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. 2018 May 3;27(4):317–322. doi: 10.1159/000489779

Table 5.

Summary of all variant screening studies of TREM2 in patients with Alzheimer's disease (AD)

Ethnicity AD patients TREM2 variants in AD patients
exon 2 exon 3 exon 4
Caucasian 256 European + 836 North
American [5]
Q33X, Y38C, R47H, R62H, T66M, D87N,
T96K, R98W
R136Q, H157Y -
117 Norwegian + 944 Dutch + R47H - -
517 German + 3,759 Icelandic +
399 US [4]
726 French [13] Q33X, R47H, R62H, R62C, D87N, T96K - -
427 American [14] R47H - -
504 Spanish [15] R47H, R62H - -
3,172 Spanish [16] R47H - -
1,216 Belgian [11] D39G, D39E, R47H, G58A, R62H, D87N,
T96K
L133L, H157Y S162R, L211P,
T223I
2,082 US [10] Q33X, R47H, R52H, R62H, T66M, D87N,
T96K
R136W, R136Q,
H157Y
W191X, E202D,
L211P, H215Q,
T223I
210 North American [17] R47H, D87N, H157Y L205P, G219C

East Asian 1,133 Chinese [18] V34V, C110C, H114H, G115S - -
360 Chinese [19] A130V - -
988 Chinese [20] - H157Y S183C, A192T
400 Korean [21] - H157Y A192T
2,190 Japanese [22] R47H, H157Y L211P

African American 899 African American [23] R47H, R62H, D87N E151K, W191X, L211P

Others 131 Iranian [24] R47H, G55R, R62H, R62C - -

Variations significantly associated with AD are underlined.