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. 2025 Jan 4;13:1. doi: 10.1186/s40478-024-01909-6

Table 4.

Mendelian randomization analysis and replication results

Exposure Outcome MR analysis Replication
N SNPs Beta SE P value FDR N SNPs Beta SE p value
Case–control GWAS Alanine aminotransferase 20 − 0.024 0.012 0.041 0.057
Alkaline phosphatase 20 − 0.030 0.012 0.015 0.032*a
Apolipoprotein A 20 − 0.068 0.021 0.012 0.032* 20 − 0.003 0.022 0.895
Apolipoprotein B 19 0.126 0.054 0.019 0.032* 20 0.064 0.091 0.483
Cholesterol 20 0.082 0.035 0.019 0.032* 20 0.096 0.035 0.006*
C-reactive protein 20 − 0.192 0.064 0.003 0.032* 20 − 0.181 0.077 0.018*
Gamma glutamyltransferase 20 − 0.008 0.008 0.341 0.38
Haematocrit percentage 20 − 0.008 0.008 0.341 0.39
Haemoglobin concentration 20 − 0.001 0.004 0.803 0.803
HDL cholesterol 20 − 0.028 0.014 0.043 0.050
LDL direct 20 0.095 0.041 0.020 0.032* 20 0.093 0.040 0.020*
Monocyte count 20 − 0.006 0.008 0.475 0.50
Platelet count 20 − 0.020 0.008 0.014 0.032* 20 − 0.041 0.025 0.094
Platelet crit 20 − 0.025 0.010 0.014 0.032* 20 − 0.054 0.018 0.003*
Red blood cell (erythrocyte) count 20 − 0.014 0.005 0.007 0.032* 20 − 0.004 0.019 0.845
Red blood cell (erythrocyte) distribution width 20 − 0.037 0.013 0.004 0.032* 20 − 0.041 0.015 0.007*
Braak stage GWAS Apolipoprotein A 25 − 0.061 0.024 0.012 0.020* 26 − 0.063 0.022 0.004*
Apolipoprotein B 24 0.005 0.005 0.324 0.320
Cholesterol 24 0.007 0.006 0.256 0.320
C-reactive protein 25 − 0.176 0.058 0.002 0.008* 25 − 0.087 0.069 0.210
LDL direct 26 26.000 0.126 0.003 0.008* 26 0.133 0.042 0.002*

The table presents the results of a Mendelian Randomization (MR) analysis and subsequent replication studies investigating the causal relationships between genetic risk factors (exposures) from ncAD and Braak stage GWAS and various blood biomarkers (outcomes) identified from previous PheWAS analysis. Exposure: Either ncAD GWAS or Braak stage GWAS, representing the genetic risk factors being tested. Outcome: The specific blood biomarkers identified through PheWAS analysis, which are the traits being evaluated for causal relationships with the genetic exposures. Replication: Results from replication studies, including the number of SNPs (N SNPs), beta coefficient, standard error (SE), and p-value for select outcomes that were re-tested to confirm consistency in the results. This table focuses on the primary inverse variance-weighted (IVW) analysis, with additional methods and sensitivity tests available in Supplementary Table 8. An asterisk (*) indicates a significant cutoff; The letter "a" indicates that the replicate dataset is not available