Does copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis?

Background: APOL1 risk variants (G1 and G2) are associated with increased susceptibility to focal segmental glomerulosclerosis (FSGS) in African population. However, the two risk mutations were not found in Chinese FSGS patients. In this study, we explored the association between the copy number variation (CNV) of APOL1 gene and FSGS. Methods: APOL1 copy number variations were detected by quantitative real-time PCR with TaqMan probes and compared between 133 FSGS patients and 123 controls. The association between CNV of APOL1 gene and clinical parameters was also investigated. Results: The distribution of APOL1 CNV did not show significant difference between FSGS patients and controls. The creatinine and proteinuria in the high copy number group (CN ≥ 3) were higher than the other two groups, but the difference was not significant (p > .05). The FSGS pathological types were different among the three groups. Conclusion: There was no significant difference in the distribution of APOL1 gene copy variants between FSGS patients and normal controls, and there was no significant correlation between the APOL1 gene CNV and the FSGS patients’ clinical manifestations. APOL1 CNVs may be not associated with susceptibility to FSGS.