MBL2 allele and haplotype frequencies in allogeneic SCT recipients and donors
| Allele/haplotype . | No. of recipients (%) n = 93 . | No. of donors (%) n = 90 . |
|---|---|---|
| Coding genotype | ||
| A/A | 55 (59.1) | 52 (57.8) |
| A/D | 12 (12.9) | 12 (13.3) |
| A/B | 21 (22.6) | 25 (27.7) |
| A/C | 0 | 0 |
| TotalA/O | 33 (35.5) | 37 (41.1) |
| B/C | 1 (1.1) | 0 |
| B/D | 2 (2.2) | 0 |
| D/D | 2 (2.2) | 1 (1.1) |
| Total O/O | 5 (5.5) | 1 (1.1) |
| Total with coding mutation (A/O orO/O) | 38 (40.9) | 38 (42.2) |
| Promoter genotypes | ||
| − 550 alleles (H/L) | ||
| HH | 13 (14.0) | 13 (14.1) |
| HL | 52 (55.9) | 49 (54.4) |
| LL | 28 (31.1) | 28 (31.1) |
| − 221 alleles (X/Y) | ||
| XX | 4 (4.3) | 1 (1.1) |
| XY | 30 (32.3) | 34 (37.8) |
| YY | 59 (63.4) | 55 (61.1) |
| Promoter haplotypes | ||
| HYA/A | 40 (43.0) | 40 (44.4) |
| HYA/O | 16 (17.2) | 14 (15.6) |
| TotalHYA | 56 (60.2) | 54 (60.0) |
| LYA/A | 28 (30.1) | 30 (33.3) |
| LYA/O | 11 (11.8) | 12 (13.3) |
| Total LYA | 39 (41.9) | 42 (46.7) |
| LXA/A | 28 (30.1) | 24 (26.7) |
| LXA/O | 6 (6.5) | 11 (12.2) |
| Total LXA | 34 (36.6) | 35 (38.9) |
| Sufficient (A/A, LYA/O, andHYA/O) | 78 (83.9) | 77 (85.6) |
| Insufficient (O/O, LXA/O, and LXA/LXA) | 15 (16.1) | 13 (14.4) |
| Allele/haplotype . | No. of recipients (%) n = 93 . | No. of donors (%) n = 90 . |
|---|---|---|
| Coding genotype | ||
| A/A | 55 (59.1) | 52 (57.8) |
| A/D | 12 (12.9) | 12 (13.3) |
| A/B | 21 (22.6) | 25 (27.7) |
| A/C | 0 | 0 |
| TotalA/O | 33 (35.5) | 37 (41.1) |
| B/C | 1 (1.1) | 0 |
| B/D | 2 (2.2) | 0 |
| D/D | 2 (2.2) | 1 (1.1) |
| Total O/O | 5 (5.5) | 1 (1.1) |
| Total with coding mutation (A/O orO/O) | 38 (40.9) | 38 (42.2) |
| Promoter genotypes | ||
| − 550 alleles (H/L) | ||
| HH | 13 (14.0) | 13 (14.1) |
| HL | 52 (55.9) | 49 (54.4) |
| LL | 28 (31.1) | 28 (31.1) |
| − 221 alleles (X/Y) | ||
| XX | 4 (4.3) | 1 (1.1) |
| XY | 30 (32.3) | 34 (37.8) |
| YY | 59 (63.4) | 55 (61.1) |
| Promoter haplotypes | ||
| HYA/A | 40 (43.0) | 40 (44.4) |
| HYA/O | 16 (17.2) | 14 (15.6) |
| TotalHYA | 56 (60.2) | 54 (60.0) |
| LYA/A | 28 (30.1) | 30 (33.3) |
| LYA/O | 11 (11.8) | 12 (13.3) |
| Total LYA | 39 (41.9) | 42 (46.7) |
| LXA/A | 28 (30.1) | 24 (26.7) |
| LXA/O | 6 (6.5) | 11 (12.2) |
| Total LXA | 34 (36.6) | 35 (38.9) |
| Sufficient (A/A, LYA/O, andHYA/O) | 78 (83.9) | 77 (85.6) |
| Insufficient (O/O, LXA/O, and LXA/LXA) | 15 (16.1) | 13 (14.4) |
MBL2 gene allele, genotype, and haplotype frequencies are shown as numbers and percentages of recipients and donors carrying each variant. For coding region alleles, “A” refers to a wild-type region, “D” to the codon 52Cys mutation, “B” to the 54Asp mutation, and “C” to the 57Glu mutation. “O” refers to the presence of any of theMBL2 coding mutations. “A/O” is a coding mutation heterozygote and “O/O” a coding mutation homozygote or compound heterozygote. “H” and “L” refer to alleles at the − 550 MBL2promoter polymorphism and “X” and “Y” to the − 221 alleles. For example, “HYA/O” refers to the − 550 Hallele, the − 221 Y allele, and a normal coding region all lying on the same chromosome (“HYA”) and a coding mutation on the other chromosome (“O”).MBL2-“insufficient” genotypes denote those shown in previous studies to be associated with very low levels of circulating MBL.