AATD | COPD | Control | |
GC2–GC2 | 41 (10.3) | 10 (8.9) | 56 (12.9) |
GC1S–GC1S | 110 (27.6) | 39 (25.9) | 145 (33.5) |
GC1F–GC1F | 1 (0.2) | 0 | 0 |
GC2–GC1S | 142 (35.6) | 41 (36.6) | 150 (34.6) |
GC2–GC1F | 5 (1.3) | 1 (0.8) | 0 |
GC1S–GC1F | 4 (1.0) | 2 (1.6) | 0 |
Haplotype frequencies are shown as the raw value with the percentage in parentheses. Note that protein structure Glu/Lys would result from the haplotype rs7041G and rs4588A; only the recognised haplotypes are listed here, thus percentages do not total 100%. Where the genotype at either rs7041 or rs4588 was undetermined no haplotype has been assigned, and the individual was not included in the percentage analyses.
AATD, α1-antitrypsin deficiency; COPD, chronic obstructive pulmonary disease.