Spinocerebellar ataxia type 12 (SCA12): Additional evidence for a causative role of the CAG repeat expansion in PPP2R2B.
AMERICAN JOURNAL OF HUMAN GENETICS
Authors: Holmes, SE; Fujigasaki, H; O'Hearn, E; Antonarakis, SE; Cooper, JK; Callahan, C; Hwang, J; Gorelick-Feldman, D; Verma, IC; Saxena, R; Durr, A; Brice, A; Ross, CA; Margolis, RL
Abstract
Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population
NEUROSCIENCE LETTERS
Authors: Kimura, Ryo; Morihara, Takashi; Kudo, Takashi; Kamino, Kouzin; Takeda, Masatoshi
Abstract
We analyzed the association between PPP2R2B gene CAG repeat length and Alzheimer disease (AD) susceptibility in the Japanese population. Blood samples were collected from 218 late-onset AD patients and 86 controls. DNA fragments containing the target GAG repeat region were amplified using polymerase chain reaction (PCR). PCR products were sequenced using ABI PRISM 310 genetic analyzer. The mean CAG repeat length did not differ significantly between the control and AD groups. In contrast, the frequency of CAG repeats shorter than 15 was significantly higher in AD group, specifically in the AD with APOE4 subgroup, than in the control group. The results suggest that CAG repeat lengths in the PPP2R2B gene may be potential genetic markers for AD susceptibility in the Japanese population. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
COA
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