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Methods and kits for determining predisposition to develop kidney diseases

a technology of kidney disease and kit, which is applied in the direction of material testing goods, sugar derivatives, biochemistry equipment and processes, etc., can solve the problem that americans have a higher risk of cardiovascular disease mortality than african-americans

Inactive Publication Date: 2012-01-05
RAPPAPORT FAMILY INSTITUTE FOR RESEACH IN THE MEDICAL SCIENCES +2
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  • Abstract
  • Description
  • Claims
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Benefits of technology

[0031]Unless otherwise defined, all technical and / or scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which the invention pertains. Although methods and materials similar or equivalent to those described herein can be used in the practice or testing of embodiments of the invention, exemplary methods and / or materials are described below. In case of conflict, the patent specification, including definitions, will control. In addition, the materials, methods, and examples are illustrative only and are not intended to be necessarily limiting.

Problems solved by technology

Correspondingly, African-Americans also have a higher risk of mortality from cardiovascular disease than Americans of European ancestry, including death, non-fatal myocardial infarction, and stroke.
However, despite intensive efforts including re-sequencing of the MYH9 gene no suggested functional mutation has been identified (Nelson et al.

Method used

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  • Methods and kits for determining predisposition to develop kidney diseases
  • Methods and kits for determining predisposition to develop kidney diseases
  • Methods and kits for determining predisposition to develop kidney diseases

Examples

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example 1

Search for Sequence Variants Associated with ESKD

[0192]In order to detect functional mutations which are significantly more associated with ESKD than all previously reported SNPs in MYH9, the present inventors have re-examined the MALD interval surrounding MYH9, and detected novel missense mutations with predicted functional effects in the neighboring loci such as the APOL1 gene.

[0193]Identification of candidate non-synonymous SNPs related to ESKD—To search for variants possibly associated with ESKD, the present inventors analyzed 119 whole genome sequences recently released by the 1000 Genomes Project [world wide web (dot) 1000 genomes (dot) org] and examined in these genomes a 1.55 Mbp interval surrounding MYH9, spanning nucleotide positions 34,000,000 to 35,550,000 (NCBI36 assembly). Of the 119 whole genome sequences, 60 are of European origin (HapMap CEU cohort), and 59 are of West-African origin (HapMap YRI cohort) yielding a total of 7,479 SNPs in the 1.55 Mbp chromosome 22 in...

example 2

Distribution and Frequencies of the APOL1 Risk Allele in African Populations

[0206]HIV-associated nephropathy (HIVAN) has been considered as the most prominent non-diabetic form of kidney disease within what has been termed the MYH9-associated nephropathies (Kopp et al. 2008). Behar et al. 2006, reported absence of HIVAN in HIV infected Ethiopian.

[0207]The APOL1 S342G missense mutation is absent in certain African populations—To test whether genomic factors are associated with the absence of HIVAN in Ethiopian population, the present inventors have examined the allele frequencies of the APOL1 missense mutations, as well as the leading MYH9 risk variants in 676 individuals from 12 African populations, including 304 Ethiopians and the results are presented in Table 3, hereinbelow.

TABLE 3Distribution of the rs73885319 (S342G) riskallele among various African populationsrs73885319Samplerisk alleleCountryPopulationSizeLatitudeLongitudefrequencyGhanaBulsa2210.7−1.311%GhanaAsante355.8−2.841...

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Abstract

Provided are methods and kits for determining predisposition of a subject to develop a kidney disease, by identifying in a sample of the subject at least one APOL1 polypeptide variant which is characterized by a higher trypanolytic activity on Trypanosoma brucei rhodesiense as compared to the trypanolytic activity of wild type APOL1 polypeptide as set forth in SEQ ID NO:1 on the Trypanosoma brucei rhodesiense under identical assay conditions; or at least one APOL1 nucleotide mutation in the APLO1 genomic sequence set forth in SEQ ID NO:3, wherein the at least one nucleotide mutation or polypeptide variant being in linkage disequlibrium (LD) with the S342G mutation in the APOL1 polypeptide set forth in SEQ ID NO:1, wherein presence of the APOL1 polypeptide variant indicates increased predisposition of the subject to develop the kidney disease.

Description

RELATED APPLICATION[0001]This application claims the benefit of priority under 35 USC 119(e) of U.S. Provisional Patent Application No. 61 / 351,960 filed Jun. 7, 2010, the contents of which are incorporated herein by reference in their entirety.FIELD AND BACKGROUND OF THE INVENTION[0002]The present invention, in some embodiments thereof, relates to methods and kits for determining predisposition to develop kidney diseases, and, more particularly, but not exclusively, to methods of designing life style change and treatment regimens for a subject predisposed to develop a kidney disease.[0003]Chronic Kidney Disease (CKD) is a powerful independent risk factor for cardiovascular disease and death at all stages. Most patients with CKD will succumb to cardiovascular complications rather than reach end-stage kidney disease (ESKD). Recent reports estimate that as many as 600 million people worldwide have CKD, and hence are at greatly increased risk of cardiovascular disease including hyperten...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68G01N33/566C07H21/00C07K16/18
CPCC12Q1/6883C12Q1/703C12Q2600/172C12Q2600/106C12Q2600/156G01N33/6893G01N2333/775G01N2800/50
Inventor SKORECKI, KARLTZUR, SHAYROSSET, SAHARONWASSER, WALTER GABRIELBEHAR, DORON M.SHEMER, REVITAL
Owner RAPPAPORT FAMILY INSTITUTE FOR RESEACH IN THE MEDICAL SCIENCES
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