Table 3.
Summary of the three GWASs in different RHD populations.
| GWAS1 | GWAS2 | GWAS3 | |
|---|---|---|---|
| Population studied | Oceanian countries | Aboriginal Australians | South Asians & Europeans |
| Number of patients/control | First cohort (607 cases; 1,229 controls). Second cohort (399 cases; 617 controls) | 398 RHD cases; 865 controls | First cohort (672 cases; 491 controls from South Asians). Second cohort (150 cases; 1,309 controls from UK Biobank) |
| Platform used | Illumina HumanCore-24 BeadChip | Illumina HumanCoreExome BeadChips. | For the first cohort: Illumina HumanCore-24 BeadChip For the second cohort: the UK Biobank Axiom Array (Affymetrix) |
| Identified signals | IGHV4-61 gene | HLA-DQA1 locus | HLA class III, HLA class I (HLA-B) and HLA class II (HLA-DQB1) |
| Role | Risk allele IGHV4-61*02 | Risk haplotypes:DQA1*0101_DQB1*0503 and DQA1*0103_DQB1*0601Protective haplotype:DQA1*0301-DQB1*0402 | All risk alleles |
| Reference | (39) | (21) | (40) |