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PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

Beecham, Gary W.a; Naj, Adam C.a; Gilbert, John R.a; Haines, Jonathan L.b; Buxbaum, Joseph D.c; Pericak-Vance, Margaret A.a

doi: 10.1097/YPG.0b013e32833b635d
Brief Reports

A recent genome-wide association study and follow-up shows significant association with the protocadherin 11 X-linked (PCDH11X) gene. Carrasquillo et al. (2009) show statistical association with four PCDH11X polymorphisms (rs5984894, rs2573905, rs5941047, rs4568761) in five of seven cohorts. The combined analysis of 2356 cases and 2384 controls showed the strongest association with a P value of 2.2×10−7 with an allele-specific odds ratio of 1.30 (95% confidence interval, 1.18–1.43) at the rs5984894 polymorphism. We tested for association at these four single nucleotide polymorphisms in two independent datasets and then performed a joint analysis. Although we had adequate power to detect effect sizes with the reported odds ratios, we did not detect association between late-onset Alzheimer disease and the PCDH11X polymorphisms in our dataset of 889 cases and 850 controls, indicating that the PCDH11X association, if not a false positive, is not as strong or generalized as hypothesized earlier.

aJohn P. Hussman Institute for Human Genomics and the Dr John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida

bCenter for Human Genetics Research, Vanderbilt University, Nashville, Tennesse

cLaboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, USA

Correspondence to Dr Gary W. Beecham, PhD, John P. Hussman Institute for Human Genomics, 1501 NW 10th Avenue, BRB 417, M860, Miami, FL 33136, USA

Tel: +1 305 243 7965; fax: +1 305 243 2396;


Received 18 September 2009 Revised 12 April 2010 Accepted 23 April 2010

© 2010 Lippincott Williams & Wilkins, Inc.