Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers

Boen, R., Kaufmann, T., Van der Meer, D., Frei, O., Agartz, I., Ames, D., Andersson, M., Armstrong, N. J., Artiges, E., Atkins, J. R., Bauer, J., Benedetti, F., Boomsma, D. I., Brodaty, H., Brosch, K., Buckner, R. L., Cairns, M. J., Calhoun, V., Caspers, S., Cichon, S. and 96 moreBoen, R., Kaufmann, T., Van der Meer, D., Frei, O., Agartz, I., Ames, D., Andersson, M., Armstrong, N. J., Artiges, E., Atkins, J. R., Bauer, J., Benedetti, F., Boomsma, D. I., Brodaty, H., Brosch, K., Buckner, R. L., Cairns, M. J., Calhoun, V., Caspers, S., Cichon, S., Corvin, A. P., Crespo Facorro, B., Dannlowski, U., David, F. S., De Geus, E. J., De Zubicaray, G. I., Desrivières, S., Doherty, J. L., Donohoe, G., Ehrlich, S., Eising, E., Espeseth, T., Fisher, S. E., Forstner, A. J., Fortaner Uyà, L., Frouin, V., Fukunaga, M., Ge, T., Glahn, D. C., Goltermann, J., Grabe, H. J., Green, M. J., Groenewold, N. A., Grotegerd, D., Hahn, T., Hashimoto, R., Hehir-Kwa, J. Y., Henskens, F. A., Holmes, A. J., Haberg, A. K., Haavik, J., Jacquemont, S., Jansen, A., Jockwitz, C., Jonsson, E. G., Kikuchi, M., Kircher, T., Kumar, K., Le Hellard, S., Leu, C., Linden, D. E., Liu, J., Loughnan, R., Mather, K. A., McMahon, K. L., McRae, A. F., Medland, S. E., Meinert, S., Moreau, C. A., Morris, D. W., Mowry, B. J., Muhleisen, T. W., Nenadić, I., Nöthen, M. M., Nyberg, L., Owen, M. J., Paolini, M., Paus, T., Pausova, Z., Persson, K., Quidé, Y., Reis Marques, T., Sachdev, P. S., Sando, S. B., Schall, U., Scott, R. J., Selbæk, G., Shumskaya, E., Silva, A. I., Sisodiya, S. M., Stein, F., Stein, D. J., Straube, B., Streit, F., Strike, L. T., Teumer, A., Teutenberg, L., Thalamuthu, A., Tooney, P. A., Tordesillas-Gutierrez, D., Trollor, J. N., Van 't Ent, D., Van den Bree, M. B. M., Van Haren, N. E. M., Vazquez-Bourgon, J., Volzke, H., Wen, W., Wittfeld, K., Ching, C. R., Westlye, L. T., Thompson, P. M., Bearden, C. E., Selmer, K. K., Alnæs, D., Andreassen, O. A., & Sonderby, I. E. (2024). Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers. Biological Psychiatry, 95(2), 147-160. doi:10.1016/j.biopsych.2023.08.018.
Background

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.

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 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.

Results

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.

Conclusion

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.
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Publication type
Journal article
Publication date
2024
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