A: LocusZoom plot of association results and LD boundaries around HKDC1. The top panel reflects the meta-analysis results of the four GWAS cohorts. Each of the four middle panels contains the population-specific (AC, EU, HI, TH) association results and estimates of LD (D′) from the SNP with the strongest
evidence for association in the meta-analysis. The LD estimates are color coded as a heat map from purple (D′ ≥0.3 to >0.4)
to red (D′ ≥0.9 to >1.0), whereas gray indicates D′ <0.3. These coincide with the recombination hotspots indicated by the
blue lines (recombination rate in genetic distance between markers [cM]/physical distance [Mb] from HapMap (12). The bottom panel shows the genes and their directions in this region of chromosome 10. B: HKDC1 mRNA in human tissues as determined by RT-PCR: (1) adipose tissue, (2) bladder, (3) brain, (4) cervix, (5) colon, (6) esophagus,
(7) heart, (8) kidney, (9) liver, (10) lung, (11) ovary, (12) placenta, (13) prostate, (14) skeletal muscle, (15) small intestine,
(16) spleen, (17) testes, (18) thymus, (19) thyroid, and (20) trachea. C: Aligned genes, SNPs, active enhancer marks, OC regions, and gene expression profiles of the 2HPG-associated HKDC1 region on chromosome 10. SNPs upstream and within HKDC1 align with peaks representing regions enriched for active histone marks and OC regions in cell types representing 16 different
tissues. HKDC1 is highly expressed in colon, lung, liver, and cervical carcinomas.