NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.

Although none of the 12 SNPs reached genome-wide significance ( P = 1.17 × 10 −7 ) in this validation analysis, SNP rs13720 exhibited a borderline significant association with progression to jaundice stage (OR = 2.15, 95% CI = 1.61–2.87, P = 1.36 × 10 −7 , Table 2 ).

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Although the associations in liver, spleen, and EBV-transformed lymphocytes did not reach statistical significance, probably due to the small sample size, the patterns in these three tissues resembled those in whole blood and transformed fibroblasts (Supplementary Figure 4 ).

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