Skip to main content
. 2021 Oct 5;81(2):243–254. doi: 10.1136/annrheumdis-2021-221010

Figure 1.

Figure 1

GLK somatic and germline variants occur in PBMCs of SLE patients. (A) Schematic diagram of the screening design to identify GLK gene variants in patients with SLE by next-generation sequencing. (B) The variant frequency of GLK 3′-UTR (T635C) variant in 163 individuals without SLE (6 HCs and 157 members without SLE from individual families) and 101 patients with SLE (sporadic and familial) from Cohort #1 (left panel). The value 2.7% was mean plus 3SD (1.0% + 3 × 0.58%=2.74%) of 3′-UTR (T635C) variant frequencies in the group without SLE. The frequency of GLK 3′-UTR (T635C) variant in 87 HCs and 80 patients with SLE (all sporadic) from Cohort #2 (right panel). Bars denote means of variant frequency. ***P<0.0001 (two-tailed Student’s t-test). (C) Sanger-sequencing chromatograms for heterozygous variants at GLK (A410T), (K650R) and 3′-UTR (A644C). Arrows indicate the bases with distinct nucleotides. Y denotes mixed bases of C and T nucleotides; K denotes mixed bases of G and T nucleotides. HCs, healthy controls; PBMCs, peripheral blood mononuclear cells; SLE, systemic lupus erythematosus; UTR, untranslated region.