Multifactorial Disease

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Sophie Garnier - One of the best experts on this subject based on the ideXlab platform.

  • involvement of bag3 and hspb7 loci in various etiologies of systolic heart failure results of a european collaboration assembling more than 2000 patients
    International Journal of Cardiology, 2015
    Co-Authors: Sophie Garnier, Christian Hengstenberg, Nicolas Lamblin, Olivier Dubourg, Pascal De Groote, Laurent Fauchier, Jean Noel Trochu, Eloisa Arbustini
    Abstract:

    Heart failure (HF), a major public health burden affecting 2% of industrialized populations, is a syndrome resulting from structural or functional myocardial impairment leading to inadequate cardiac output to meet the body's metabolic demands [1]. Half of HF patients present systolic dysfunction (systolic-HF), also called reduced ejection fraction (HF-REF), a Disease related to various causes including idiopathic Dilated Cardiomyopathy (DCM) and Coronary Artery Diseases (CAD) (ischemic-HF). HF is usually a Multifactorial Disease but the genetic variants contributing to its susceptibility or its severity may be different according to its underlying causes [2] and their identification is only beginning.[...]

  • involvement of bag3 and hspb7 loci in various etiologies of systolic heart failure results of a european collaboration assembling more than 2000 patients
    International Journal of Cardiology, 2015
    Co-Authors: Sophie Garnier, Christian Hengstenberg, Nicolas Lamblin, Olivier Dubourg, Pascal De Groote, Laurent Fauchier, Jean Noel Trochu, Eloisa Arbustini
    Abstract:

    Heart failure (HF), a major public health burden affecting 2% of industrialized populations, is a syndrome resulting from structural or functional myocardial impairment leading to inadequate cardiac output to meet the body's metabolic demands [1]. Half of HF patients present systolic dysfunction (systolic-HF), also called reduced ejection fraction (HF-REF), a Disease related to various causes including idiopathic Dilated Cardiomyopathy (DCM) and Coronary Artery Diseases (CAD) (ischemic-HF). HF is usually a Multifactorial Disease but the genetic variants contributing to its susceptibility or its severity may be different according to its underlying causes [2] and their identification is only beginning.[...]

D. J. Du Plessis - One of the best experts on this subject based on the ideXlab platform.

  • Does urokinase play a role in renal stone formation
    Medical Hypotheses, 1997
    Co-Authors: P.j. Du Toit, C. H. Van Aswegen, C.m.l. Steinmann, L. Klue, D. J. Du Plessis
    Abstract:

    Renal stone formation is a complex Multifactorial Disease, and it is believed that the initial step in the pathogenesis of urolithiasis must be the precipitation of an organic matrix of mucoproteins followed by precipitation of minerals onto this matrix. An important factor in this process may be the activity and/or concentration of the urinary enzyme, urokinase, which would affect the level of urinary mucoproteins such as uromucoid. In support of this hypothesis, ELISA studies were conducted to investigate the urokinase concentrations in urine obtained from males (22-60 years) with and without renal stones. These results showed a significant decrease in urinary urokinase concentration of renal stone patients which, once again, underlines the possible involvement of urokinase in renal stone formation. Therefore, it seems logical to conclude that urokinase may play an integral role in this Multifactorial Disease.

  • A biochemical approach to renal stone formation.
    Advances in Clinical Chemistry Volume 29, 1992
    Co-Authors: C. H. Van Aswegen, D. J. Du Plessis
    Abstract:

    Publisher Summary This chapter a biochemical approach to renal stone formation. The chapter focuses on the three main theories concerning stone formation in the urinary tract—namely, the precipitation theory, the theory of the lack of inhibitors, and the matrix theory. The chapter considers all of them to be applicable in this Multifactorial Disease. However, the chapter focuses only on the matrix theory as it appears to form the basis of urolithiasis. Urinary stones are the final product and chief symptom of a many-faceted Disease of Multifactorial etiology. From the mineralogist's viewpoint, a stone is a solid aggregate of complex composition precipitated from a supersaturated solution. The pathogenesis of kidney stones may be attributed to a number of different causes, but the first step in urolithiasis is probably the precipitation of glycoproteins. The cause of this precipitation is still unclear and open to speculation. Nevertheless, whatever is the answer to this complex Multifactorial Disease, the activity and concentration of urinary enzymes play an important role in the supplementation of traditional risk factors and new investigations.

C. H. Van Aswegen - One of the best experts on this subject based on the ideXlab platform.

  • Does urokinase play a role in renal stone formation
    Medical Hypotheses, 1997
    Co-Authors: P.j. Du Toit, C. H. Van Aswegen, C.m.l. Steinmann, L. Klue, D. J. Du Plessis
    Abstract:

    Renal stone formation is a complex Multifactorial Disease, and it is believed that the initial step in the pathogenesis of urolithiasis must be the precipitation of an organic matrix of mucoproteins followed by precipitation of minerals onto this matrix. An important factor in this process may be the activity and/or concentration of the urinary enzyme, urokinase, which would affect the level of urinary mucoproteins such as uromucoid. In support of this hypothesis, ELISA studies were conducted to investigate the urokinase concentrations in urine obtained from males (22-60 years) with and without renal stones. These results showed a significant decrease in urinary urokinase concentration of renal stone patients which, once again, underlines the possible involvement of urokinase in renal stone formation. Therefore, it seems logical to conclude that urokinase may play an integral role in this Multifactorial Disease.

  • A biochemical approach to renal stone formation.
    Advances in Clinical Chemistry Volume 29, 1992
    Co-Authors: C. H. Van Aswegen, D. J. Du Plessis
    Abstract:

    Publisher Summary This chapter a biochemical approach to renal stone formation. The chapter focuses on the three main theories concerning stone formation in the urinary tract—namely, the precipitation theory, the theory of the lack of inhibitors, and the matrix theory. The chapter considers all of them to be applicable in this Multifactorial Disease. However, the chapter focuses only on the matrix theory as it appears to form the basis of urolithiasis. Urinary stones are the final product and chief symptom of a many-faceted Disease of Multifactorial etiology. From the mineralogist's viewpoint, a stone is a solid aggregate of complex composition precipitated from a supersaturated solution. The pathogenesis of kidney stones may be attributed to a number of different causes, but the first step in urolithiasis is probably the precipitation of glycoproteins. The cause of this precipitation is still unclear and open to speculation. Nevertheless, whatever is the answer to this complex Multifactorial Disease, the activity and concentration of urinary enzymes play an important role in the supplementation of traditional risk factors and new investigations.

Eloisa Arbustini - One of the best experts on this subject based on the ideXlab platform.

  • involvement of bag3 and hspb7 loci in various etiologies of systolic heart failure results of a european collaboration assembling more than 2000 patients
    International Journal of Cardiology, 2015
    Co-Authors: Sophie Garnier, Christian Hengstenberg, Nicolas Lamblin, Olivier Dubourg, Pascal De Groote, Laurent Fauchier, Jean Noel Trochu, Eloisa Arbustini
    Abstract:

    Heart failure (HF), a major public health burden affecting 2% of industrialized populations, is a syndrome resulting from structural or functional myocardial impairment leading to inadequate cardiac output to meet the body's metabolic demands [1]. Half of HF patients present systolic dysfunction (systolic-HF), also called reduced ejection fraction (HF-REF), a Disease related to various causes including idiopathic Dilated Cardiomyopathy (DCM) and Coronary Artery Diseases (CAD) (ischemic-HF). HF is usually a Multifactorial Disease but the genetic variants contributing to its susceptibility or its severity may be different according to its underlying causes [2] and their identification is only beginning.[...]

  • involvement of bag3 and hspb7 loci in various etiologies of systolic heart failure results of a european collaboration assembling more than 2000 patients
    International Journal of Cardiology, 2015
    Co-Authors: Sophie Garnier, Christian Hengstenberg, Nicolas Lamblin, Olivier Dubourg, Pascal De Groote, Laurent Fauchier, Jean Noel Trochu, Eloisa Arbustini
    Abstract:

    Heart failure (HF), a major public health burden affecting 2% of industrialized populations, is a syndrome resulting from structural or functional myocardial impairment leading to inadequate cardiac output to meet the body's metabolic demands [1]. Half of HF patients present systolic dysfunction (systolic-HF), also called reduced ejection fraction (HF-REF), a Disease related to various causes including idiopathic Dilated Cardiomyopathy (DCM) and Coronary Artery Diseases (CAD) (ischemic-HF). HF is usually a Multifactorial Disease but the genetic variants contributing to its susceptibility or its severity may be different according to its underlying causes [2] and their identification is only beginning.[...]

Ja Todd - One of the best experts on this subject based on the ideXlab platform.

  • Evaluation of fine mapping strategies for a Multifactorial Disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21
    Human molecular genetics, 2000
    Co-Authors: Mathias H. Herr, Frank Dudbridge, Patrizia Zavattari, Francesco Cucca, Cristian Guja, Ruth March, Rd Campbell, Ah Barnett, Sc Bain, Ja Todd
    Abstract:

    The positional cloning of Multifactorial Disease genes is a major challenge in human genetics. We have therefore empirically tested the utility of the available polymorphic microsatellite map to locate the already identified type 1 diabetes locus IDDM1 (sibling risk/population prevalence ratio lambda(s)= 2.7) within a 14 Mb region of chromosome 6p21 linked to Disease. In a two-stage approach to fine mapping, linkage was evaluated in 385 affected sib-pair families using 13 evenly spaced polymorphic microsatellite markers. The whole 14 Mb showed strong linkage. Then, each marker was analysed for evidence of allelic association, revealing evidence of Disease association at one marker located within the 95% confidence interval of 1.7 cM obtained by linkage. Analysis of an additional 12 markers flanking this marker revealed a highly specific region of 570 kb associated with Disease ( P = 7.5 x 10(-35)), which included the HLA class II genes, known to be the primary determinants of IDDM1. The peak of association was as close as 85 kb centromeric of the Disease-predisposing class II gene HLA-DQB1. We investigated the importance of the underlying inter-marker linkage disequilibrium, marker informativity and recombination for fine mapping and demonstrate that the majority of Disease association in the region can be explained by linkage disequilibrium with the class II susceptibility genes. Recombination within the major histocompatibility complex was rare and nearly absent in the class III region. We demonstrate that fine mapping of a Multifactorial Disease gene is possible with high accuracy even in a region with extraordinary linkage disequilibrium across distances of several Mb. The results will be applicable to association studies of Disease loci with lambda(s)values

  • evaluation of fine mapping strategies for a Multifactorial Disease locus systematic linkage and association analysis of iddm1 in the hla region on chromosome 6p21
    Human Molecular Genetics, 2000
    Co-Authors: Mathias Herr, Frank Dudbridge, Patrizia Zavattari, Francesco Cucca, Cristian Guja, Ruth March, Rd Campbell, Ah Barnett, Sc Bain, Ja Todd
    Abstract:

    The positional cloning of Multifactorial Disease genes is a major challenge in human genetics. We have therefore empirically tested the utility of the available polymorphic microsatellite map to locate the already identified type 1 diabetes locus IDDM1 (sibling risk/population prevalence ratio lambda(s)= 2.7) within a 14 Mb region of chromosome 6p21 linked to Disease. In a two-stage approach to fine mapping, linkage was evaluated in 385 affected sib-pair families using 13 evenly spaced polymorphic microsatellite markers. The whole 14 Mb showed strong linkage. Then, each marker was analysed for evidence of allelic association, revealing evidence of Disease association at one marker located within the 95% confidence interval of 1.7 cM obtained by linkage. Analysis of an additional 12 markers flanking this marker revealed a highly specific region of 570 kb associated with Disease ( P = 7.5 x 10(-35)), which included the HLA class II genes, known to be the primary determinants of IDDM1. The peak of association was as close as 85 kb centromeric of the Disease-predisposing class II gene HLA-DQB1. We investigated the importance of the underlying inter-marker linkage disequilibrium, marker informativity and recombination for fine mapping and demonstrate that the majority of Disease association in the region can be explained by linkage disequilibrium with the class II susceptibility genes. Recombination within the major histocompatibility complex was rare and nearly absent in the class III region. We demonstrate that fine mapping of a Multifactorial Disease gene is possible with high accuracy even in a region with extraordinary linkage disequilibrium across distances of several Mb. The results will be applicable to association studies of Disease loci with lambda(s)values <2.7 except that much larger data sets will be required.