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. 2022 Nov 17;14(24):9782–9804. doi: 10.18632/aging.204384

Table 3. Meta-analysis of the associations of compound genotypes with Alzheimer’s disease (AD) Aβ42 and tau biomarkers.

Biomarker Source Genotype N Beta SE P value Direction
Aβ42 CSF 0XY 59 0.026 0.055 6.37E-01 −+????
Aβ42 CSF 100+200 56 −0.272 0.057 2.13E-06 −−????
Aβ42 CSF 111+222 178 −0.341 0.039 2.46E-18 −−????
Aβ42 CSF 1XY+2XY 242 −0.373 0.037 2.18E-24 −−????
Aβ42 CSF 000 237 Reference
Aβ42 Plasma 0XY 951 0.351 0.364 3.35E-01 −?−−++
Aβ42 Plasma 100+200 396 −2.305 0.551 2.82E-05 −?−−−−
Aβ42 Plasma 111+222 1462 −1.582 0.312 4.14E-07 −?−−−−
Aβ42 Plasma 1XY+2XY 1821 −1.656 0.287 7.98E-09 −?−−−−
Aβ42 Plasma 000 5549 Reference
Tau CSF 0XY 70 0.088 0.050 7.97E-02 ++????
Tau CSF 100+200 56 0.233 0.056 2.85E-05 ++????
Tau CSF 111+222 189 0.293 0.035 4.87E-17 ++????
Tau CSF 1XY+2XY 253 0.294 0.032 6.75E-20 ++????
Tau CSF 000 326 Reference
Tau Plasma 0XY 647 0.009 0.013 4.91E-01 −?−+−?
Tau Plasma 100+200 289 −0.045 0.018 1.28E-02 +?−−−?
Tau Plasma 111+222 1033 −0.010 0.011 3.66E-01 +?−−−?
Tau Plasma 1XY+2XY 1280 −0.002 0.010 8.42E-01 +?−−−?
Tau Plasma 000 3913 Reference

Column “Genotype” shows compound genotypes encoded by triples of numbers and X and Y letters. Numbers show the counts of minor alleles (i.e., 0, 1, 2) in rs429358_T/c, rs2075650_A/g or rs12721046_G/a SNP, in that order. The upper/lower case denotes here major/minor allele. The most frequent 000 genotype denotes the major allele homozygote for all three SNPs, i.e., rs429358_TT, rs2075650_AA, rs12721046_GG. The 100+200 genotype indicates rs429358_Tc, rs2075650_AA, rs12721046_GG (100) and rs429358_cc, rs2075650_AA, rs12721046_GG (200). The 111+222 genotype denotes rs429358_Tc, rs2075650_Ag, rs12721046_Ga (111) and rs429358_cc, rs2075650_gg, rs12721046_aa (222). Letters X and Y indicate aggregation of minor alleles of rs2075650 and rs12721046, respectively. Then, 0XY aggregates all non-ε4 genotypes except 000. The 1XY+2XY genotype aggregates rs429358_Tc (1) and rs429358_cc (2) and all genotypes of rs2075650 (X) and rs12721046 (Y), except major allele homozygote of both SNPs, rs2075650_AA and rs12721046_GG (00), because it is included in the 100+200 genotype. Column “Direction” shows sign of the effect beta in individual studies in the following order: ADNI-1, ADNI-2/GO, FHS_C1, FHS_C2, FHS_C3, and ARIC. Question mark indicates missing estimates. Note, cerebrospinal fluid (CSF) biomarkers were available only in ADNI cohorts; plasma biomarkers were not available in ADNI-2/GO, and tau was not reported in ARIC. A gamma general linear model with a log link function was used for all biomarkers except Aβ42 measured in plasma. SE denotes standard error. More details with individual-study estimates are given Supplementary Table 5.