Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

Minerva M Carrasquillo, Fanggeng Zou, V. Shane Pankratz, Samantha L. Wilcox, Li Ma, Louise P. Walker, Samuel G. Younkin, Curtis S. Younkin, Linda H. Younkin, Gina D. Bisceglio, Nilufer Taner, Juliana Crook, Dennis W Dickson, Ronald Carl Petersen, Neill R Graff Radford, Steven G Younkin

Research output: Contribution to journalArticle

211 Scopus citations


By analyzing late-onset Alzheimer's disease (LOAD) in a genome-wide association study (313,504 SNPs, three series, 844 cases and 1,255 controls) and evaluating the 25 SNPs with the most significant allelic association in four additional series (1,547 cases and 1,209 controls), we identified a SNP (rs5984894) on Xq21.3 in PCDH11X that is strongly associated with LOAD in individuals of European descent from the United States. Analysis of rs5984894 by multivariable logistic regression adjusted for sex gave global P values of 5.7 × 10-5 in stage 1, 4.8 × 10-6 in stage 2 and 3.9 × 10-12 in the combined data. Odds ratios were 1.75 (95% CI = 1.42-2.16) for female homozygotes (P = 2.0 × 10-7) and 1.26 (95% CI = 1.05-1.51) for female heterozygotes (P = 0.01) compared to female noncarriers. For male hemizygotes (P = 0.07) compared to male noncarriers, the odds ratio was 1.18 (95% CI = 0.99-1.41).

Original languageEnglish (US)
Pages (from-to)192-198
Number of pages7
JournalNature Genetics
Issue number2
StatePublished - Feb 2009


ASJC Scopus subject areas

  • Genetics

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