Table 2

GLK gene germline variants* resulting in codon or 3′-UTR change in patients with SLE of Cohort #1 and Cohort #2

Annotated SNPCohortPatient numberSLE ID#Allele frequency in SLEAllele frequency in controlAllele frequency in world
chr2:39 477 115Tc.3329A>C3′-UTR (A644C)rs191224999#11F52-011/172 (0.005814)1/136 (0.007353)0.000050
2/160 (0.012500)0
chr2:39 519 957Cc.1228G>Ap.Ala410Thrrs148167737#13S10,
2/172 (0.01163)00.000601
2/160 (0.012500)1‡/174 (0.005747)
chr2:39 499 448Tc.1949A>Gp.Lys650Argrs200566214#12F26-01 F26-021/172 (0.001581)00.000231
chr2:39 505 607Cc.1735G>Ap.Ala579ThrND#21B191/160 (0.006250)0ND
  • GLK coding, GLK variant coding that is a reverse sequence on chromosome 2.

  • Cohort #1, SLE, n=101 (24 patients with sporadic SLE and 77 patients with SLE from 62 families); non-SLE, n=163 (6 healthy controls and 157 family members without SLE from 62 families).

  • Cohort #2, SLE, n=80 (patients with sporadic SLE); healthy control, n=87 (non-familial healthy controls).

  • Allele frequencies were calculated using unrelated patients and controls; if from individual families, only one patient with SLE and one member without SLE from each family are included.

  • ‘F’ denotes family member in Cohort #1; ‘S’ denotes patient with sporadic SLE in Cohort #1; ‘B’ indicates patient with sporadic SLE in Cohort #2.

  • *Single nucleotide variants.

  • †One male family member without SLE control (F52-02) from Cohort #1 harboured this variant.

  • ‡One male non-familial healthy control from Cohort #2 harboured this variant.

  • Ref, DNA coding from the human genome hg19 reference; SLE, systemic lupus erythematosus; UTR, untranslated region.