Genetic Polymorphisms of Ninjurin2 Gene and the Risk of Dementia

• Main Authors: Kun-Pei Lin, 林坤霈
• Other Authors: Yen-Ching Chen
• Format: Others
• Language: en_US
• Published: 2010
• Online Access: http://ndltd.ncl.edu.tw/handle/13558115085125289469

碩士 === 臺灣大學 === 流行病學研究所 === 98 === Background Accumulating evidences have showed that vascular risk factors, e.g., hypertension, diabetes mellitus and hyperlipidemia, may be related to the risk of dementia. This study investigated the association between genetic polymorphisms of a vascular susceptibility gene Ninjurin2 (NINJ2) and the risk of dementia, which has not been explored previously. The interactions between NINJ2 polymorphisms and other vascular risk factors on the risk of dementia were also explored. Methods A total of 280 Alzheimer’s disease (AD) patients and 122 vascular dementia (VaD) patients were recruited from three teaching hospitals from 2007 to 2010. Healthy controls (n = 422) from the health checkup clinics and volunteers at the hospitals were recruited during the same period of time. Five common (frequency > 5%) haplotype-tagging single nucleotide polymorphisms (htSNPs) in NINJ2 were genotyped to test for the association between sequence variants of NINJ2 and dementia. Results Homozygosity of two NINJ2 NPs was significantly associated with a decreased risk of AD [rs11833579: odds ratio (OR) = 0.44; 95% confidence interval (CI) = 0.24-0.81; rs12425791: OR = 0.39, 95% CI = 0.14-1.00]. Five common haplotypes (cumulative frequency, 97%) were observed. The global test for association between haplotypes and AD was significant (p = 0.03). Haplotype CAGGA was significantly associated with a decreased risk of AD (OR = 0.34, 95% CI = 0.12-0.94). Conclusion Inherited polymorphisms of the vascular susceptibility gene NINJ2 were associated with the risk of AD.