Table 1.
Patient Characteristics in CSSCD, MSH and Walk-PHaSST cohorts.
Table 2.
Patient Characteristics of the Duke and SITT cohorts.
Figure 1.
Plot of serum bilirubin among 90 sibling pairs in the CSSCD (A) and 200 pairs of unrelated individuals randomly selected from the CSSCD (B).
In each scatter plot, the x- and y-axes show levels of total bilirubin. The correlation coefficient in the 90 sibling pairs was 0.27, while the average correlation coefficient of bilirubin levels in the pairs of unrelated individuals was −0.002.
Figure 2.
Summary of the GWAS data from the CSSCD Cohort.
The Manhattan plot (A) displays the –log10(p value) of the associations tested in the CSSCD cohort using the additive model. Color bands represent chromosomes, and SNPs are ordered by their physical position within each chromosome. The large spike in chromosome 2 corresponds to the UGT1A1, UGT1A3, UGT1A8 and UGT1A10 regions. The QQ-plot (B) displays the observed (y-axis) versus expected (x-axis) –log10 (p-value). From the QQ plot, there is minimal to no inflation in the test statistic.
Table 3.
Single Nucleotide Polymorphisms Associated with Total Bilirubin Levels.
Figure 3.
LD Structure in the CSSCD Cohort.
LD plots for regions in genes UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 on chromosome 2 in the CSSCD subjects. The LD plot was generated using Haploview 4.2. Each diamond represents the D’ value between two SNPs. The LD color scheme is: white D’<1 and LOD<2, blue D’ = 1 and LOD<2; shades of pinkish-red D’<1 and LOD≥2 and bright red D’ = 1 and LOD≥2.
Table 4.
Single Nucleotide Polymorphisms Associated with Cholelithiasis.
Table 5.
Association Analysis with LDH, Reticulocyte Counts and Hemoglobin Concentration.