Rs5984894

rs5984894 is a SNP located within an intron of the protocadherin 11 PCDH11X gene, on the X chromosome.

A study of 2,391 patients with late-onset Alzheimer's disease reports that rs5984894 is particularly associated with increased risk for the disease in females, as compared to males. In this study, the patients were Americans of European descent, and 62% were female. Odds ratios were 1.75 (CI: 1.42–2.16) for female homozygotes (p = 2 x 10e-7) and 1.26 (CI: 1.05–1.51) for female heterozygotes (p = 0.01) compared to rs5984894(G;G) females.

For male rs5984894(-;A) hemizygotes (p = 0.07, which may mean this is insignificant since it is above the traditional cut-off of 0.05) compared to male rs5984894(-;G) noncarriers, the odds ratio was 1.18 (CI: 0.99–1.41).

A more recent and independent - but also smaller - study found no association between late-onset Alzheimer disease and rs5984894 in a 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".

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Intermediate phenotypes identify divergent pathways to Alzheimer's disease.


 * is_associated_with_disease::Alzheimer's disease