Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

被引：1

作者：

Boen, Rune ^{[1
,2
,3
]}

Kaufmann, Tobias ^{[2
,3
,4
,5
]}

van der Meer, Dennis ^{[2
,3
,6
]}

Frei, Oleksandr ^{[2
,3
,7
]}

Agartz, Ingrid ^{[8
,9
,10
,11
]}

Ames, David ^{[12
,13
]}

Andersson, Micael ^{[14
,15
]}

Armstrong, Nicola J. ^{[16
]}

Artiges, Eric ^{[17
,18
]}

Atkins, Joshua R. ^{[19
,20
,21
]}

Bauer, Jochen ^{[22
]}

Benedetti, Francesco ^{[23
,24
]}

Boomsma, Dorret I. ^{[25
]}

Brodaty, Henry ^{[26
]}

Brosch, Katharina ^{[27
]}

Buckner, Randy L. ^{[28
,29
,30
]}

Cairns, Murray J. ^{[19
,20
]}

Calhoun, Vince ^{[31
]}

Caspers, Svenja ^{[32
,33
,34
]}

Cichon, Sven ^{[32
,35
,36
]}

Corvin, Aiden P. ^{[37
]}

Crespo-Facorro, Benedicto ^{[38
,39
,40
]}

Dannlowski, Udo ^{[41
]}

David, Friederike S. ^{[42
,43
]}

de Geus, Eco J. C. ^{[25
]}

de Zubicaray, Greig I. ^{[44
]}

Desrivieres, Sylvane ^{[45
]}

Doherty, Joanne L. ^{[46
,47
]}

Donohoe, Gary ^{[48
,49
]}

Ehrlich, Stefan ^{[50
]}

Eising, Else ^{[51
]}

Espeseth, Thomas ^{[52
,53
]}

Fisher, Simon E. ^{[51
,54
]}

Forstner, Andreas J. ^{[32
,42
,43
]}

Fortaner-Uya, Lidia ^{[23
,24
]}

Frouin, Vincent ^{[55
]}

Fukunaga, Masaki ^{[56
]}

Ge, Tian ^{[57
,58
]}

Glahn, David C. ^{[59
,60
]}

Goltermann, Janik ^{[41
]}

Grabe, Hans J. ^{[61
]}

Green, Melissa J. ^{[62
,63
]}

Groenewold, Nynke A. ^{[64
]}

Grotegerd, Dominik ^{[41
]}

Grontvedt, Goril Rolfseng ^{[71
,121
]}

Hahn, Tim ^{[41
]}

Hashimoto, Ryota ^{[65
]}

Hehir-Kwa, Jayne Y. ^{[66
]}

Henskens, Frans A. ^{[67
,68
]}

Holmes, Avram J. ^{[69
,70
]}

机构：

[1] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[2] Oslo Univ Hosp, Norwegian Ctr Mental Disorders Res NORMENT, Div Mental Hlth & Addict, Oslo, Norway

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

[4] Univ Tubingen, Tubingen Ctr Mental Hlth, Dept Psychiat & Psychotherapy, Tubingen, Germany

[5] German Ctr Mental Hlth DZPG, Partner Site Tubingen, Tubingen, Germany

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

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

[8] Univ Oslo, Inst Clin Med, Norwegian Ctr Mental Disorders Res, Oslo, Norway

[9] Diakonhjemmet Hosp, Dept Clin Res, Oslo, Norway

[10] Karolinska Inst, Ctr Psychiat Res, Dept Clin Neurosci, Stockholm, Sweden

[11] Stockholm Hlth Care Serv, Stockholm, Sweden

[12] Univ Melbourne, Acad Unit Psychiat Old Age, St Georges Hosp, Kew, Vic 3101, Australia

[13] Natl Ageing Res Inst, Parkville, Vic, Australia

[14] Umea Univ, Dept Integrat Med Biol, Umea, Sweden

[15] Umea Univ, Umea Ctr Funct Brain Imaging, Umea, Sweden

[16] Curtin Univ, Dept Math & Stat, Perth, WA, Australia

[17] Univ Paris Saclay, INSERM, Ecole Normale Super Paris Saclay, U1299, Gif Sur Yvette, France

[18] Barthelemy Durand, EPS, Etampes, France

[19] Univ Newcastle, Coll Hlth Med & Wellbeing, Sch Biomed Sci & Pharm, Callaghan, NSW, Australia

[20] Hunter Med Res Inst, Precis Med Res Program, Newcastle, NSW, Australia

[21] Univ Oxford, Nuffield Dept Populat Hlth, Canc Epidemiol Unit, Oxford, England

[22] Univ Munster, Univ Clin Radiol, Munster, Germany

[23] Ist Ricovero & Cura Carattere Sci IRCCS San Raffa, Div Neurosci, Psychiat & Clin Psychobiol Unit, Milan, Italy

[24] Ist Ricovero & Cura Carattere Sci San Raffaele Sc, Div Neurosci, Psychiat & Clin Psychobiol Unit, Milan, Italy

[25] Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands

[26] Univ New South Wales, Sch Clin Med, Ctr Hlth Brain Ageing, Sydney, NSW, Australia

[27] Philipps Univ Marburg, Dept Psychiat & Psychotherapy, Marburg, Germany

[28] Harvard Univ, Dept Psychol, 33 Kirkland St, Cambridge, MA 02138 USA

[29] Harvard Univ, Ctr Brain Sci, Cambridge, MA 02138 USA

[30] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA

[31] Emory Univ, Georgia Inst Technol, Georgia State Univ, Triinst Ctr Translat Res Neuroimaging & Data Sci, Atlanta, GA 30322 USA

[32] Res Ctr Julich, Inst Neurosci & Med INM 1, Julich, Germany

[33] Heinrich Heine Univ Dusseldorf, Inst Anat 1, Fac Med, Dusseldorf, Germany

[34] Heinrich Heine Univ Dusseldorf, Univ Hosp Dusseldorf, Dusseldorf, Germany

[35] Univ Basel, Dept Biomed, Basel, Switzerland

[36] Univ Hosp Basel, Inst Med Genet & Pathol, CH-4031 Basel, Switzerland

[37] Trinity Coll Dublin, Dept Psychiat, Dublin, Ireland

[38] Hosp Univ Virgen Rocio, Inst Biomed Sevilla, CSIC, Seville, Spain

[39] Ctr Invest Biomed Red Salud Mental, Seville, Spain

[40] Univ Seville, Dept Psychiat, Seville, Spain

[41] Univ Munster, Inst Translat Psychiat, Munster, Germany

[42] Univ Bonn, Inst Human Genet, Sch Med, Bonn, Germany

[43] Univ Hosp Bonn, Bonn, Germany

[44] Queensland Univ Technol, Sch Psychol & Counselling, Brisbane, Qld, Australia

[45] Kings Coll London, Inst Psychiat Psychol & Neurosci, Social Genet & Dev Psychiat Ctr, London, England

[46] Cardiff Univ, Ctr Neuropsychiat Genet & Genom, Cardiff, Wales

[47] Cardiff Univ, Brain Res Imaging Ctr, Sch Psychol, Cardiff, Wales

[48] Univ Galway, Sch Psychol, Galway, Ireland

[49] Univ Galway, Ctr Neuroimaging Cognit & Genom, Galway, Ireland

[50] Tech Univ Dresden, Translat Dev Neurosci Sect, Div Psychol & Social Med & Dev Neurosci, Fac Med, Dresden, Germany

来源：

BIOLOGICAL PSYCHIATRY | 2024年 / 95卷 / 02期

关键词：

COPY NUMBER VARIANTS; SPECTRUM DISORDER; REACTION-TIME; AUTISM; GENES; RISK; ASD;

D O I：

10.1016/j.biopsych.2023.08.018

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

BACKGROUND: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.RESULTS: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, pos-terior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness. CONCLUSIONS: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.

引用

页码：147 / 160

页数：14

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