Single nucleotide polymorphisms associated with renal disease

Patent metadata

Field	Value
Publication number	US-9102983-B2
Application number	US-86421809-A
Country	US
Kind code	B2
Filing date	Jan 30, 2009
Priority date	Jan 30, 2008
Publication date	Aug 11, 2015
Grant date	Aug 11, 2015

Abstract

Methods for determining the genetic predisposition of a human subject to developing renal disease, such as focal segmental glomerulosclerosis (FSGS) or end-stage kidney disease are provided herein. These methods include methods for detecting renal disease, or determining the risk of developing renal disease in a human subject, such as a subject of African ancestry. The methods utilize the detection of one or more haplotype blocks comprising at least two tag single nucleotide polymorphisms (SNPs) in a non-coding region of a MYH9 gene or detecting the presence of at least one tag SNP in a non-coding region of a MYH9 gene. An array for detecting a genetic predisposition to renal disease using probes complementary to the tag SNPs in the non-coding region of the MYH9 gene are also disclosed.

First claim

The invention claimed is:

1. A method for detecting a genetic predisposition to focal segmental glomerulosclerosis (FSGS) in a human subject and administering an angiotensin-converting enzyme (ACE) inhibitor to the human subject, comprising:
obtaining a sample from the subject comprising DNA;
contacting the DNA with a primer or probe for at least one single nucleotide polymorphism (SNP) in a non-coding region of a MYH9 gene encoding non-muscle myosin heavy chain IIA comprising rs5750250;
genotyping the sample obtained from the subject for the at least one SNP comprising rs5750250;
detecting two copies of guanine (G) at rs5750250, as compared to a human subject with no G or a single copy of G at rs5750250, thereby determining that the subject has a genetic predisposition to FSGS; and
administering the ACE inhibitor to the human subject with the genetic predisposition to FSGS.

2. The method of claim 1 , wherein the human subject is infected with human immunodeficiency virus (HIV).

3. The method of claim 1 , wherein the subject is an African-American subject who resides in the United States and self-identifies as being of African origin.

4. The method of claim 1 , further comprising determining albumin content of a urine sample from the subject.

5. The method of claim 1 , further comprising determining a concentration of creatinine in a serum sample from the subject.

Assignees

• Winkler Cheryl
• Nelson George
• Kopp Jeffrey B
• Smith Michael W
• Johnson Randall
• Us Health

Inventors

• Winkler Cheryl
• Nelson George
• Kopp Jeffrey B
• Smith Michael W
• Johnson Randall

Classifications

• C12Q2600/172

  Haplotypes · CPC title

• C12Q1/6883 Primary

  for diseases caused by alterations of genetic material · CPC title

• C12Q2600/156

  Polymorphic or mutational markers · CPC title