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Table 1 Results of the joint-analysis of 6 follow-up SNPs in TREM2

From: TREM2 is associated with increased risk for Alzheimer’s disease in African Americans

Variant SNP Position AD cases Controls p OR (95% CI) Missing (%) SIFT PolyPhen-2
No. of cases No. of carriers MAF (%) No. of controls No. of carriers MAF (%)
p.R47H rs75932628 6:41129252 899 2 0.11 2,471 3 0.06 0.61 1.83 (0.31-10.98) 0.7 Tolerated Damaging
p.R62H rs143332484 6:41129207 899 3 0.17 2,476 11 0.22 1 0.75 (0.20-2.69) 0.5 Tolerated Benign
p.D87N rs142232675 6:41129133 888 1 0.06 2,473 2 0.04 1 1.39 (0.13-15.37) 0.9 Tolerated Damaging
p.E151K rs79011726 6:41127561 867 6 0.35 2,467 7 0.16 0.22 2.14 (0.74-6.17) 1.7 Tolerated Damaging
p.W191X rs2234258 6:41126429 884 68 3.96 2,475 145 2.97 0.08‡ 1.35 (0.97-1.87) 1 NA NA
p.L211P rs2234256 6:41126655 888 210 12.67 2,472 529 11.1 0.01‡ 1.27 (1.05-1.54) 1 Tolerated Benign
  1. These analyses only used samples from Washington University, Mayo Clinic, Indiana University, WHICAP, and Emory University. Positions are relative to the human genome build GRCh37. The Fisher’s exact test was used to calculate the p values and effect sizes for p.R47H, p.R62H, p.D87N, and p.E151K using PLINK. ‡Multivariate logistic regression was performed to evaluate the association of p.W191X and p.L211P with AD risk adjusting for age, gender, APOE genotype, and cohorts.