Younkin, Steven G

Publication Detail

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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; et al. (Profiled Authors: Dickson, Dennis; Younkin, Steven G; Petersen, Ronald C)

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Nature genetics 2009;41(2):192-8.

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 x 10(-5) in stage 1, 4.8 x 10(-6) in stage 2 and 3.9 x 10(-12) in the combined data. Odds ratios were 1.75 (95% CI = 1.42-2.16) for female homozygotes (P = 2.0 x 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).

7 Originating Grant

• 1.

  YOUNKIN, STEVEN G

  Plasma AB as a Surrogate Genetic Marker for LOAD

  1 April 2000 - 31 May 2013

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 3,283,760

• 2.

  Dickson, Dennis William

  Tau and Neurodegeneration II: A therapeutic target

  1 September 1999 - 31 May 2010

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 4,182,608

• 3.

  Hutton, Michael L

  Tau and Neurodegeneration II: A therapeutic target

  1 September 1999 - 31 May 2010

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 8,997,034

• 4.

  PETERSEN, RONALD C

  Mayo Alzheimer's Disease Research Center

  1 May 1999 - 30 April 2014

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 25,743,859

• 5.

  PETERSEN, RONALD C

  Alzheimers Disease Patient Registry

  30 September 1986 - 31 August 2014

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 17,300,028

• 6.

  KATZMAN, ROBERT

  TEACHING NURSING HOME

  29 September 1982 - 31 August 1987

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 1,614,817

• 7.

  Kokmen, Emre

  ALZHEIMERS DISEASE PATIENT REGISTRY

  Total Funding: $ 3,948,430

Scientific Context

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