Table 1.
Replication of TRs previously associated with Alzheimer's disease
| TRs previously associated with AD | ||||
|---|---|---|---|---|
| Region | Chr 19:44921096–44921134 | Chr 11:47775208–47775243 | Chr 19:1049436–1050066 | Chr 14:52832909–52832938 |
| Gene | APOC1 | SPI1 | ABCA7 | FERMT2 |
| Best model | Joint alleles | Short alleles | Joint alleles | Short alleles |
| Beta (OR) | 0.38 (1.46) | −0.03 (0.97) | 8.63 × 10−5 (1.01) | 0.01 (1.01) |
| P-value | 2.6 × 10−9 | 6.5 × 10−3 | 0.041 | 0.27 |
| Original study | 38014121 | 37745545 | 29589097 | 37745545 |
| Original OR | NA | −0.01 (0.99) | 4.5 | 0.01 (1.01) |
| Original model | Longer allele | Joint alleles | Individuals with alleles >5720 bp | Joint alleles |
| Original method | Logistic regression | Mixed linear models | Fisher's exact | Mixed linear models |
| Original P-value | 4.3 × 10−10 | NA | 0.008 | NA |
| Original samples | 1489 AD versus 1492 controls | 6328 AD versus 6580 controls | 275 AD versus 177 controls | 6328 AD versus 6580 controls |
| Data type | Short-read sequencing | Short-read sequencing | Southern blot | Short-read sequencing |
Region: genomic coordinates of the TR with respect to GRCh38; Gene: the closest gene as reported in the original publications; Best model: model that yielded the most significant association, in our comparison: short allele, long allele, or joint alleles size; Beta (OR): effect size and relative Odds Ratio with respect to AD: an increased TR size leads to increased AD risk for positive estimates; P-value: P-value of association. We used logistic regression models using TR size (short allele, long allele, and combined allele size) as predictor for AD case-control status, using 246 AD patients (cases) and 248 cognitively healthy centenarians (controls); Original study: the PubMed ID of the original study; Original OR: the odds ratio as reported in the original study; Original model: model used for association in the original study; Original method: method used for association in the original study; Original P-value: the P-value reported in the original study; Original samples: the number of AD cases and controls used in the original study; Data type: the data on which the association were identified.
(TR) Tandem repeat, (AD) Alzheimer's disease.