Figure 3
Linkage disequilibrium (LD) plot across the SERPINA1 gene. Patients. Controls. The box at the top indicates the SERPINA1 gene with the 3 investigated SNP's (1 = p.E342K, 2 = p.E264V and 3 = c.-1973T >C). The LD plot is based on the measurement of R2 (values × 0.01). Each diamond indicates the pair wise magnitude of LD. (LD: linkage disequilibrium is the non-random association of alleles at two or more loci. LD describes a situation in which some combinations of alleles or genetic markers occur more or less frequently in a population than would be expected from a random formation of haplotypes from alleles based on their frequencies.)