Fig. 1

Diverse TREM2 variants are associated with NDDs. Genetic variants in the TREM2 gene (shown above) result in diverse changes in the protein structure (shown below). These variants occur in almost every exon (black boxes) and impact known protein motifs (sequences highlighted in blue) and flank many sites of known protein modifications (amino acid number and type of modification detailed inside black boxes). TREM2 variants have been found to be significantly associated with many NDDs, including AD (variants shown in yellow), FTD or FTLD (pink), PD (purple) and PLOSL (red). The table shows genetic variants that have been found to be significantly associated with disease risk, with supporting references shown in dark green and references that provide strong counterevidence shown in red. References shown in light green did find a significant association between the TREM2 variant and disease risk, but only in one or multiple populations they examined or only after inclusion of previously published literature into metastudy analyses. While these variants have been significantly associated with disease risk, many more studies find suggestive but not significant associations between additional TREM2 variants and NDD risk which are not represented here [5, 6, 16, 18, 26, 28, 30, 31, 35,36,37, 39,40,41,42, 45,46,47, 49,50,51,52, 54, 55, 57, 58, 60, 64, 65, 67, 70, 82, 83, 88, 131, 323,324,325]