3.

DOI:10.1038/nn.4404
PMID:27694993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5127781/
Abstract

Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants of YOE in the general population.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/773828ef09d0/nihms-815431-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/81fef04c552a/nihms-815431-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/f7d6314c44f9/nihms-815431-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/773828ef09d0/nihms-815431-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/81fef04c552a/nihms-815431-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/f7d6314c44f9/nihms-815431-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d91/5127781/773828ef09d0/nihms-815431-f0003.jpg

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本文引用的文献

[1]
Analysis of protein-coding genetic variation in 60,706 humans.

Nature. 2016-8-18

[2]
Genome-wide association study identifies 74 loci associated with educational attainment.

Nature. 2016-5-26

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Nat Genet. 2016-5

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Nat Genet. 2015-10

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Nature. 2015-7-23

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Nat Genet. 2015-3

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Nature. 2014-11-13

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Proc Natl Acad Sci U S A. 2014-10-21

[10]
A framework for the interpretation of de novo mutation in human disease.

Nat Genet. 2014-9

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