Table 4

GC haplotypes observed in AATD, COPD and controls

GC2–GC241 (10.3)10 (8.9)56 (12.9)
GC1S–GC1S110 (27.6)39 (25.9)145 (33.5)
GC1F–GC1F1 (0.2)00
GC2–GC1S142 (35.6)41 (36.6)150 (34.6)
GC2–GC1F5 (1.3)1 (0.8)0
GC1S–GC1F4 (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.