Fig. 1

Linkage disequilibrium heatmap (left) and pairwise disequilibrium plot (right). D, Linkage disequilibrium coefficient; D′, Lewontin’s standardised disequilibrium coefficient; r, squared correlation coefficient; X^2, chi-square; n (sample size) = 79, 1 participant had a deletion at mutation site 590G > A. Marker refers to the Single Nucleotide polymorphism (SNPs): 590GA refers to 590 G > A, 341TC refers to 341 T > C, 282CT refers to 282C > T and 803AG refers to 803A > G. Only genetic variants with a frequency higher than 5% were used to evaluate LD. On the left is the LD heatmap; the red squares represent LD, and the yellow square represents no LD. On the right is the pairwise disequilibrium plot. The plots (coloured lines which are numbered) represent the different markers (SNPs), marker 1 being 282C > T, marker 2 being 341 T > C, marker 3 being 590 G > A and marker 4 being 803A > G. The plots that are close together are in moderate to strong LD. For example, 341 T > C (2) and 590 G > A (3) are in strong complete LD and negatively correlated, while 282C > T (1) and 341 T > C (2) are in strong LD and negatively correlated. On the other hand, 803A > G is either in weak LD (with 341 T > C and 282C > T) or no LD (with 590 G > A) as specified