Fig. S2A
rs7305115
rs1843809
rs1386488
AUG
rs4570625
rs2129575
rs10748285
rs2171363
rs1386495
rs1386494
rs6582072
rs9325202
rs4760815
rs1007023
rs1487275
rs4290270
rs1386486
TGA
rs1473473
rs6582078
rs1023990
rs1352251
B.
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rs13252252
rs1872724
Fig. S2B
44
45
Fig. S2
A.
D’ plot for the 22 SNPs listed in Table 1 (main text) based upon genotyping data from 36 Caucasian
individuals in our collection. The plot was generated using Haploview (version 3.3; LD plot>Analysis>Solid Spine of LD,
where the LD spine was extended if D’ > 0.7). Red boxes indicate high estimated linkage disequilibrium (D’) between pairs
of SNPs. Blue, pink and white boxes indicate lower estimated linkage disequilibrium (bright red: D’ = 1, LOD ≥ 2; blue:
D’ = 1, LOD< 2; pink: D’ <1, LOD≥2; white: D’ < 1, LOD < 2). Haplotype blocks demarcate segments of high linkage
disequilibrium. Number within each square = D’ x 100.
B.
Estimated haplotypes and population frequencies for each haplotype block. Multiblock haplotypes are
indicated by the lines between the blocks, with frequencies corresponding to the thickness of the lines.
46
Observed
frequencies of haplotypes within each block are listed in grey type. The numbers in black type are Hendrick multiallelic
D’s, which estimate linkage disequilibrium between blocks by treating each block as an individual “allele.”
47