Table 1.
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] |
Updated from [118].
ND indicates that this information was not available for the denoted SNP. SNP, single nucleotide polymorphism; AD, Alzheimer’s disease; CN, cognitively normal.