{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:28:06Z","timestamp":1790299686901,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,5,15]],"date-time":"2008-05-15T00:00:00Z","timestamp":1210809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2009,1,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PPP2R2B, a protein widely expressed in neurons throughout the brain, regulates the protein phosphatase 2A (PP2A) activity for the microtubule\u2010associated protein tau and other substrates. Altered PP2A activity has been implicated in spinocerebellar ataxia 12, Alzheimer's disease (AD), and other tauopathies. Through a case\u2010control study and a reporter assay, we investigated the association of <jats:italic>PPP2R2B<\/jats:italic> CAG repeat polymorphism with Taiwanese AD, essential tremor (ET), Parkinson's disease (PD), and schizophrenia and clarified the functional implication of this polymorphism. The distribution of the alleles was not significantly different between patients and controls, with 68.6\u201376.1% alleles at lengths of 10, 13, and 16 triplets. No expanded alleles were detected in either group. However, the frequency of the individuals carrying the short 5\u2010, 6\u2010, and 7\u2010triplet alleles was notably higher in patients with AD (5\/180 [2.8%], Fisher's exact test, <jats:italic>P<\/jats:italic>\u2009=\u20090.003; including 2 homozygotes) and ET (4\/132 [3.0%], Fisher's exact test, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) than in the controls (1\/625 [0.2%]). The <jats:italic>PPP2R2B<\/jats:italic> transcriptional activity was significantly lower in the luciferase reporter constructs containing the (CAG)<jats:sub>5\u20137<\/jats:sub> allele than in those containing the common 10\u2010, 13\u2010, and 16\u2010triplet alleles in both neuroblastoma and embryonic kidney cells. Therefore, our preliminary results suggest that the <jats:italic>PPP2R2B<\/jats:italic> gene CAG repeat polymorphism may be functional and may, in part, play a role in conferring susceptibility to AD and ET in Taiwan. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30785","type":"journal-article","created":{"date-parts":[[2008,5,15]],"date-time":"2008-05-15T14:51:00Z","timestamp":1210863060000},"page":"124-129","source":"Crossref","is-referenced-by-count":30,"title":["<i>PPP2R2B<\/i> CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional 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