Microduplications of 16p11.2 are associated with schizophrenia Export

@article{citeulike:6008712, abstract = {Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders1, 2, 3. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63\%) cases and 1/3,971 (0.03\%) controls (P = 1.2 10-5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34\%) cases and 1/2,420 (0.04\%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95\% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 10-7), bipolar disorder (P = 0.017) and autism (P = 1.9 10-7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 10-13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).}, author = {McCarthy, Shane E. and Makarov, Vladimir and Kirov, George and Addington, Anjene M. and McClellan, Jon and Yoon, Seungtai and Perkins, Diana O. and Dickel, Diane E. and Kusenda, Mary and Krastoshevsky, Olga and Krause, Verena and Kumar, Ravinesh A. and Grozeva, Detelina and Malhotra, Dheeraj and Walsh, Tom and Zackai, Elaine H. and Kaplan, Paige and Ganesh, Jaya and Krantz, Ian D. and Spinner, Nancy B. and Roccanova, Patricia and Bhandari, Abhishek and Pavon, Kevin and Lakshmi, B. and Leotta, Anthony and Kendall, Jude and Lee, Yoon-ha and Vacic, Vladimir and Gary, Sydney and Iakoucheva, Lilia M. and Crow, Timothy J. and Christian, Susan L. and Lieberman, Jeffrey A. and Stroup, T. Scott and Lehtimaki, Terho and Puura, Kaija and Haldeman-Englert, Chad and Pearl, Justin and Goodell, Meredith and Willour, Virginia L. and DeRosse, Pamela and Steele, Jo and Kassem, Layla and Wolff, Jessica and Chitkara, Nisha and McMahon, Francis J. and Malhotra, Anil K. and Potash, James B. and Schulze, Thomas G. and Nothen, Markus M. and Cichon, Sven and Rietschel, Marcella and Leibenluft, Ellen and Kustanovich, Vlad and Lajonchere, Clara M. and Sutcliffe, James S. and Skuse, David and Gill, Michael and Gallagher, Louise and Mendell, Nancy R. and Craddock, Nick and Owen, Michael J. and O'Donovan, Michael C. and Shaikh, Tamim H. and Susser, Ezra and DeLisi, Lynn E. and Sullivan, Patrick F. and Deutsch, Curtis K. and Rapoport, Judith and Levy, Deborah L. and King, Mary-Claire and Sebat, Jonathan}, citeulike-article-id = {6008712}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.474}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng.474}, day = {25}, doi = {10.1038/ng.474}, issn = {1061-4036}, journal = {Nature Genetics}, keywords = {mir, mirs, qprt, schizophrenia}, month = {October}, number = {11}, pages = {1223--1227}, posted-at = {2009-11-03 21:48:37}, priority = {2}, publisher = {Nature Publishing Group}, title = {Microduplications of 16p11.2 are associated with schizophrenia}, url = {http://dx.doi.org/10.1038/ng.474}, volume = {41}, year = {2009} }

TY - JOUR ID - citeulike:6008712 L3 - citeulike-article-id:6008712 N2 - Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders1, 2, 3. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 10-5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 10-7), bipolar disorder (P = 0.017) and autism (P = 1.9 10-7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 10-13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007). IS - 11 JF - Nature Genetics SN - 1061-4036 EP - 1227 TI - Microduplications of 16p11.2 are associated with schizophrenia PB - Nature Publishing Group VL - 41 SP - 1223 KW - mir KW - mirs KW - qprt KW - schizophrenia AU - McCarthy, Shane AU - Makarov, Vladimir AU - Kirov, George AU - Addington, Anjene AU - McClellan, Jon AU - Yoon, Seungtai AU - Perkins, Diana AU - Dickel, Diane AU - Kusenda, Mary AU - Krastoshevsky, Olga AU - Krause, Verena AU - Kumar, Ravinesh AU - Grozeva, Detelina AU - Malhotra, Dheeraj AU - Walsh, Tom AU - Zackai, Elaine AU - Kaplan, Paige AU - Ganesh, Jaya AU - Krantz, Ian AU - Spinner, Nancy AU - Roccanova, Patricia AU - Bhandari, Abhishek AU - Pavon, Kevin AU - Lakshmi, B AU - Leotta, Anthony AU - Kendall, Jude AU - Lee, Yoon-ha AU - Vacic, Vladimir AU - Gary, Sydney AU - Iakoucheva, Lilia AU - Crow, Timothy AU - Christian, Susan AU - Lieberman, Jeffrey AU - Stroup, Scott AU - Lehtimaki, Terho AU - Puura, Kaija AU - Haldeman-Englert, Chad AU - Pearl, Justin AU - Goodell, Meredith AU - Willour, Virginia AU - DeRosse, Pamela AU - Steele, Jo AU - Kassem, Layla AU - Wolff, Jessica AU - Chitkara, Nisha AU - McMahon, Francis AU - Malhotra, Anil AU - Potash, James AU - Schulze, Thomas AU - Nothen, Markus AU - Cichon, Sven AU - Rietschel, Marcella AU - Leibenluft, Ellen AU - Kustanovich, Vlad AU - Lajonchere, Clara AU - Sutcliffe, James AU - Skuse, David AU - Gill, Michael AU - Gallagher, Louise AU - Mendell, Nancy AU - Craddock, Nick AU - Owen, Michael AU - O'Donovan, Michael AU - Shaikh, Tamim AU - Susser, Ezra AU - DeLisi, Lynn AU - Sullivan, Patrick AU - Deutsch, Curtis AU - Rapoport, Judith AU - Levy, Deborah AU - King, Mary-Claire AU - Sebat, Jonathan PY - 2009/10/25/ UR - http://dx.doi.org/10.1038/ng.474 ER -