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Abstract: FR-PO1094

APOL1 Risk Variants in Brazilians with Lupus Nephritis

Session Information

Category: Glomerular Diseases

  • 1203 Glomerular Diseases: Clinical, Outcomes, and Trials

Authors

  • Vajgel, Gisele, Hospital Das Clinicas, Recife, PE, Brazil
  • Lima, Suelen Cristina de, LIKA/UFPE, Recife, PE, Brazil
  • Hicks, Pamela J., Wake Forest Baptist Health, Winston Salem, North Carolina, United States
  • Costa, Denise Maria do Nascimento, Hospital Das Clinicas, Recife, PE, Brazil
  • Oliveira, Camila Barbosa lyra, Hospital Das Clinicas, Recife, PE, Brazil
  • Valente, Lucila Maria, Hospital Das Clinicas, Recife, PE, Brazil
  • Mastroianni-kirsztajn, Gianna, UNIFESP, Sao Paulo, Sao Paulo, Brazil
  • Freedman, Barry I., Wake Forest Baptist Health, Winston Salem, North Carolina, United States
  • Sandrin-Garcia, Paula S., LIKA/UFPE, Recife, PE, Brazil
Background

APOL1 2 risk variants have been associated to collapsing glomerulopathy and end stage renal disease (ESRD) in lupus nephritis (LN) patients. The prevalence of APOL1 G1 and G2 variants in Brazilians is unknown. The present study aimed to analyze the frequency of APOL1 risk variants in a cohort of LN patients in 3 GN clinics in Brazil.

Methods

APOL1 G1 and G2 variants were genotyped in 173 patients who fulfilled SLEDAI criteria for lupus and LN class III, IV or V, randomly chosen in three outpatient clinics. DNA extraction from whole blood was performed using the PureGene system. Two single- nucleotide polymorphisms (SNPs) in the APOL1 G1 nephropathy risk variant (rs73885319; rs60910145) and an indel for the G2 risk variant (rs71785313) were genotyped using Taqman assays on the ViiA 7 platfom (Applied Biosystems for Life Tech). Clinical and lab data were analyzed using R studio.

Results

Patients data are summarized in table1. G1/G1 genotype was found in 3 non-white women (1.7%). They were 21, 29 and 51 years and had LN for 12, 120 and 47 months, respectively. All of them had LN class IV and received treatment with CF, MMF and steroids. Their outcomes in the last follow-up were ESRD in the youngest and CKD stage 4 in the others.

Conclusion

APOL1 risk variants are rare in Brazilians LN patients, however all patients who expressed 2 risk variants had worse outcomes (ESRD or CKD stage 4).

Table 1: Clinical characteristics and outcomes of 173 patients.
Mean age (SD), years34.5(±11)
Female sex90%
Non-white77%
Mean BMI (SD)25(±5)
Positive ANA97%
Mean SLICC (SD)6.8(±2)
Median LN age(25th-75th), mo48(18-89)
LN Class III(+/-V)26%
LN Class IV(+/-V)54.3%
LN Class V19.7%
Induction treatment: CF69.5%
Maintenance treatment: MMF86%
Partial or Complete response (last F/U)66%
CKD, eGFR<60mL/min (last F/U)22%
ESRD (last F/U)8%

CF: Cyclophosphamide; MMF: Micophenolate Mophetil; F/U: follow-up.