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P3‐287: TDP‐43 A315T mutation in familial motor neuron disease
Author(s) -
Gitcho Michael A.,
Baloh Robert H.,
Chakraverty Sumi,
Mayo Kevin,
Norton Joanne B.,
Levitch Denise,
Hatanpaa Kimmo J.,
White Charles H.,
Bigio Eileen H.,
Caselli Richard,
Baker Matt,
Al-Lozi Muhammad T.,
Morris John C.,
Pestronk Alan,
Rademakers Rosa,
Goate Alison M.,
Cairns Nigel J.
Publication year - 2008
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2008.05.1855
Subject(s) - amyotrophic lateral sclerosis , genetics , frontotemporal lobar degeneration , exon , missense mutation , biology , gene , mutation , frontotemporal dementia , disease , medicine , pathology , dementia
Prism 7000 Sequence Detection System. TaqMan SNP genotyping products and assays. Multinomial regression models were used to determine the risk of AD and MCI-AT. Results: The T and C alleles were not independent risk factors for AD and MCI-AT ( OR 1.22; CI95%, 0.35-4.21, OR 1.04; CI95%, 0.29-3.76, respectively). This was also the case for the TT, TC and CC genotypes. Neither UBQLN1 alleles nor genotypes were independent risk factors for AD or MCI-AT. Once adjusted for sex and the presence of apolipoprotein E4 (APOE4), our results did not reveal an association between UBQLN1 polymorphism and either AMCI-AT or AD. Conclusions: This is the first Spanish’s study which evaluates the role of UBQLN1 polymorphism in cognitive impairment. UBQLN1 polymorphism is not an independent risk factor for AD or MCI-AT.