Table 5. Study Design and populations tested.
| STAGES | POPULATION EFFECTIVELY ASSESSED* | |
|---|---|---|
| sCJD CASES (N) | CONTROLS (N) | |
| Stage 1: Discovery | Germany (113) | |
| Genotyping method: Affymetrix 500k array | UK (269) | UK WTCCC controls (1482) |
| Number of SNPs effectively assessed 279389 | Netherlands (52) | Netherlands-RS controls (457) |
| Number of SNPs selected for replication: 23 | TOTAL sCJD (434) | TOTAL controls (1939) |
| Stage 2: Replication in independent sCJD Cases | Germany (284) | |
| Genotyping method: Sequenom iPLEX GOLD | Netherlands (76) | |
| Number of SNPs effectively assessed: 22 | Italy (292) | |
| Number of SNPs replicated: 5 | Australia (48) | |
| France (150) | ||
| Spain (203) | ||
| Austria (56) | ||
| TOTAL sCJD (1109) | ||
| Stage 3: Replication in independent Controls | Spain-USC (2193) | |
| Genotyping method: Sequenom iPLEX GOLD | Netherlands-RS (71) | |
| Number of SNPs effectively assessed: 5 | TOTAL controls (2264) | |
| Number of SNPs replicated: 2 | ||
| TOTAL controls (4203) | ||
| POOLED ANALYSIS | TOTAL sCJD (1543) | |
| Netherlands-RS (6192) | ||
| British in England and Scotland-10KG (137) | ||
| Controls added in analysis stratified by country | Toscani in Italy-10KG (385) | |
| Iberian populations in Spain-10KG (217) | ||
| Utah residents with Northern and Western European ancestry-10KG (290) | ||
| TOTAL sCJD (1543) | TOTAL controls (11424) | |
*Number of samples effectively genotyped that passed quality control
sCJD, sporadic Creutzfeldt-Jakob disease; WTCCC, Welcome Trust Case Control Consortium; RS, Rotterdam Study; USC, University of Santiago de Compostela; 10KG, 1000 Genome Project.