Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
复制标题
DOI：
10.1016/j.biopsych.2023.08.018
复制
发表时间：
2024-01-15
影响因子：
10.6
通讯作者：
ENIGMA-CNV Working Group
中科院分区：
文献类型：
--
作者：
Boen R;Kaufmann T;van der Meer D;Frei O;Agartz I;Ames D;Andersson M;Armstrong NJ;Artiges E;Atkins JR;Bauer J;Benedetti F;Boomsma DI;Brodaty H;Brosch K;Buckner RL;Cairns MJ;Calhoun V;Caspers S;Cichon S;Corvin AP;Crespo-Facorro B;Dannlowski U;David FS;de Geus EJC;de Zubicaray GI;Desrivières S;Doherty JL;Donohoe G;Ehrlich S;Eising E;Espeseth T;Fisher SE;Forstner AJ;Fortaner-Uyà L;Frouin V;Fukunaga M;Ge T;Glahn DC;Goltermann J;Grabe HJ;Green MJ;Groenewold NA;Grotegerd D;Grøntvedt GR;Hahn T;Hashimoto R;Hehir-Kwa JY;Henskens FA;Holmes AJ;Håberg AK;Haavik J;Jacquemont S;Jansen A;Jockwitz C;Jönsson EG;Kikuchi M;Kircher T;Kumar K;Le Hellard S;Leu C;Linden DE;Liu J;Loughnan R;Mather KA;McMahon KL;McRae AF;Medland SE;Meinert S;Moreau CA;Morris DW;Mowry BJ;Mühleisen TW;Nenadić I;Nöthen MM;Nyberg L;Ophoff RA;Owen MJ;Pantelis C;Paolini M;Paus T;Pausova Z;Persson K;Quidé Y;Marques TR;Sachdev PS;Sando SB;Schall U;Scott RJ;Selbæk G;Shumskaya E;Silva AI;Sisodiya SM;Stein F;Stein DJ;Straube B;Streit F;Strike LT;Teumer A;Teutenberg L;Thalamuthu A;Tooney PA;Tordesillas-Gutierrez D;Trollor JN;van 't Ent D;van den Bree MBM;van Haren NEM;Vázquez-Bourgon J;Völzke H;Wen W;Wittfeld K;Ching CRK;Westlye LT;Thompson PM;Bearden CE;Selmer KK;Alnæs D;Andreassen OA;Sønderby IE;ENIGMA-CNV Working Group
与非携带者相比，1q21.1远端和15q11.2 BP 1-BP 2 CNVs表现出区域和整体脑差异。然而，如果全球差异驱动区域大脑差异，解释区域差异是具有挑战性的。个体内变异性测量可用于测试大脑结构中超出全局差异的区域差异。磁共振成像数据用于获得1q21.1远端缺失（n=30）和重复（n=27），15q11.2 BP 1-BP 2缺失（n=170）和重复（n=243）携带者和匹配的非携带者（n=2,350）的局部脑值。区域内偏差（RID）评分，即，个体的区域差异和整体差异之间的标准化差异，用于检验与整体差异不同的区域差异。对于1q21.1远端缺失携带者，内侧视皮层、后扣带回和颞极区域的皮质表面积差异较小，前额叶和上级颞叶皮层区域的差异大于皮质表面积的全球差异。对于15q11.2BP1-BP 2缺失携带者，内侧视皮层、听觉皮层和颞极的皮层厚度差异较小，而前额叶和体感皮层的差异大于皮层厚度的整体差异。我们在1q21.1远端和15q11.2 BP 1-BP 2 CNVs中发现了超出全球脑测量差异的区域效应的证据。这些结果为1q21.1远端和15q11.2 BP 1-BP 2 CNVs的大脑分析提供了新的见解，有可能增加我们对神经发育改变机制的理解。
The 1q21.1 distal and 15q11.2 BP1-BP2 CNVs exhibit regional and global brain differences compared to non-carriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intra-individual variability measures can be used to test for regional differences beyond global differences in brain structure. 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 non-carriers (n=2,350). Regional intra-deviation (RID) 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. For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior 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. We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 CNVs. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 CNVs, with the potential to increase our understanding of mechanisms involved in altered neurodevelopment.
登录
查看更多内容
影响因子：
5
作者：
Fry A;Littlejohns TJ;Sudlow C;Doherty N;Adamska L;Sprosen T;Collins R;Allen NE
通讯作者：
Allen NE
DOI：
10.1080/13803390802232659
发表时间：
2009-01-01
影响因子：
2.2
作者：
Hilborn, Jennifer V.;Strauss, Esther;Hunter, Michael A.
通讯作者：
Hunter, Michael A.
DOI：
10.1002/ajmg.b.31055
发表时间：
2010-06-05
影响因子：
2.8
作者：
van der Zwaag, Bert;Staal, Wouter G.;Hochstenbach, Ron;Poot, Martin;Spierenburg, Henk A.;de Jonge, Maretha V.;Verbeek, Nienke E.;van't Slot, Ruben;van Es, Michael A.;Staal, Frank J.;Freitag, Christine M.;Buizer-Voskamp, Jacobine E.;Nelen, Marcel R.;van den Berg, Leonard H.;van Amstel, Hans K. Ploos;van Engeland, Herman;Burbach, J. Peter H.
通讯作者：
Burbach, J. Peter H.
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
7.7
作者：
Florio, Marta;Heide, Michael;Hiller, Michael
通讯作者：
Hiller, Michael