Table 3.
Genotype and allele frequencies of biomarkers in hemophilia patients and the reference population
| ACAN VNTR | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genotype frequencies | |||||||||||||||||
| 50 patients (n) | 27,26 | 26,26 | 26,25 | 27,27 | 27,25 | 26,24 | 25,25 | 27,20 | 29,19 | 28,27 | 27,24 | 26,23 | 25,20 | 24,19 | 24,20 | 22,22 | 27,22 |
| 0.26 (13) | 0.16 (8) | 0.01 (5) | 0.1 (5) | 0.06 (3) | 0.06 (3) | 0.06 (3) | 0.04 (2) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0 | |
| 62 RP (n) | 27,26 | 26,26 | 26,25 | 27,27 | 27,24 | 26,24 | 25,25 | 29,27 | 27,25 | 26,17 | 29,26 | 29,25 | 29,24 | 27,22 | 27,21 | 26,21 | 26,20 |
| 0.23 (14) | 0.23 (14) | 0.15 (9) | 0.05 (3) | 0.05 (3) | 0.05 (3) | 0.05 (3) | 0.03 (2) | 0.03 (2) | 0.03 (2) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | 0.02 (1) | |
| Allele frequencies | |||||||||||||||||
| 50 patients (2n) | 26 | 27 | 25 | 24 | 20 | 22 | 19 | 29 | 28 | 23 | 21 | 17 | |||||
| 0.38 (38) | 0.3 (30) | 0.15 (15) | 0.06 (6) | 0.04 (4) | 0.02 (2) | 0.02 (2) | 0.01 (1) | 0.01 (1) | 0.02 (1) | 0 | 0 | ||||||
| 62 RP (2n) | 26 | 27 | 25 | 24 | 29 | 21 | 17 | 22 | 20 | 28 | 23 | 19 | |||||
| 0.48 (59) | 0.23 (29) | 0.15 (18) | 0.06 (7) | 0.04 (5) | 0.02 (2) | 0.02 (2) | 0.01 (1) | 0.01 (1) | 0 | 0 | 0 | ||||||
| IL1RN*2 VNTR | ||||||
|---|---|---|---|---|---|---|
| Genotype frequencies | ||||||
| 50 patients (n) | 4,4 | 4,2 | 5,2 | 3,2 | 2,2 | 4,3 |
| 0.48 (23) | 0.33 (16) | 0.08 (4) | 0.06 (3) | 0.06 (3) | 0,02 (1) | |
| 58 RP (n) | 4,2 | 4,4 | 2,2 | 4,3 | 5,4 | 3,2 |
| 0.41 (24) | 0.34 (20) | 0.14 (8) | 0.05 (3) | 0.03 (2) | 0.02 (1) | |
| Allele frequencies | ||||||
| 50 patients (2n) | 4 | 2 | 5 | 3 | ||
| 0.63 (63) | 0.29 (29) | 0.04 (4) | 0.04 (4) | |||
| 58 RP (2n) | 4 | 2 | 3 | 5 | ||
| 0.59 (69) | 0.35 (41) | 0.03 (4) | 0.02 (2) | |||
| Polymorphism (n) | Genotype frequencies in patients, n (%) | ||
|---|---|---|---|
| Homozygous (normal) | Heterozygous | Homozygous (variant) | |
| FV:g.1691G>A (48) | 48 (100) | 0 | 0 |
| FII:g.20210G>A (50) | 49 (98) | 1 (2) | 0 |
| MTHFR:g.677C>T (50) | 12 (24) | 30 (60) | 8 (16) |
| MTHFR:g.1298A>C (50) | 31 (62) | 19 (38) | 0 |
| TNFα:c.‐308G>A (50) | 38 (76) | 12 (24) | 0 |
| TNFα:c.‐238G>A (50) | 47 (94) | 3 (6) | 0 |
Genotypes and alleles are arranged according to their frequencies in descending order. Bold numbers indicate genotypes and alleles.
Abbreviations: RP, reference population from northern, central, and southern Mexico. n = genotype count, 2n = allele count.