Background: Chromosome 9p21.3 polymorphism has been shown to affect susceptibility to Alzheimer's disease (AD) in Caucasians, while there are no studies on the association of chromosome 9p21.3 polymorphism with the risk of AD in Asians.
Methods: The study investigated 266 sporadic late-onset AD (LOAD) and 323 healthy controls matched for sex and age in a Han Chinese population. The common genetic variant (tagged by rs1333049, G/C) on chromosome 9p21.3 was genotyped using MALDI-TOF mass spectrometry.
Results: Patients with LOAD had higher frequencies of C allele (56.0% vs. 49.2%) compared with controls [odds ratio (OR) 1.31, 95% confidence interval (CI) 1.04-1.65, P=0.02]. After stratification by APOE epsilon4-carrying status, the C allele of rs1333049 was only significantly associated with LOAD in non-APOE epsilon4 allele carriers (OR 1.47, 95% CI 1.09-1.98, P<0.01). rs1333049 polymorphism was still strongly associated with LOAD [dominant model: OR 1.83, 95% CI 1.17-2.86, P<0.01; additive model: OR 1.38, 95% CI 1.05-1.80, P=0.02] after adjusting for the APOE epsilon4 carrier status and other vascular risk factors.
Conclusions: This study demonstrates an association of rs1333049 polymorphism locus on chromosome 9p21.3 with risk for LOAD in Han Chinese.
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