Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

@inproceedings{Tzur2010MissenseMI,
  title={Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene},
  author={Shay Tzur and Saharon Rosset and Revital Shemer and Guennady Yudkovsky and Sara Selig and Ayele Tarekegn and Endashaw J. Bekele and Neil N Bradman and Walter G Wasser and Doron M Behar and Karl Skorecki},
  booktitle={Human Genetics},
  year={2010}
}
MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. The APOL1 gene product, apolipoprotein L-1, has been studied for its roles in trypanosomal lysis… CONTINUE READING
Highly Influential
This paper has highly influenced 19 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
Recent Discussions
This paper has been referenced on Twitter 9 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 182 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 35 references

Statistical Models in S

  • TJ Hastie, D Pregibon
  • 1992
Highly Influential
3 Excerpts

A composite of multiple signals distinguishes causal variants in regions of positive selection

  • Grossman, I Shylakhter, +9 authors PC Sabeti
  • Science
  • 2010

Patients with EpsteinFechtner syndromes owing to MYH 9 R 702 mutations develop progressive proteinuric renal disease

  • T Sekine, M Konno, +16 authors S Kunishima
  • Kidney Int
  • 2010

Sensitive and specific KRAS somatic mutation analysis on whole-genome amplified DNA from archival tissues

  • R van Eijk, M van Puijenbroek, +6 authors T van Wezel
  • J Mol Diagn
  • 2010
1 Excerpt

Similar Papers

Loading similar papers…