The Association between Neprilysin gene polymorphisms and Alzheimer's disease in Tibetan population

Objectives Alzheimer's disease (AD) is a well-known neurodegenerative disease, of which the hallmark is the disposition of beta-amyloid (A beta) in the form of plaque in the brain. Neprilysin (NEP) is the major enzyme to degrade A beta and prevent accumulation of A beta. The present study was undertaken to elucidate the correlation between the NEP gene polymorphisms and AD in Chinese Tibetan population. Methods Ninety-nine sporadic AD Tibetan patients and 113 healthy Tibetan controls were enrolled in this study. The genotype frequencies and allele frequencies of multiple NEP gene loci were analyzed using the case-control association analysis. Results No significant correlation was found between polymorphisms of NEP gene loci (rs9829757, rs1816558, rs6776185, rs3736187, rs701109, rs989692) and the occurrence of AD in Tibetan population. However, allele C of NEP gene locus (rs701109) and allele T of gene locus (rs3736187) were possible risk factors of male AD patients in Tibetan population. Conclusions NEP gene loci (rs701109, rs989692, rs9829757, rs3736187, rs1816558, rs6776185) were polymorphic in Tibetan population. No difference was found between these loci but for that male gender combined with allele C of NEP gene locus (rs701109) and T of gene locus (rs3736187) might be risk factors for AD in Tibet.