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home:alternate:genetic_predisposition [08.29.2012] – [Read more] paulalbert | home:alternate:genetic_predisposition [09.14.2022] (current) – external edit 127.0.0.1 | ||
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- | Many researchers have long argued that most chronic diseases are caused by humans' | + | Many researchers have long argued that most chronic diseases are caused by humans' |
- | According to the [[home:: | + | According to the [[home:: |
< | < | ||
- | //**J. Craig Venter**, [[http:// | + | //**J. Craig Venter**, [[https:// |
</ | </ | ||
===== Human genetics as a cause for chronic disease ===== | ===== Human genetics as a cause for chronic disease ===== | ||
- | The bulk of the human genome was [[http:// | + | The bulk of the human genome was [[https:// |
Optimism that this avenue of research will improve clinical outcomes has always been high and is epitomized by this 2001 paper in //JAMA//: | Optimism that this avenue of research will improve clinical outcomes has always been high and is epitomized by this 2001 paper in //JAMA//: | ||
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It should be possible to identify disease gene associations for many common illnesses in the next 5 to 7 years. | It should be possible to identify disease gene associations for many common illnesses in the next 5 to 7 years. | ||
- | //**Francis Collins**, et al.// (({{pubmed> | + | //**Francis Collins**, et al.// (({{pmid> |
==== Failed promise of human genetic research ==== | ==== Failed promise of human genetic research ==== | ||
- | It may yet be too early to call human genomic research an unqualified failure, but certain researchers have noted a distinct lack of results, and limited progress in the genetic analysis of common diseases has been widely acknowledged: | + | It may yet be too early to call human genomic research an unqualified failure, but certain researchers have noted a distinct lack of results, and limited progress in the genetic analysis of common diseases has been widely acknowledged: |
- | * " | + | * " |
- | * "Much effort has been expended on research into their causes, with the aim of predicting who will be affected or preventing effects before they arise, but progress has been halting at best." | + | * "Much effort has been expended on research into their causes, with the aim of predicting who will be affected or preventing effects before they arise, but progress has been halting at best." |
- | * "Given the continuing difficulty of identifying genes for complex disorders in a robust, replicable manner, and the extensive resources devoted to this effort, it is becoming increasingly important to analyze the relative benefits of genomics research for public health applications and for the understanding of disease pathogenesis." | + | * "Given the continuing difficulty of identifying genes for complex disorders in a robust, replicable manner, and the extensive resources devoted to this effort, it is becoming increasingly important to analyze the relative benefits of genomics research for public health applications and for the understanding of disease pathogenesis." |
- | * " | + | * " |
- | In a striking image from a 1999 lecture, Francis Collins of the US National Human Genome Research Institute described a hypothetical consultation in 2010, in which a 23-year old man has a high concentration of cholesterol identified during screening and undergoes extensive genetic testing.(({{pubmed> | + | In a striking image from a 1999 lecture, Francis Collins of the US National Human Genome Research Institute described a hypothetical consultation in 2010, in which a 23-year old man has a high concentration of cholesterol identified during screening and undergoes extensive genetic testing.(({{pmid> |
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< | < | ||
- | //**Teri Manolio**, Director of the National Human Genome Research Institute’s Office of Population Genomics, discussing missing heritability in a 2009 [[http:// | + | //**Teri Manolio**, Director of the National Human Genome Research Institute’s Office of Population Genomics, discussing missing heritability in a 2009 [[https:// |
==== Conventional explanations for why genetic studies have failed | ==== Conventional explanations for why genetic studies have failed | ||
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* Disease is caused by the interaction between genes and the environment. | * Disease is caused by the interaction between genes and the environment. | ||
- | However, these reasons do not account for the fact that few, if any, "high penetrance" | + | However, these reasons do not account for the fact that few, if any, "high penetrance" |
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Even researchers studying a high-priority, | Even researchers studying a high-priority, | ||
- | Genetic mutations are rampant in cancerous tissue: compared to tissue from a healthy age-matched control, a lung cancer patient may have as many as 50,000 genetic mutations.(({{pubmed> | + | Genetic mutations are rampant in cancerous tissue: compared to tissue from a healthy age-matched control, a lung cancer patient may have as many as 50,000 genetic mutations.(({{pmid> |
- | However, among the inherited cancer syndromes with no readily discernible environmental influence, it is thought that only 1-2% are caused by high penetrance (high-risk) human genes.(({{pubmed> | + | However, among the inherited cancer syndromes with no readily discernible environmental influence, it is thought that only 1-2% are caused by high penetrance (high-risk) human genes.(({{pmid> |
- | When diseases are not inherited in Mendelian ratios - somewhere between [[http:// | + | When diseases are not inherited in Mendelian ratios - somewhere between [[https:// |
< | < | ||
Monozygotic twins share the same genotype because they are derived from the same zygote. However, monozygotic twin siblings frequently present many phenotypic differences, | Monozygotic twins share the same genotype because they are derived from the same zygote. However, monozygotic twin siblings frequently present many phenotypic differences, | ||
- | //**P. Poulsen**, et al.// (({{pubmed> | + | //**P. Poulsen**, et al.// (({{pmid> |
- | One study found that genetic concordance rates for identical twin pairs by age 75 years were only 11% for colorectal cancer, 13% for breast cancer and 18% for prostate cancer, and these were lower in dizygotic twins (5%, 9% and 3%, respectively).(({{pubmed> | + | One study found that genetic concordance rates for identical twin pairs by age 75 years were only 11% for colorectal cancer, 13% for breast cancer and 18% for prostate cancer, and these were lower in dizygotic twins (5%, 9% and 3%, respectively).(({{pmid> |
- | Infection with a bacteria called // | + | Infection with a bacteria called // |
- | Persistent human papillomavirus infections have been recognized as the major cause of cervical cancer and may play a role in some cancers of the anus, vulva, vagina, and penis.(({{pubmed> | + | Persistent human papillomavirus infections have been recognized as the major cause of cervical cancer and may play a role in some cancers of the anus, vulva, vagina, and penis.(({{pmid> |
< | < | ||
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- | In a 2000 paper co-written with Ewald, Cochran and Cochran trace the long and seemingly inevitable acceptance of chronic diseases as being caused by infectious agents rather than genetic predisposition.(({{pubmed> | + | In a 2000 paper co-written with Ewald, Cochran and Cochran trace the long and seemingly inevitable acceptance of chronic diseases as being caused by infectious agents rather than genetic predisposition.(({{pmid> |
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==== Schizophrenia ==== | ==== Schizophrenia ==== | ||
- | In 2009, a press conference at the World Conference of Science Journalists, | + | In 2009, a press conference at the World Conference of Science Journalists, |
< | < | ||
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Schizophrenia too seems to be not a single disease, but the end point of 10,000 different disruptions to the delicate architecture of the human brain. | Schizophrenia too seems to be not a single disease, but the end point of 10,000 different disruptions to the delicate architecture of the human brain. | ||
- | // | + | // |
</ | </ | ||
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===== Genes of tissue are different than blood ===== | ===== Genes of tissue are different than blood ===== | ||
- | One of the basic assumptions underlying many genome-wide association studies has been that the genetic makeup of all an individuals’ cells is essentially the same.(({{pubmed> | + | One of the basic assumptions underlying many genome-wide association studies has been that the genetic makeup of all an individuals’ cells is essentially the same.(({{pmid> |
- | However, recent evidence has emerged that the genes of at least some cells from the blood and tissue do not match genetically, | + | However, recent evidence has emerged that the genes of at least some cells from the blood and tissue do not match genetically, |
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//**Amy Proal, Paul Albert, and Trevor Marshall, PhD**// ((Proal AD //et al//. [[home: | //**Amy Proal, Paul Albert, and Trevor Marshall, PhD**// ((Proal AD //et al//. [[home: | ||
- | In their 2011 publication, | + | In their 2011 publication, |
< | < | ||
- | //**[[http:// | + | //**[[https:// |
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===== Bacteria are " | ===== Bacteria are " | ||
- | Strong evidence indicates that pathogens play the primary role in chronic disease. Scientists have confirmed that bacteria are [[home: | + | < |
- | * from mother | + | |
- | * from father to child via sperm(({{pubmed> | + | |
- | * through social contact(({{pubmed> | + | |
- | * via the [[home: | + | |
- | While there is no evidence that human genes contain instructions for chronic disease, there is reason to believe that a body's unique pathogenic load, its [[home: | + | //**Dusko Ehrlich**, [[https://www.nature.com/news/microbiome-sequencing-offers-hope-for-diagnostics-1.10299|Project Coordinator for MetaHIT]]//</ |
+ | Strong evidence indicates that pathogens play the primary role in chronic disease. Scientists have confirmed that bacteria are [[home: | ||
+ | * from mother to fetus during pregnancy(({{pmid> | ||
+ | * from father to child via sperm(({{pmid> | ||
+ | * through social contact(({{pmid> | ||
+ | * via the [[home: | ||
+ | |||
+ | While there is no evidence that human genes contain instructions for chronic disease, there is reason to believe that a body's unique pathogenic load, its [[home: | ||
===== Pathogens may cause genetic mutations ===== | ===== Pathogens may cause genetic mutations ===== | ||
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Few seem to appreciate that one's genome can change over a lifetime of accumulating pathogens. According to Marshall Pathogenesis, | Few seem to appreciate that one's genome can change over a lifetime of accumulating pathogens. According to Marshall Pathogenesis, | ||
- | * A 2011 //Nature Genetics// study found that as many as 20 percent of sporadic autism cases can be explained by //de novo// mutations, also known as spontaneous gene mutations.(({{pubmed> | + | * A 2011 //Nature Genetics// study found that as many as 20 percent of sporadic autism cases can be explained by //de novo// mutations, also known as spontaneous gene mutations.(({{pmid> |
* The HLA axis genes are often cited as predisposing a person to certain kinds of diseases. Yet, there is no determinate diagnostic value to be obtained by measuring genes in the HLA axis, which include HLA-DRA, HLA-DRB and HLA-DQ. None of the HLA haplotypes causes disease 100% of the time and none cause any one disease consistently. | * The HLA axis genes are often cited as predisposing a person to certain kinds of diseases. Yet, there is no determinate diagnostic value to be obtained by measuring genes in the HLA axis, which include HLA-DRA, HLA-DRB and HLA-DQ. None of the HLA haplotypes causes disease 100% of the time and none cause any one disease consistently. | ||
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Down syndrome is a disease in which one of three types of abnormal cell division involving the 21st chromosome occur. Except | Down syndrome is a disease in which one of three types of abnormal cell division involving the 21st chromosome occur. Except | ||
- | The risk for Down syndrome increases as a woman ages (right).(({{pubmed> | + | The risk for Down syndrome increases as a woman ages (right).(({{pmid> |
- | Descriptions of the etiology of Down syndrome usually offer that the disease occurs, [[http:// | + | Descriptions of the etiology of Down syndrome usually offer that the disease occurs, [[https:// |
According to the basic principles of [[home: | According to the basic principles of [[home: | ||
- | Pathogens are one plausible explanation for the causation of fetal development defects like Down syndrome. Researchers have documented that pathogens are present in the human sperm(({{pubmed> | + | Pathogens are one plausible explanation for the causation of fetal development defects like Down syndrome. Researchers have documented that pathogens are present in the human sperm(({{pmid> |
Also, this: | Also, this: | ||
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Even relatively straightforward traits such as height have resisted attempts to reduce it to a particular combination of genes. In light of this shortcoming, | Even relatively straightforward traits such as height have resisted attempts to reduce it to a particular combination of genes. In light of this shortcoming, | ||
- | Bacteria make widespread use of postreplicative DNA methylation for the epigenetic control of DNA-protein interactions. Bacteria make use of DNA adenine methylation (rather than DNA cytosine methylation) as an epigenetic signal. DNA adenine methylation is important in bacteria virulence in organisms such as // | + | Bacteria make widespread use of postreplicative DNA methylation for the epigenetic control of DNA-protein interactions. Bacteria make use of DNA adenine methylation (rather than DNA cytosine methylation) as an epigenetic signal. DNA adenine methylation is important in bacteria virulence in organisms such as // |
===== Read more ===== | ===== Read more ===== | ||
- | * [[http:// | + | * |
- | * [[http:// | + | * [[https:// |
- | * [[http:// | + | * [[https:// |
- | * [[http:// | + | * [[https:// |
- | * [[http:// | + | * [[https:// |
- | {{tag> | + | {{tag> |
+ | < | ||
===== Notes and comments ===== | ===== Notes and comments ===== | ||
+ | //broken link// | ||
+ | [[https:// | ||
+ | &# | ||
+ | // | ||
+ | further down @ &# | ||
+ | //deleted repetition of// an from triumph**an**antly | ||
- | [[http:// | + | |
+ | [[https:// | ||
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< | < | ||
- | http:// | + | https:// |
..Trevor.. | ..Trevor.. | ||
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* This paper is interesting. I wonder what Trevor would have to say about it. --- //Paul Albert 2008/12/30 17: | * This paper is interesting. I wonder what Trevor would have to say about it. --- //Paul Albert 2008/12/30 17: | ||
- | {{pubmed> | + | {{pmid> |
* Legacy content | * Legacy content | ||
* | * | ||
- | < | + | < |
- | http:// | + | https:// |
"Also VDR gene, that is a component of ligand (steroid)-dependent nuclear transcription factor superfamily, | "Also VDR gene, that is a component of ligand (steroid)-dependent nuclear transcription factor superfamily, | ||
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< | < | ||
- | http:// | + | https:// |
</ | </ | ||
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"Brute force alone -- sequencing -- will not help," he said. " | "Brute force alone -- sequencing -- will not help," he said. " | ||
Numerous scientists from other institutions were involved, including those from Johns Hopkins University, University of Pennsylvania, | Numerous scientists from other institutions were involved, including those from Johns Hopkins University, University of Pennsylvania, | ||
- | ===== References ===== | + | ===== References =====</ |