Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population

Protocadherin 11X (Pcdh11X) has been suspected to be associated with Alzheimer's disease through participating in the metabolism of PP1α and β-catenin or by altering the synaptic functions. A recent genome-wide association study reported that a common single nucleotide polymorphism (SNP, rs5984894) in the gene encoding Pcdh11X was associated with susceptibility to late-onset Alzheimer's disease (LOAD) in Caucasians. In order to assess the involvement of the PCDH11X polymorphism in the risk of developing AD in Chinese, we analyzed the genotype and allele distributions of the PCDH11X rs5984894 polymorphism in a Han Chinese population (355 LOAD cases and 399 healthy controls). Our results failed to find any significant association between the tested SNP and LOAD, indicating that PCDH11X gene polymorphism does not play a major role in the genetic predisposition to LOAD in this Han Chinese population.

Research Highlights
► PCDH11X rs5984894 polymorphism was not associated with LOAD risk in Chinese.
► The female homozygotes tended to be a risk factor for LOAD (OR = 2.9, P = 0.19).
► The female heterozygotes tended to be a protective factor for LOAD (OR = 0.81, P = 0.39).
► The male hemizygotes tended to be a protective factor for LOAD (OR = 0.67, P = 0.29).
► ApoE ε4 allele was associated with an increased risk of LOAD (P < 0.001).