Methods of analysis of polymorphisms and uses thereof

a polymorphism and polymorphism technology, applied in the field of methods of disease assessment, can solve the problem of not having such methods for combining the effects of multiple genetic factors with non-genetic factors, and achieve the effect of reducing the risk of developing a diseas

Inactive Publication Date: 2011-07-28
SYNERGENZ BIOSCIENCE LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

This approach provides a predictive assessment of disease risk, allowing for personalized risk evaluation and potential interventions by balancing protective and susceptibility polymorphisms, thereby aiding in early detection and prevention strategies.

Problems solved by technology

Although combining non-genetic risk factors to determine a risk level of outcome has been in applied to coronary artery disease, (by combining individual factors such as blood pressure, gender, fasting cholesterol, and smoking status), there are no such methods in combining the effects of multiple genetic factors with non-genetic factors.

Method used

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  • Methods of analysis of polymorphisms and uses thereof
  • Methods of analysis of polymorphisms and uses thereof
  • Methods of analysis of polymorphisms and uses thereof

Examples

Experimental program
Comparison scheme
Effect test

example 1

Case Association Study—COPD Methods

Subject Recruitment

[0119]Subjects of European descent who had smoked a minimum of fifteen pack years and diagnosed by a physician with chronic obstructive pulmonary disease (COPD) were recruited. Subjects met the following criteria: were over 50 years old and had developed symptoms of breathlessness after 40 years of age, had a Forced expiratory volume in one second (FEV1) as a percentage of predicted <70% and a FEV1 / FVC ratio (Forced expiratory volume in one second / Forced vital capacity) of <79% (measured using American Thoracic Society criteria). Two hundred and ninety-four subjects were recruited, of these 58% were male, the mean FEV1 / FVC (±95% confidence limits) was 51% (49-53), mean FEV1 as a percentage of predicted was 43 (41-45). Mean age, cigarettes per day and pack year history was 65 yrs (64-66), 24 cigarettes / day (22-25) and 50 pack years (41-55) respectively. Two hundred and seventeen European subjects who had smoked a minimum of twenty...

example 2

I. Example 2

Case Association Study—OCOPD Methods

Subject Recruitment

[0243]Subjects of European decent who had been exposed to chronic smoking (minimum 15 pack years) and aero-pollutants in the work place (noxious dusts or fumes) were identified from respiratory clinics. After spirometric testing those with occupational chronic obstructive pulmonary disease (OCOPD) with forced expiratory volume in one second (FEV1) as a percentage of predicted <70% and a FEV1 / FVC ratio (Forced expiratory volume in one second / Forced vital capacity) of <79% (measured using American Thoracic Society criteria) were recruited. One hundred and thirty-nine subjects were recruited, of these 70% were male, the mean FEV1 / FVC (±Standard Deviation) was 54% (SD 15), mean FEV1 as a percentage of predicted was 46 (SD 19). Mean age, cigarettes per day, and pack year history was 62 yrs (SD 9), 25 cigarettes / day (SD 16) and 53 pack years (SD 31), respectively. One hundred and twelve European subjects who had smoked a m...

example 3

II. Example 3

Case Association Study—Lung Cancer

Methods

Subject Recruitment

[0299]Subjects of European decent who had smoked a minimum of fifteen pack years and diagnosed with lung cancer were recruited. Subjects met the following criteria: diagnosed with lung cancer based on radiological and histological grounds, including primary lung cancers with histological types of small cell lung cancer, squamous cell lung cancer, adenocarinoma of the lung, non-small cell cancer (where histological markers can not distinguish the subtype) and broncho-alveolar carcinoma. Subjects can be of any age and at any stage of treatment after the diagnosis had been confirmed. One hundred and nine subjects were recruited, of these 58% were male, the mean FEV1 / FVC (±95% confidence limits) was 51% (49-53), mean FEV1 as a percentage of predicted was 43 (41-45). Mean age, cigarettes per day and pack year history was 65 yrs (64-66), 24 cigarettes / day (22-25) and 50 pack years (41-55) respectively. Two hundred an...

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Abstract

The present invention provides methods for the assessment of diseases that result from the combined or interactive effects of two or more genetic variants, and in particular for diagnosing risk of developing such diseases in subjects using an analysis of genetic polymorphisms. Methods for the derivation of a net score indicative of a subject's risk of developing a disease are provided.

Description

RELATED APPLICATIONS[0001]This application claims priority to New Zealand Application Nos. 540249, filed May 20, 2005 and 541842, filed Aug. 15, 2005, both of which are incorporated by reference in their entireties.FIELD OF THE INVENTION[0002]The present invention is concerned with methods for the assessment of diseases that result from the combined or interactive effects of two or more genetic variants, and in particular for diagnosing risk of developing such diseases in subjects using an analysis of genetic polymorphisms.BACKGROUND OF THE INVENTION[0003]Diseases that result from the combined or interactive effects of two or more genetic variants, with or without environmental factors, are called complex diseases and include cancer, coronary artery disease, diabetes, stroke, and chronic obstructive pulmonary disease (COPD). Although combining non-genetic risk factors to determine a risk level of outcome has been in applied to coronary artery disease, (by combining individual factor...

Claims

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Application Information

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Patent Type & AuthorityApplications(United States)
IPC IPC(8): A61K38/43A61P35/00G06F19/00
CPCC12Q1/6883C12Q2600/172C12Q2600/156A61P35/00Y02A90/10
InventorYOUNG, ROBERT PETER
OwnerSYNERGENZ BIOSCIENCE LTD