The impact of genetic variations on cerebrospinal fluid markers in Alzheimer's disease.

BACKGROUND

Growth factor receptor-bound protein-associated binding protein 2 gene () has been regarded as one of the susceptibility gene associated with Alzheimer's disease (AD). However, the role of polymorphisms on cerebrospinal fluid (CSF) proteins in AD continuum remains unclear.

METHODS

We evaluated the connection between four single nucleotide polymorphisms (SNPs) of and AD-related CSF biomarkers including amyloid β (Aβ), total tau (T-tau) and phosphorylated tau (P-tau) level in 627 Alzheimer's Disease Neuroimaging Initiative (ADNI) subjects.

RESULTS

rs1385600 and rs1007837 were significantly associated with all the three biomarkers in CSF (rs1385600: Aβ Pc =0.0112, T-tau Pc =0.0356, P-tau Pc =0.0116; rs1007837: Aβ Pc =0.0058, T-tau Pc =0.0278, P-tau Pc =0.0231). rs2373115 only showed significant association with Aβ and P-tau (Aβ, Pc=0.0398, P-tau, Pc=0.0329). rs10793294 showed no significant association with all the three biomarkers.

CONCLUSIONS

Our study suggested that variants were significantly associated with the level of the three CSF biomarkers, which further supported that genetic variation modulates AD risk via the alteration of both Aβ and tau pathology.