TABLE 1.
Participant characteristics stratified by SERPINA1 genotype
| Total | Genotype | ||||||
| MM | ZZ | SZ | MZ | SS | MS | ||
| Subjects | 458 164 (100) | 398 424 (87) | 140 (0.031) | 867 (0.19) | 16 983 (3.7) | 1013 (0.22) | 40 737 (8.9) |
| Unrelated individuals# | 449 991 | 391 334 | 138 | 851 | 16 707 | 993 | 39 968 |
| Age years | 58 (50–63) | 58 (50–63) | 56 (49–63) | 57 (50–63) | 58 (51–64) | 57 (50–63) | 58 (50–63) |
| Male | 209 694 (46) | 182 344 (46) | 73 (52) | 393 (45) | 7715 (45) | 469 (46) | 18 700 (46) |
| Height cm | 168.7±9.2 | 168.6±9.2 | 172.2±9.3 | 170.1±9.3 | 169.6±9.3 | 169.1±9.1 | 168.8±9.2 |
| Subjects with no height data | 1032 (0.23) | 898 (0.23) | 0 | 1 (0.12) | 36 (0.21) | 3 (0.30) | 94 (0.23) |
| BMI kg·m−2 | 27.4±4.8 | 27.4±4.8 | 26.7±4.7 | 27.0±4.6 | 27.3±4.7 | 27.3±4.6 | 27.4±4.8 |
| Subjects with no BMI data | 1522 (0.33) | 1321 (0.33) | 0 | 3 (0.35) | 50 (0.29) | 4 (0.39) | 144 (0.35) |
| Smoking status | 451 157 (98) | 392 313 (98) | 135 (96) | 856 (99) | 16 736 (99) | 996 (98) | 40 121 (98) |
| Current smokers¶ | 47 711 (11) | 41 735 (11) | 7 (5.2) | 83 (9.7) | 1605 (9.6) | 106 (11) | 4175 (10) |
| Pack-years | 25.5 (14.7–37.8) | 25.3 (14.7–38.0) | 10.3 (7.8–14.9) | 25.4 (16.2–35.0) | 24.6 (14.3–37.4) | 30.0 (17.5–39.0) | 25.2 (14.6–37.5) |
| Subjects with pack-years data¶ | 38 309 (80) | 33 512 (80) | 4 (57) | 70 (84) | 1298 (81) | 85 (80) | 3340 (80) |
| Past smokers¶ | 158 852 (35) | 138 053 (35) | 45 (33) | 313 (37) | 5915 (35) | 334 (34) | 14 192 (35) |
| Pack-years | 17.0 (9.0–29.5) | 17.0 (9.0–29.5) | 15.9 (8.0–17.8) | 16.3 (9.0–26.0) | 17.0 (8.8–30.0) | 18.0 (10.0–31.5) | 17.5 (9.0–29.7) |
| Subjects with pack-years data¶ | 103 195 (65) | 89 632 (65) | 27 (60) | 189 (60) | 3852 (65) | 221 (66) | 9274 (65) |
| Never-smokers¶ | 244 594 (54) | 212 525 (54) | 83 (61) | 460 (54) | 9216 (55) | 556 (56) | 21 754 (54) |
| Exposure to smoke or polluted air | 120 423 (26) | 104 642 (26) | 36 (26) | 223 (26) | 4505 (27) | 256 (26) | 10 761 (26) |
| AATD diagnosis | 61 (0.013) | 4 (0.0010) | 9 (6.4) | 9 (1.0) | 36 (0.21) | 0 | 3 (0.0074) |
Data are presented as n (%), n, median (interquartile range) or mean±sd. BMI: body mass index; AATD: alpha-1 antitrypsin deficiency. #: numbers of individuals were calculated by removing related individuals with kinship coefficients ≥0.044, which were used in sensitivity analyses; ¶: percentage was calculated among people with information available.