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. Author manuscript; available in PMC: 2024 Apr 1.
Published in final edited form as: J Alzheimers Dis. 2022;86(1):5–19. doi: 10.3233/JAD-215306

Table 1.

ABCA7 SNPs associated with AD in various racial/ethnic groupsa

SNP Mutation Populations Associated with AD Frequencyb Effect Size Sources

rs3752232 Thr319Ala African American/Black 27.2% AD N’Songo et al. 2017 [40]
23.2% CN 1.24 Logue et al. 2018 [43]
rs3752239 Asn718Thr African American/Black 1.8% AD
0.4% CN
4.06 N’Songo etal. 2017 [40]
rs3752246 Gly1527Ala Multiple racial groups ND 1.35 Feheretal. 2019 [113];
Hollingworth et al. 2011 [44];
1.15 Naj etal. 2011 [45]
rs3764647 His395Arg African American/Black 26.2–29.8% AD 1.32 Logue et al. 2011 [39];
21.6–23.1% CN 1.29 Logue et al. 2018 [43]
1.47 N’Songo etal. 2017 [40]
rs3764650 Intron variant African American/Black ND Hohman et al. 2016 [24];
1.27 Logue et al. 2011 [39]
Asian 8.32 Li etal. 2017 [114];
1.09 Zhou etal. 2017 [115]
Colombian 1.7 Moreno et al. 2017 [37]
Non-Hispanic White 1.25 Almeida et al. 2018 [38];
1.25 Zhou etal. 2017 [115]
Multiple racial groups 1.23 Hollingworth et al. 2011 [44]
rs4147929 Danish ND 1.07 Kjeldsen et al. 2017 [35]
Non-Hispanic White 1.66 Monsell etal. 2017 [116]
Multiple racial groups 1.15 Lambert et al. 2013 [46]
rs59851484 African American/Black 14.8% AD
10.5% CN
1.49 Logue et al. 2018 [43]
rs78117248 Intron variant Belgian 3.8% AD 2.07 Cuyvers et al. 2015 [36]
1.8% CN
Non-Hispanic White ND 1.56 Kunkle etal. 2017 [117]
rs115550680 African American/Black ND 1.79 Reitz et al. 2013 [23]
rs142076058 Arg578Alafs African American/Black 9.2–15.2% AD 2.13 Cukier et al. 2016 [3]
7.4–9.7% CN 1.27 Logue et al. 2018 [43]
rs200538373 Splice donor variant Icelandic ND 1.91 Steinberg et al. 2015 [34]
Non-Hispanic White 2.12 Kunkle etal. 2017 [117]
rs567222111 Leu396fs African American/Black 1.1% AD
0.3% CN
2.42 Logue et al. 2018 [43]
a

Updated from [118].

b

ND indicates that this information was not available for the denoted SNP. SNP, single nucleotide polymorphism; AD, Alzheimer’s disease; CN, cognitively normal.