AUTHOR=Wang Lijun , Jiao Yang , Zhao Aonan , Xu Xiaomeng , Ye Guanyu , Zhang Yichi , Wang Ying , Deng Yulei , Xu Wei , Liu Jun 

TITLE=Analysis of Genetic Association Between ABCA7 Polymorphism and Alzheimer’s Disease Risk in the Southern Chinese Population

JOURNAL=Frontiers in Aging Neuroscience

VOLUME=14

YEAR=2022

URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2022.819499

DOI=10.3389/fnagi.2022.819499

ISSN=1663-4365

ABSTRACT=<sec><title>Objective</title><p>The study aimed to clarify the association of the 21 single nucleotide polymorphisms (SNPs) with Alzheimer’s disease (AD) in the population of southern China.</p></sec><sec><title>Methods</title><p>A case-control study was conducted with a total sample size of 490 subjects (246 patients with AD and 244 age- and gender-matched healthy controls) enrolled in this study. Twenty-one selected SNPs were detected using SNaPshot assay and polymerase chain reaction (PCR) technique. Then, we assessed how these SNPs correlated with AD susceptibility.</p></sec><sec><title>Results</title><p>The results showed that rs3764650 of <italic>ABCA7</italic> was closely correlated with risen AD morbidity in the allele [<italic>P</italic> = 0.010, odds ratio (OR) = 1.43, 95% confidence interval (CI) 1.09–1.89], dominant (<italic>P</italic> = 0.004, OR = 1.71, 95% CI 1.19–2.46), and additive (<italic>P</italic> = 0.012, OR = 1.42, 95% CI 1.08–1.86) models. However, rs4147929 of <italic>ABCA7</italic> was related to higher AD risk in the allele (<italic>P</italic> = 0.006, OR = 1.45, 95% CI 1.11–1.89), dominant (<italic>P</italic> = 0.012, OR = 1.59, 95% CI 1.11–2.27), and additive (<italic>P</italic> = 0.010, OR = 1.40, 95% CI 1.08–1.81) models. In addition, the frequencies of the G-allele at rs3764650 (<italic>P</italic> = 0.030) and the A-allele at rs4147929 (<italic>P</italic> = 0.001) in AD were statistically higher in <italic>APOE</italic> ε4 carriers in comparison to non-carriers.</p></sec><sec><title>Conclusion</title><p>This study demonstrated that the G-allele at rs3764650 and the A-allele at rs4147929 appeared at higher risk for developing AD, particularly in <italic>APOE</italic> ε4 carriers. Moreover, it was observed that rs3764650 and rs4147929 of <italic>ABCA7</italic> were linked to AD. More in-depth research with a relatively large sample is needed to make the results more convincing.</p></sec>