Table 2. Proportion of MS patients and HC in different risk categories and median wGRS with interquartile range (IQR) of MS and HC in each model (only HLA-DRB1, HLA-DRB1 + MS associations known in 2011 and HLA-DRB1 + all currently known MS associations).
Model considered | Group | Risk category | Median wGRS (IQR) | Mann-Whitney p | |||
Reduced | Average | Elevated | High | ||||
HLA-DRB1 | MS | 0 (0.0%) | 26 (37.1%) | 38 (54.3%) | 6 (8.6%) | 1.09 (0.00–1.09) | 4.36×10−7 |
HC | 0 (0.0%) | 62 (78.5%) | 15 (19.0%) | 2 (2.5%) | 0.00 (0.00–0.00) | ||
HLA-DRB1 + Old associations | MS | 14 (20%) | 46 (65.7%) | 6 (8.6%) | 4 (5.7%) | 9.14 (8.39–9.61) | 2.14×10−8 |
HC | 46 (58.2%) | 31 (39.2%) | 2 (2.5%) | 0 (0%) | 8.15 (7.74–8.68) | ||
HLA-DRB1 + All associations | MS | 6 (8.6%) | 29 (41.4%) | 14 (20.0%) | 21 (30.0%) | 13.47 (12.88–14.06) | 4.08×10−10 |
HC | 13 (16.5%) | 47 (59.5%) | 12 (15.2%) | 7 (8.9%) | 12.46 (11.88–12.91) |
In brief, the genotype at MS associated loci was used to assign each individual to the categories of risk identified using the simulated population from table 1. Furthermore, a weighted genetic risk (wGRS) was calculated by multiplying the number of risk alleles by the weight of each SNP and then taking the sum across all associations (see methods).