{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:24:32Z","timestamp":1785795872805,"version":"3.56.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,4,30]],"date-time":"2001-04-30T00:00:00Z","timestamp":988588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,5,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The activity of human phenylethanolamine N\u2010methyltransferase (PNMT) is reduced in the neurons of those cells in many subcortical areas of the brain that are known to undergo neurodegeneration in Alzheimer disease (AD). Others have reported that PNMT is decreased in brains of persons with AD and that the decrease in enzymatic activity is due to a reduced amount of the enzyme protein. We have previously described two polymorphisms, G\u2010353A and G\u2010148A, in the promoter region of the gene coding for PNMT. These markers were tested for their association with the occurrence of sporadic AD. Genotyping of 131 necropsy confirmed AD cases, and 947 adult nondemented controls were completed. We observed a significant association between both of the <jats:italic>PNMT<\/jats:italic> gene polymorphisms and early\u2010onset AD (EOAD) (<jats:italic>P<\/jats:italic>\u2009\u2264\u20090.007), but not in late\u2010onset AD (LOAD). These data suggest that genetic variation in the promoter of the <jats:italic>PNMT<\/jats:italic> gene is associated with increased susceptibility to the sporadic form of EOAD. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1363","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:46:32Z","timestamp":1030315592000},"page":"312-316","source":"Crossref","is-referenced-by-count":29,"title":["Phenylethanolamine N\u2010methyltransferase (<i>PNMT<\/i>) gene and early\u2010onset Alzheimer disease"],"prefix":"10.1002","volume":"105","author":[{"given":"Michael 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