The United States of America, As Represented by the Secretary, Department of Health and Human Services

Michael W Smith

Michael C Dean

George E Nelson

Stephen James O'Brien

Jeffrey B Kopp

Cheryl Winkler

Randall Johnson

Mary Carrington

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.

Single nucleotide polymorphisms associated with renal disease

The present invention relates to a CCR2 deletion mutant, designated &ldquo;CCR2-64I.&rdquo; CCR2 is a C&mdash;C chemokine receptor and has been implicated as a co-receptor for HIV-1. It has been discovered that the presence of the CCR2-64I allele correlates with a postponement of AIDS outcomes, and that infected individuals who have the CCR2-64I allele are at a reduced risk for progression from HIV-1 infection to the development of clinical AIDS and death. Isolated nucleic acid molecule encoding CCR2-64I and the establishment of cell lines that express CCR2-64I provides valuable tools for continuing research on HIV infection. Diagnostic methods for analysis of the allelic frequency of CCR2 wild-type and 64I genes are provided. In addition, antibodies which bind to CCR2-64I, CCR2-64I variants, and CCR2 binding agents represent potential anti-HIV agents.

Delayed progression to aids by a missense allele of the CCR2 gene

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Jefferson, MD, United States of America

Michael W Smith