|(C;C)||0||common in clinvar|
|(C;T)||3||risk of Alzheimer's disease|
|(T;T)||3.5||risk of Alzheimer's disease|
In one study, the odds ratio for rs75932628(T) was 2.9 (CI: 2.09 to 4.09, P=3.42×10−10). The mutation had a frequency of 0.46% in controls 85 years of age or older. The authors also observed the association in additional sample sets (odds ratio, 2.90; 95% CI, 2.16 to 3.91; P=2.1×10−12 in combined discovery and replication samples), and found that carriers of rs75932628-T between the ages of 80 and 100 years without Alzheimer's disease had poorer cognitive function than noncarriers (P=0.003).[PMID 23150908]
In the other study, analysis of the rs75932628(T) in a series that included 1887 patients with Alzheimer's disease showed a strong, highly significant association (odds ratio, 5.05, CI: 2.77 to 9.16; P=9.0×10−9). Four other TREM2 gene variants (D87N, T66M, Y38C, and Q33X) were also associated with higher risk for a frontotemporal dementia–like syndrome when homozygous.[PMID 23150934]
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