Siwei Chen1, Dunzhu Mima2, Haiqiang Jin1, Qu Dan3, Fei Wang4, Juan Cai4, Lin Shi5, Huali Wang6, Ailian Du7, Ying Tang4, Yongan Sun1. 1. Department of Neurology, Peking University First Hospital, Beijing, China. 2. Department of Neurology, People's Hospital of Tibet Autonomous Region, Tibet Autonomous Region, China. 3. Clinical Laboratory, People's Hospital of Tibet Autonomous Region, Tibet Autonomous Region, China. 4. Department of Neurology, Harbin Medical University First Hospital, Harbin, China. 5. Shenzhen BrainNow Research Institute, Shenzhen, China. 6. Beijing Dementia Key Lab, National Clinical Research Center for Mental Disorders, Peking University Institute of Mental Health (Sixth Hospital), Beijing, China. 7. Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Abstract
OBJECTIVES: Alzheimer's disease (AD) is a well-known neurodegenerative disease, of which the hallmark is the disposition of β-amyloid (Aβ) in the form of plaque in the brain. Neprilysin (NEP) is the major enzyme to degrade Aβ and prevent accumulation of Aβ. 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.
OBJECTIVES: Alzheimer's disease (AD) is a well-known neurodegenerative disease, of which the hallmark is the disposition of β-amyloid (Aβ) in the form of plaque in the brain. Neprilysin (NEP) is the major enzyme to degrade Aβ and prevent accumulation of Aβ. 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.
Authors: Yinxing Liu; Christa Studzinski; Tina Beckett; Hanjun Guan; Matthew A Hersh; M Paul Murphy; Ronald Klein; Louis B Hersh Journal: Mol Ther Date: 2009-05-26 Impact factor: 11.454
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