Summary of HLA-B allele families and their linked leader types in cohort 1
| Existing reference alleles (IMGT) . | Genomic sequence-based observations (cohort 1) . | ||||
|---|---|---|---|---|---|
| Allele family (leader) . | Minor allele(s) . | Major alleles . | Minor allele(s) . | Total . | |
| HLA-B (leader) . | Count . | HLA-B (leader) . | Count (broad race*) . | ||
| HLA-B*07 (M) | HLA-B*07:65 (T) | 251 053 | 251 055 | ||
| HLA-B*07:271 (T) | |||||
| HLA-B*07:371 (V) | HLA-B*07:371 (V) | 1 (White) | |||
| HLA-B*07:390 (T) | HLA-B*07:390† (T) | 1 (White) | |||
| HLA-B*08 (M) | — | 199 301 | HLA-B*08:207† (T) | 1 (White) | 199 302 |
| HLA-B*13 (T) | HLA-B*13:117 (M) | 54 456 | HLA-B*13:117 (M) | 1 (Asian or Pacific Islander) | 54 457 |
| HLA-B*14 (M) | — | 84 890 | — | — | 84 890 |
| HLA-B*15 (T) | HLA-B*15:68 (M) | 190 429 | HLA-B*15:68 (M) | 2 (Asian or Pacific Islander, multirace) | 190 431 |
| HLA-B*15:180 (M) | |||||
| HLA-B*18 (T) | — | 95 598 | HLA-B*18:01:01† (M) | 2 (White) | 95 600 |
| HLA-B*27 (T) | — | 78 897 | — | — | 78 897 |
| HLA-B*35 (T) | — | 235 193 | HLA-B*35:01:01† (M) | 33 (31 White, 2 multirace) | 235 226 |
| HLA-B*37 (T) | — | 29 684 | — | — | 29 684 |
| HLA-B*38 (M) | — | 45 774 | — | — | 45 774 |
| HLA-B*39 (M) | — | 69 503 | — | — | 69 504 |
| HLA-B*40 (T) | HLA-B*40:416 (M) | 142 805 | HLA-B*40:416 (M) | 2 (White, American Indian or Alaskan Native) | 142 807 |
| HLA-B*41 (T) | — | 17 724 | — | — | 17 724 |
| HLA-B*42 (M) | — | 11 772 | — | — | 11 772 |
| HLA-B*44 (T) | — | 215 355 | — | — | 215 355 |
| HLA-B*45 (T) | — | 17 870 | — | — | 17 870 |
| HLA-B*46 (T) | — | 9781 | — | — | 9781 |
| HLA-B*47 (T) | — | 4074 | — | — | 4074 |
| HLA-B*48 (M) | — | 15 407 | — | — | 15 407 |
| HLA-B*49 (T) | — | 30 234 | — | — | 30 234 |
| HLA-B*50 (T) | — | 21 137 | — | — | 21 137 |
| HLA-B*51 (T) | — | 126 774 | — | — | 126 774 |
| HLA-B*52 (T) | HLA-B*52:90 (M) | 37 355 | HLA-B*52:90 (M) | 1 (White) | 37 356 |
| HLA-B*53 (T) | — | 29 726 | — | — | 29 726 |
| HLA-B*54 (T) | — | 4116 | — | — | 4116 |
| HLA-B*55 (T) | HLA-B*55:91 (R) | 37 710 | HLA-B*55:91 (R) | 3 (2 Asian or Pacific Islander, 1 White) | 37 713 |
| HLA-B*56 (T) | HLA-B*56:68 (M) | 13 845 | — | — | 13 845 |
| HLA-B*57 (T) | — | 78 082 | — | — | 78 082 |
| HLA-B*58 (T) | HLA-B*58:112 (M) | 39 521 | HLA-B*58:112 (M) | 1 (multirace) | 39 522 |
| HLA-B*59 (T) | — | 646 | — | — | 646 |
| HLA-B*67 (M) | — | 698 | — | — | 698 |
| HLA-B*73 (M) | — | 1160 | — | — | 1160 |
| HLA-B*78 (T) | — | 1986 | — | — | 1986 |
| HLA-B*81 (M) | — | 3613 | — | — | 3613 |
| HLA-B*82 (T) | — | 494 | — | — | 494 |
| HLA-B*83 (T) | — | 4 | — | — | 4 |
| Total | 2 196 667 | 49 | 2 196 716 | ||
| Existing reference alleles (IMGT) . | Genomic sequence-based observations (cohort 1) . | ||||
|---|---|---|---|---|---|
| Allele family (leader) . | Minor allele(s) . | Major alleles . | Minor allele(s) . | Total . | |
| HLA-B (leader) . | Count . | HLA-B (leader) . | Count (broad race*) . | ||
| HLA-B*07 (M) | HLA-B*07:65 (T) | 251 053 | 251 055 | ||
| HLA-B*07:271 (T) | |||||
| HLA-B*07:371 (V) | HLA-B*07:371 (V) | 1 (White) | |||
| HLA-B*07:390 (T) | HLA-B*07:390† (T) | 1 (White) | |||
| HLA-B*08 (M) | — | 199 301 | HLA-B*08:207† (T) | 1 (White) | 199 302 |
| HLA-B*13 (T) | HLA-B*13:117 (M) | 54 456 | HLA-B*13:117 (M) | 1 (Asian or Pacific Islander) | 54 457 |
| HLA-B*14 (M) | — | 84 890 | — | — | 84 890 |
| HLA-B*15 (T) | HLA-B*15:68 (M) | 190 429 | HLA-B*15:68 (M) | 2 (Asian or Pacific Islander, multirace) | 190 431 |
| HLA-B*15:180 (M) | |||||
| HLA-B*18 (T) | — | 95 598 | HLA-B*18:01:01† (M) | 2 (White) | 95 600 |
| HLA-B*27 (T) | — | 78 897 | — | — | 78 897 |
| HLA-B*35 (T) | — | 235 193 | HLA-B*35:01:01† (M) | 33 (31 White, 2 multirace) | 235 226 |
| HLA-B*37 (T) | — | 29 684 | — | — | 29 684 |
| HLA-B*38 (M) | — | 45 774 | — | — | 45 774 |
| HLA-B*39 (M) | — | 69 503 | — | — | 69 504 |
| HLA-B*40 (T) | HLA-B*40:416 (M) | 142 805 | HLA-B*40:416 (M) | 2 (White, American Indian or Alaskan Native) | 142 807 |
| HLA-B*41 (T) | — | 17 724 | — | — | 17 724 |
| HLA-B*42 (M) | — | 11 772 | — | — | 11 772 |
| HLA-B*44 (T) | — | 215 355 | — | — | 215 355 |
| HLA-B*45 (T) | — | 17 870 | — | — | 17 870 |
| HLA-B*46 (T) | — | 9781 | — | — | 9781 |
| HLA-B*47 (T) | — | 4074 | — | — | 4074 |
| HLA-B*48 (M) | — | 15 407 | — | — | 15 407 |
| HLA-B*49 (T) | — | 30 234 | — | — | 30 234 |
| HLA-B*50 (T) | — | 21 137 | — | — | 21 137 |
| HLA-B*51 (T) | — | 126 774 | — | — | 126 774 |
| HLA-B*52 (T) | HLA-B*52:90 (M) | 37 355 | HLA-B*52:90 (M) | 1 (White) | 37 356 |
| HLA-B*53 (T) | — | 29 726 | — | — | 29 726 |
| HLA-B*54 (T) | — | 4116 | — | — | 4116 |
| HLA-B*55 (T) | HLA-B*55:91 (R) | 37 710 | HLA-B*55:91 (R) | 3 (2 Asian or Pacific Islander, 1 White) | 37 713 |
| HLA-B*56 (T) | HLA-B*56:68 (M) | 13 845 | — | — | 13 845 |
| HLA-B*57 (T) | — | 78 082 | — | — | 78 082 |
| HLA-B*58 (T) | HLA-B*58:112 (M) | 39 521 | HLA-B*58:112 (M) | 1 (multirace) | 39 522 |
| HLA-B*59 (T) | — | 646 | — | — | 646 |
| HLA-B*67 (M) | — | 698 | — | — | 698 |
| HLA-B*73 (M) | — | 1160 | — | — | 1160 |
| HLA-B*78 (T) | — | 1986 | — | — | 1986 |
| HLA-B*81 (M) | — | 3613 | — | — | 3613 |
| HLA-B*82 (T) | — | 494 | — | — | 494 |
| HLA-B*83 (T) | — | 4 | — | — | 4 |
| Total | 2 196 667 | 49 | 2 196 716 | ||
Reference HLA-B alleles and leader alleles were obtained from IPD-IMGT/HLA version 3.42.0.35 Each first-field HLA-B family is characterized by a major leader allele. A total of 12 minor alleles are found among 8 first-field families. Genomic sequence-based observations of cohort 1 confirmed eight of these 12 minor alleles and additionally detected evidence for another 3 HLA-B alleles with minor leader alleles at exon 1. Minor alleles represented 0.0022% of the leader alleles in cohort 1.
There are 5 possible broad race categorizations (Black or African American, Asian or Pacific Islander, White, Hispanic or Latin American, and American Indian or Alaskan Native) and 4 miscellaneous categories (multirace, unknown, other, and declined). Multirace applies to those who have more than one broad race listed. Additional details are listed in the Materials and Methods.
Four rare, minor alleles encoded novel polymorphisms outside of exons 2 through 4. Three of these alleles encoded minor leader alleles in families with no known prior minor leader alleles. These 4 observed sequences had novel polymorphisms outside of exons 2 through 4 (genomic positions 201-471; 716-992; 1566-1842; respectively) compared with reference sequences first described by IPD-IMGT/HLA version 3.42.0.1 The closest-matching allele was used as a placeholder. Note that the genomic position of P2 on the leader allele spans 10 through 12. The novel polymorphisms for HLA-B*07:390 are −18A>G; 15G>A; 2892T>C; and 2904G>C. HLA-B*08:207 has 11T>C. HLA-B*18:01:01 has −18A>G and 11C>T (GenBank accession MH173353 for the unique sequence). HLA-B*35:01:01 has 18A>G and 11C>T (GenBank accessions MG756798, MH973951, and MG769755 for unique sequences).