IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS
作者： Colleen P. Franconi , Donna McDonald-McGinn , Elaine H. Zackai , Meghan A. McNamara , Harold Salmons
DOI: 10.1002/AJMG.B.32492
关键词:
摘要: 22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by hemizygous deletion within 22q11.2. Patients with the display wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in typically deleted region and rendered individuals affected 22q11DS. COMT critical enzyme degradation catecholamine neurotransmitters brain. A functional polymorphism, Val158 Met, has been associated variety neurocognitive outcomes. In this study, 159 patients 22q11DS were analyzed for potential association between intelligence quotient (IQ) genotype. We performed univariate analysis overall influence modified our to focus on possible differences average, borderline, intellectually impaired patients. No correlation genotype IQ performance was found. © 2016 Wiley Periodicals, Inc.
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sci-hub.se 参考文章(24)
Solot C, McDonald-McGinn Dm, Emanuel Bs, Zackai Eh, Goldmuntz E, Heher K, Wang P, Gerdes M, Pasquariello P, Knightly C, Larossa D, Handler S, Sullivan K, Jacobs I, Kirschner R, Grace K, Moss E, Wilson M, Driscoll D, Eicher P, Randall P, Ming Je, The Philadelphia story: the 22q11.2 deletion: report on 250 patients Genetic Counseling. ,vol. 10, pp. 11- 24 ,(1999)
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B. Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Hervé, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung, Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni, François Vialard, Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies Prenatal Diagnosis. ,vol. 35, pp. 801- 809 ,(2015) , 10.1002/PD.4613
Donna M Mcdonald-Mcginn, Melissa K Tonnesen, Ayala Laufer-Cahana, Brenda Finucane, Deborah A Driscoll, Beverly S Emanuel, Elaine H Zackai, Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genetics in Medicine. ,vol. 3, pp. 23- 29 ,(2001) , 10.1097/00125817-200101000-00006
Doron Gothelf, Amanda J. Law, Amos Frisch, Jingshan Chen, Omer Zarchi, Elena Michaelovsky, Renee Ren-Patterson, Barbara K. Lipska, Miri Carmel, Bhaskar Kolachana, Abraham Weizman, Daniel R. Weinberger, Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Biological Psychiatry. ,vol. 75, pp. 406- 413 ,(2014) , 10.1016/J.BIOPSYCH.2013.07.021
J. Goodship, I. Cross, J. LiLing, C. Wren, A population study of chromosome 22q11 deletions in infancy Archives of Disease in Childhood. ,vol. 79, pp. 348- 351 ,(1998) , 10.1136/ADC.79.4.348
Kate Baker, Torsten Baldeweg, Sinthuja Sivagnanasundaram, Peter Scambler, David Skuse, COMT Val108/158Met Modifies Mismatch Negativity and Cognitive Function in 22q11 Deletion Syndrome Biological Psychiatry. ,vol. 58, pp. 23- 31 ,(2005) , 10.1016/J.BIOPSYCH.2005.03.020
Paul Julian Kersey, James E. Allen, Mikkel Christensen, Paul Davis, Lee J. Falin, Christoph Grabmueller, Daniel Seth Toney Hughes, Jay Humphrey, Arnaud Kerhornou, Julia Khobova, Nicholas Langridge, Mark D. McDowall, Uma Maheswari, Gareth Maslen, Michael Nuhn, Chuang Kee Ong, Michael Paulini, Helder Pedro, Iliana Toneva, Mary Ann Tuli, Brandon Walts, Gareth Williams, Derek Wilson, Ken Youens-Clark, Marcela K. Monaco, Joshua Stein, Xuehong Wei, Doreen Ware, Daniel M. Bolser, Kevin Lee Howe, Eugene Kulesha, Daniel Lawson, Daniel Michael Staines, Ensembl Genomes 2013: scaling up access to genome-wide data Nucleic Acids Research. ,vol. 42, pp. 546- 552 ,(2014) , 10.1093/NAR/GKT979
Michael F Egan, Terry E Goldberg, Tonya Gscheidle, Mary Weirich, Robert Rawlings, Thomas M Hyde, Llewellyn Bigelow, Daniel R Weinberger, Relative risk for cognitive impairments in siblings of patients with schizophrenia. Biological Psychiatry. ,vol. 50, pp. 98- 107 ,(2001) , 10.1016/S0006-3223(01)01133-7
Edward M. Moss, Mark L. Batshaw, Cynthia B. Solot, Marsha Gerdes, Donna M. McDonald-McGinn, Deborah A. Driscoll, Beverly S. Emanuel, Elaine H. Zackai, Paul P. Wang, Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern The Journal of Pediatrics. ,vol. 134, pp. 193- 198 ,(1999) , 10.1016/S0022-3476(99)70415-4
Doron Gothelf, Stephan Eliez, Tracy Thompson, Christine Hinard, Lauren Penniman, Carl Feinstein, Hower Kwon, Shuting Jin, Booil Jo, Stylianos E Antonarakis, Michael A Morris, Allan L Reiss, COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nature Neuroscience. ,vol. 8, pp. 1500- 1502 ,(2005) , 10.1038/NN1572