Apol 1 genetic variants in black South Africans with systemic lupus erythematosus
Date
2016
Authors
Van Hougenhouck-Tulleken, Wesley
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Abstract
1.1 Aim
To assess whether Apolipoprotein L-I (APOL1) G1 and G2 genotypes are associated with renal disease or Systemic Lupus Erythematosus (SLE) in a cohort of Black South African patients with SLE.
1.2 Methods
One hundred and seventy eight unrelated Black South African patients with SLE were enrolled into the study. All patients fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) 2012 criteria. The patients were recruited from the Chris Hani Baragwanath Academic Hospital Rheumatology clinic. One hundred and eight Black South African individuals with no known renal or connective tissue disease were used as controls. APOL1 G1 and G2 alleles were discerned using in-house restriction fragment length polymorphism analysis and fluorescently labelled primer PCR fragment length determination, respectively.
1.3 Results
APOL1 was successfully genotyped for G0, G1 and G2 in 165 (92.6%) of the samples obtained. The APOL1 genotypes G1 and G2 were associated with SLE (OR 7.42 (2.11 - 26.06), P = 4.09 x 10-4), Lupus nephritis (LN) (5.83 (1.41 – 24.18), P = 1.30 x 10-2) and chronic kidney disease (CKD) (8.38 (2.67 – 30.95), P = 2.97 x 10-4). However, stage 3 renal disease (defined as an estimated glomerular filtration rate (eGFR) < 60ml/min/1.73m2), showed the strongest association (OR 19.44 (3.71 – 101.91), P = 6.88 x 10-4).
1.4 Conclusion
The APOL1 alleles G1 and G2 show an associated with SLE, LN and CKD. However, the greatest association seen was with stage 3 renal disease. This suggests that the APOL1 alleles are risk factors for SLE and LN, and are strongly associated with progression to CKD in SLE.
Description
A research report submitted to the University of the Witwatersrand,
Johannesburg in part fulfillment for the requirements of the degree of Master of
Medicine (Internal Medicine