We recently revealed that p.H157Y (rs2234255), a rare coding variant of triggering receptor
expressed on myeloid cells 2 gene (TREM2), was associated with Alzheimer’s disease (AD) susceptibility
in Han Chinese. Contrastingly, although p.H157Y was previously identified in both AD
cases and controls by several sequencing studies, no association of this variant with disease susceptibility
was reported. To gain a credible conclusion on the association between p.H157Y and AD risk,
a meta-analysis involving 7,102 cases and 7,408 controls was conducted. Our results indicated that
p.H157Y was associated with an increased risk of AD (OR=3.65, 95% CI: 1.61-8.28; P=0.002), further
establishing TREM2 as an important susceptibility gene for this disease.
Keywords: TREM2, Alzheimer’s disease, meta-analysis, p, H157Y, rs2234255, Variant.
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