Figure 2. Two common haplotypes that associate with age at onset of CFRD.

(A) Top: SLC26A9 variant haplotypes with MAF greater than 15% and MHF greater than 20%. Location of variants relative to SLC26A9 and luciferase constructs are shown above haplotypes (note: SLC26A9 is on [–] DNA strand, not drawn to scale). Cross indicates TGGGGCCTCGGGTATCTCA. Haplotype frequencies, P values, and β values are shown to the left of the respective haplotypes. rsIDs are shown for the CFRD-associated variants (8). Variants highlighted in blue indicate alleles composing the most common ancestral haplotype. Variants highlighted in red indicate alleles that differ from those in the common haplotype. Bottom: LD plot of variants with MAF greater than 15% created with Haploview. Black boxes indicate an r² value of 1 or complete LD, while white boxes indicate an r² of 0 or linkage equilibrium. Proposed LD blocks are outlined (triangles), defined by a recombination event between introns 5 and 8. (B) Cumulative incidence plot of proportion with CFRD relative to age among individuals with LR or HR haplotypes. LR/LR homozygotes (n = 46) versus HR/HR homozygotes (n = 36) are plotted (log-rank P = 6.5 × 10^–3).