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000268518 1001_ $$aHong, Eun Pyo$$b0
000268518 245__ $$aModification of Huntington's disease by short tandem repeats.
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000268518 520__ $$aExpansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual HTT CAG repeat length (i.e. residual age-at-onset), is modified by repeat instability-related DNA maintenance/repair genes as demonstrated by recent genome-wide association studies. Modification of one polyglutamine disease (e.g. Huntington's disease) by the repeat length of another (e.g. ATXN3, CAG expansions in which cause spinocerebellar ataxia 3) has also been hypothesized. Consequently, we determined whether age-at-onset in Huntington's disease is modified by the CAG repeats of other polyglutamine disease genes. We found that the CAG measured repeat sizes of other polyglutamine disease genes that were polymorphic in Huntington's disease participants but did not influence Huntington's disease age-at-onset. Additional analysis focusing specifically on ATXN3 in a larger sample set (n = 1388) confirmed the lack of association between Huntington's disease residual age-at-onset and ATXN3 CAG repeat length. Additionally, neither our Huntington's disease onset modifier genome-wide association studies single nucleotide polymorphism data nor imputed short tandem repeat data supported the involvement of other polyglutamine disease genes in modifying Huntington's disease. By contrast, our genome-wide association studies based on imputed short tandem repeats revealed significant modification signals for other genomic regions. Together, our short tandem repeat genome-wide association studies show that modification of Huntington's disease is associated with short tandem repeats that do not involve other polyglutamine disease-causing genes, refining the landscape of Huntington's disease modification and highlighting the importance of rigorous data analysis, especially in genetic studies testing candidate modifiers.
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000268518 650_7 $$2Other$$aHuntington’s disease
000268518 650_7 $$2Other$$aHuntington’s disease
000268518 650_7 $$2Other$$aHuntington’s disease
000268518 650_7 $$2Other$$aATXN3
000268518 650_7 $$2Other$$aHuntington’s disease
000268518 650_7 $$2Other$$agenetic modification
000268518 650_7 $$2Other$$apolyglutamine disease
000268518 650_7 $$2Other$$ashort tandem repeat
000268518 7001_ $$aRamos, Eliana Marisa$$b1
000268518 7001_ $$0P:(DE-2719)2812578$$aAziz, N Ahmad$$b2$$udzne
000268518 7001_ $$aMassey, Thomas H$$b3
000268518 7001_ $$aMcAllister, Branduff$$b4
000268518 7001_ $$aLobanov, Sergey$$b5
000268518 7001_ $$aJones, Lesley$$b6
000268518 7001_ $$aHolmans, Peter$$b7
000268518 7001_ $$aKwak, Seung$$b8
000268518 7001_ $$aOrth, Michael$$b9
000268518 7001_ $$00000-0002-7663-4080$$aCiosi, Marc$$b10
000268518 7001_ $$aLomeikaite, Vilija$$b11
000268518 7001_ $$00000-0002-8298-8264$$aMonckton, Darren G$$b12
000268518 7001_ $$aLong, Jeffrey D$$b13
000268518 7001_ $$aLucente, Diane$$b14
000268518 7001_ $$aWheeler, Vanessa C$$b15
000268518 7001_ $$aGillis, Tammy$$b16
000268518 7001_ $$aMacDonald, Marcy E$$b17
000268518 7001_ $$aSequeiros, Jorge$$b18
000268518 7001_ $$00000-0003-0681-9263$$aGusella, James F$$b19
000268518 7001_ $$00000-0001-5799-0787$$aLee, Jong-Min$$b20
000268518 773__ $$0PERI:(DE-600)3020013-1$$a10.1093/braincomms/fcae016$$gVol. 6, no. 2, p. fcae016$$n2$$pfcae016$$tBrain communications$$v6$$x2632-1297$$y2024
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