摘要 |
Disclosed are methods for detecting a genetic predisposition to focal segmental glomerulosclerosis (FSGS) or hypertensive end-stage kidney disease (ESKD) or both in a human subject. The methods include detecting the presence of at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C- terminal exon of an APOL1 gene. Disclosed methods also include detecting resistance of a subject to a disease associated with Trypanosoma infection and method of treating a subject infected with T. brucei (such as T. brucei brucei, T h. rhodesiense, or T h. gambiense) by administering a therapeutically effective amount of an APOL1 protein including a S342G substitution, an I384M substitution, and/or a deletion of N388 and Y389 to the subject. |
申请人 |
BETH ISRAEL DEACONESS MEDICAL CENTER;GENOVESE, GIULIO;FRIEDMAN, DAVID, J.;POLLAK, MARTIN, R. |
发明人 |
GENOVESE, GIULIO;FRIEDMAN, DAVID, J.;POLLAK, MARTIN, R. |