The genetic architecture of human cortical folding

被引：62

作者：

van der Meer, Dennis ^{[1
,2
,3
]}

Kaufmann, Tobias ^{[1
,2
,4
]}

Shadrin, Alexey A. ^{[1
,2
]}

Makowski, Carolina ^{[5
]}

Frei, Oleksandr ^{[1
,2
,6
]}

Roelfs, Daniel ^{[1
,2
]}

Monereo-Sanchez, Jennifer ^{[3
]}

Linden, David E. J. ^{[3
,7
]}

Rokicki, Jaroslav ^{[1
,2
,8
]}

Alnaes, Dag ^{[1
,2
,9
]}

de Leeuw, Christiaan ^{[10
]}

Thompson, Wesley K. ^{[11
]}

Loughnan, Robert ^{[5
]}

Fan, Chun Chieh ^{[5
]}

Westlye, Lars T. ^{[1
,2
,8
,12
]}

Andreassen, Ole A. ^{[1
,2
,12
]}

Dale, Anders M. ^{[1
,2
,5
]}

机构：

[1] Univ Oslo, Oslo Univ Hosp, NORMENT Ctr, Div Mental Hlth & Addict, Oslo, Norway

[2] Univ Oslo, Inst Clin Med, Oslo, Norway

[3] Maastricht Univ, Fac Hlth Med & Life Sci, Sch Mental Hlth & Neurosci, Maastricht, Netherlands

[4] Univ Tubingen, Dept Psychiat & Psychotherapy, Tubingen, Germany

[5] Univ Calif San Diego, Ctr Multimodal Imaging & Genet, La Jolla, CA 92037 USA

[6] Univ Oslo, Ctr Bioinformat, Dept Informat, Oslo, Norway

[7] Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, Cardiff, Wales

[8] Univ Oslo, Dept Psychol, Oslo, Norway

[9] Bjorknes Coll, Oslo, Norway

[10] Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Complex Trait Genet, Amsterdam, Netherlands

[11] Univ Calif San Diego, Herbert Wertheim Sch Publ Hlth & Human Longev Sci, La Jolla, CA 92037 USA

[12] Univ Oslo, KG Jebsen Ctr Neurodev Disorders, Oslo, Norway

来源：

SCIENCE ADVANCES | 2021年 / 7卷 / 51期

基金：

美国国家卫生研究院; 欧洲研究理事会;

关键词：

CEREBRAL-CORTEX; TANGENTIAL EXPANSION; ABNORMALITIES; GYRIFICATION; VARIABILITY; GUIDANCE; PROFILE;

D O I：

10.1126/sciadv.abj9446

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust yet understudied measure of localized folding, previously associated with multiple neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the multivariate omnibus statistical test (MOSTest) applied to vertex-wise measures from 33,748 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 x 10(-8)). Comparisons with cortical thickness and surface area indicated that sulcal depth has higher locus yield, heritability, and effective sample size. There was a large amount of genetic overlap between these traits, with gene-based analyses indicating strong associations with neurodevelopmental processes. Our findings demonstrate sulcal depth is a promising neuroimaging phenotype that may enhance our understanding of cortical morphology.

引用

页数：9

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