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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

 Ji-Hyun Lee  ;  Jong-Min Leea  ;  Eliana Marisa Ramos  ;  Tammy Gillis  ;  Jayalakshmi S. Mysore  ;  Shotaro Kishikawa  ;  Tiffany Hadzi  ;  Audrey E. Hendricks  ;  Michael R. Hayden  ;  Patrick J. Morrison  ;  Martha Nance  ;  Christopher A. Ross  ;  Russell L. Margolis  ;  Ferdinando Squitieri  ;  Cinzia Gellera  ;  Estrella Gomez-Tortosa  ;  Carmen Ayuson  ;  Oksana Suchowersky  ;  Ronald J. Trent  ;  Elizabeth McCusker  ;  Andrea Novelletto  ;  Marina Frontali  ;  Randi Jones  ;  Tetsuo Ashizawa  ;  Samuel Frank  ;  Marie-Helene Saint-Hilaire  ;  Steven M. Hersch  ;  Herminia D. Rosas  ;  Diane Lucente  ;  Madaline B. Harrison 
 Biochemical and Biophysical Research Communications, Vol.424(3) : 404-408, 2012 
Journal Title
 Biochemical and Biophysical Research Communications 
Issue Date
3' Untranslated Regions/genetics ; Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Alleles ; Child ; Child, Preschool ; Codon, Terminator/genetics* ; Female ; Humans ; Huntington Disease/genetics* ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Kainic Acid/genetics* ; Trinucleotide Repeats/genetics* ; Young Adult
Huntington’s disease (HD) ; Age at onset ; GRIK2 ; Genetic modifier
Huntington's disease is a neurodegenerative disorder caused by an expanded CAG trinucleotide repeat whose length is the major determinant of age at onset but remaining variation appears to be due in part to the effect of genetic modifiers. GRIK2, which encodes GluR6, a mediator of excitatory neurotransmission in the brain, has been suggested in several studies to be a modifier gene based upon a 3' untranslated region TAA trinucleotide repeat polymorphism. Prior to investing in detailed studies of the functional impact of this polymorphism, we sought to confirm its effect on age at onset in a much larger dataset than in previous investigations. We genotyped the HD CAG repeat and the GRIK2 TAA repeat in DNA samples from 2,911 Huntington's disease subjects with known age at onset, and tested for a potential modifier effect of GRIK2 using a variety of statistical approaches. Unlike previous reports, we detected no evidence of an influence of the GRIK2 TAA repeat polymorphism on age at motor onset. Similarly, the GRIK2 polymorphism did not show significant modifier effect on psychiatric and cognitive age at onset in HD. Comprehensive analytical methods applied to a much larger sample than in previous studies do not support a role for GRIK2 as a genetic modifier of age at onset of clinical symptoms in Huntington's disease.
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5. Research Institutes (연구소) > Research Center for Human Natural Defense System (생체방어연구센터) > 1. Journal Papers
Yonsei Authors
Lee, Ji Hyun(이지현)
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