Abstract
Recently, a large meta-analysis of five genome wide association studies (GWAS) has identified that a novel single nucleotide polymorphism (SNP) rs2718058, adjacent to gene NME8 on chromosome 7p14.1, was associated with late-onset Alzheimer's disease (LOAD) in Caucasians. However, the effect of rs2718058 on other populations remains unclear. In order to explore the relationship between rs2718058 and LOAD risk in a North Han Chinese population, we recruited 984 LOAD cases and 1354 healthy controls that matched for sex and age in this study. The results showed no significant differences in the genotypic or allelic distributions of rs2718058 polymorphism between LOAD cases and healthy controls, even though after stratification for APOE ε4 status and statistical adjustment for age, gender and APOE ε4 status (p > 0.05). However, a meta-analysis conducted in a sample of 82513 individuals confirmed a significant association between SNP rs2718058 and LOAD risk (OR = 1.08, 95%CI = 1.05–1.11) in the whole population. But there was still no positive results in Chinese subgroup (OR = 1.05, 95%CI = 0.93–1.17). In conclusion, the rs2718058 near gene NME8 on chromosome 7p14.1 might not play a major role in the genetic predisposition to LOAD in the North Han Chinese.
Highlights
Alzheimer’s disease (AD) is the leading cause of dementia characterized by memory loss and other cognitive impairment in adults, with over 35 million people suffering from it throughout the world [1]
We studied 2338 ethnic Northern Han Chinese subjects including a total of 984 subjects with probable late-onset Alzheimer’s disease (LOAD) and 1354 healthy control subjects
The results of the multivariate logistic regression with adjustment for age, gender, and the carriage of at least one apolipoprotein E (APOE) ε4 allele failed to reveal any significant difference between LOAD and controls (Dominant: odds ratios (ORs) = 1.091, 95% confidence intervals (CIs) = 0.919~1.295, P = 0.319; Recessive: OR = 1.341, 95% CI = 0.927~1.941, P = 0.119; and Additive: OR = 1.106, 95%CI = 0.961~1.273, P = 0.160)
Summary
Alzheimer’s disease (AD) is the leading cause of dementia characterized by memory loss and other cognitive impairment in adults, with over 35 million people suffering from it throughout the world [1]. Great breakthrough has been made in exploration of the molecular genetics of AD. Three genes are identified to be associated with early-onset AD (EOAD): the amyloid-β precursor protein gene (APP), the presenilin 1 gene (PSEN1) and the presenilin 2 (PSEN2) gene [2]. The mutations of above genes are responsible for 30 to 50% of EOAD cases, and about 0.5% of AD. Only the ε4 allele of the apolipoprotein E (APOE) gene has been identified to relate with the risk of the more common LOAD [2]. The inheritance of the APOE ε4 allele only represents a minority of the underlying genetic effects, with about 50% of LOAD patients not carrying it [3]
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