Single nucleotide polymorphism rs7294919 on chromosome 12q24.22 is associated with late-onset Alzheimer's disease in Han Chinese

Recently, two large genome-wide association studies (GWASs) have identified several variants at 12q14 and 12q24 which are associated with hippocampal volume, one of the most important biological markers of Alzheimer's disease (AD). The strongest association was reported for the rs7294919 polymorphism on chromosome 12q24.22. In order to explore whether rs7294919 polymorphism was also associated with late-onset AD (LOAD) risk, we recruited 1132 LOAD patients and 1159 sex- and age-matched healthy controls in the study. The results showed that rs7294919 polymorphism was significantly associated with LOAD (genotype P < 0.01, allele P = 0.02). After stratification by APOE, significant difference was only observed in non-APOE ɛ4 carriers (P = 0.01). Logistic regression demonstrated that the C allele at rs7294919 was a risk factor for LOAD in dominant and recessive models after adjusting for age, gender and the APOE ɛ4 carrier status. In conclusion, our study demonstrates an association of rs7294919 polymorphism locus on chromosome 12q24.22 with risk for LOAD in Han Chinese.