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. 2020 Jan 9;11(1):e00114. doi: 10.14309/ctg.0000000000000114

Figure 1.

Figure 1.

(a) Sequence of REPIN1 region with the12 bp deletion marked in gray and (b) REPIN1 genotyping by agarose gel after RFLP for the human genotyping. Lane 1 marker (M, 100bp marker), lane 2 WT, homozygote for wild-type (WT, 3 fragments, 99bp, 143bp, 322bp), lane 3 het, heterozygote (het, 4 fragments, 99 bp, 143 bp, 230 bp, 322 bp), lane 4 homozygote for 12 bp deletion (Del, 2 fragments, 230 bp, 322 bp), and lane 5 neg (negative control). (c and d) The NAFLD activity score and fibrosis score in subjects with REPIN1 wildtype allele (WT, N = 53) and homozygous deletion (Del, N = 8) variant. (c) The NAFLD activity score and (d) fibrosis score are significantly reduced in subjects with REPIN1 Del variant compared with wildtype allele carrier. (e) Significantly reduced REPIN1 mRNA expression in liver biopsies in subjects with REPIN1 Del variant compared with wildtype allele carrier. Results are expressed as means ± SE. (f) Liver volume (cm3) correlation of all subjects with hepatic mRNA level of REPIN1 (N = 42). bp, base pair; NAFLD, nonalcoholic fatty liver disease; RNA, ribonucleic acid; RFLP, restriction fragment length polymorphism.