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<p>Non-communicable diseases, such as chronic kidney disease (CKD), are becoming increasingly prevalent worldwide. Genetic factors, including apolipoprotein L1 (<i>APOL1</i>) risk variants (G1 and G2), have been identified as modifiers for the development and progression of CKD, particularly predisposing individuals of African descent to kidney disease. Identifying these risk variants is therefore crucial for enabling early preventative measures and effective disease monitoring. However, current clinical methods for <i>APOL1</i> genotyping are costly and require advanced technical expertise and equipment, which are often unavailable in low-income countries. To address this gap, this study developed and validated a simple, cost-effective multiplex allele-specific polymerase chain reaction assay for detecting <i>APOL1</i> risk variants. The assay demonstrated a 96% concordance with Sanger sequencing, confirming its reliability and diagnostic potential as a practical alternative for <i>APOL1</i> genotyping in low-resource settings.</p>

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A multiplex allele-specific polymerase chain reaction assay for rapid and affordable detection of APOL1 risk variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月3日

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  • Oyindamola Christiana Adebayo,
  • Inge Bongaers,
  • Elena Levtchenko,
  • Lambertus van den Heuvel,
  • Veerle Labarque

摘要

Non-communicable diseases, such as chronic kidney disease (CKD), are becoming increasingly prevalent worldwide. Genetic factors, including apolipoprotein L1 (APOL1) risk variants (G1 and G2), have been identified as modifiers for the development and progression of CKD, particularly predisposing individuals of African descent to kidney disease. Identifying these risk variants is therefore crucial for enabling early preventative measures and effective disease monitoring. However, current clinical methods for APOL1 genotyping are costly and require advanced technical expertise and equipment, which are often unavailable in low-income countries. To address this gap, this study developed and validated a simple, cost-effective multiplex allele-specific polymerase chain reaction assay for detecting APOL1 risk variants. The assay demonstrated a 96% concordance with Sanger sequencing, confirming its reliability and diagnostic potential as a practical alternative for APOL1 genotyping in low-resource settings.