Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

نویسندگان

  • Giulio Genovese
  • David J Friedman
  • Michael D Ross
  • Laurence Lecordier
  • Pierrick Uzureau
  • Barry I Freedman
  • Donald W Bowden
  • Carl D Langefeld
  • Taras K Oleksyk
  • Andrea L Uscinski Knob
  • Andrea J Bernhardy
  • Pamela J Hicks
  • George W Nelson
  • Benoit Vanhollebeke
  • Cheryl A Winkler
  • Jeffrey B Kopp
  • Etienne Pays
  • Martin R Pollak
چکیده

African Americans have higher rates of kidney disease than European Americans. Here, we show that, in African Americans, focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) are associated with two independent sequence variants in the APOL1 gene on chromosome 22 {FSGS odds ratio = 10.5 [95% confidence interval (CI) 6.0 to 18.4]; H-ESKD odds ratio = 7.3 (95% CI 5.6 to 9.5)}. The two APOL1 variants are common in African chromosomes but absent from European chromosomes, and both reside within haplotypes that harbor signatures of positive selection. ApoL1 (apolipoprotein L-1) is a serum factor that lyses trypanosomes. In vitro assays revealed that only the kidney disease-associated ApoL1 variants lysed Trypanosoma brucei rhodesiense. We speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans.

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عنوان ژورنال:
  • Science

دوره 329 5993  شماره 

صفحات  -

تاریخ انتشار 2010