Disease
Disease refers to any condition that impairs the normal functioning of an organism. It encompasses a wide range of health conditions, from infectious diseases caused by pathogens to chronic non-communicable diseases influenced by genetics and lifestyle. Historically, the understanding of disease causation has evolved from early beliefs to a scientific approach involving pathogens, environmental factors, and genetic predispositions.
Many diseases, particularly complex ones, have a significant genetic component, meaning an individual’s DNA can influence their susceptibility or resistance to developing a condition. Variations in the human genome, such as Single Nucleotide Polymorphisms (SNPs), can subtly alter gene function or regulation, thereby increasing or decreasing disease risk. Genome-Wide Association Studies (GWAS) have revolutionized the identification of such genetic variants by scanning the entire genome for common genetic markers that are associated with a disease[1]. These studies compare the genetic profiles of individuals with a disease (cases) to those without (controls) to pinpoint specific loci involved in disease pathogenesis[1]. For example, GWAS have identified susceptibility loci for conditions like Kawasaki disease[2], celiac disease[3], late-onset Alzheimer disease[4], cardiovascular disease[5], Crohn’s disease[6], and Parkinson’s disease[7], as well as coronary artery disease[8].
Understanding the genetic underpinnings of disease has profound clinical relevance. Genetic information can contribute to improved risk prediction, allowing for earlier intervention or targeted screening for individuals at higher genetic risk. It also aids in more precise diagnosis, distinguishing between similar conditions, and can inform personalized treatment strategies by predicting an individual’s response to certain medications or therapies. Furthermore, identifying disease-associated genes and pathways opens avenues for developing novel therapeutic targets and preventive measures.
The study of disease, including its genetic aspects, holds significant social importance. From a public health perspective, understanding disease prevalence and risk factors, including genetic ones, helps in designing effective prevention programs and resource allocation. Economically, diseases impose substantial burdens on healthcare systems and productivity, making research into their causes and treatments a priority. Socially, the knowledge gained about genetic predispositions can empower individuals to make informed lifestyle choices, though it also raises ethical considerations regarding genetic privacy, discrimination, and equitable access to genetic testing and personalized medicine.
Methodological and Statistical Constraints
Section titled “Methodological and Statistical Constraints”Genome-wide association studies (GWAS) inherently face several methodological and statistical limitations that influence the interpretation and generalizability of their findings. A significant challenge often stems from sample size; for instance, a study on a relatively rare disease acknowledged that its modest sample size reflected recruitment difficulties, leading to an initial GWAS power of approximately 50% to detect an odds ratio of 2.0 ogenous molecules, thereby affecting individual responses to medications and susceptibility to kidney-related issues. The variantrs10487142 in DYNC1I1 could impact intracellular transport and cell division, given that DYNC1I1 is a component of the dynein motor complex vital for these cellular functions. Genome-wide association studies (GWAS) frequently investigate genetic factors contributing to complex diseases, providing a framework for understanding such associations [1]. These studies are essential for identifying loci associated with various disease susceptibilities[6].
Other variants play roles in fundamental cellular regulation and development. The rs11770148 variant in MAD1L1 is relevant due to MAD1L1’s critical function in the spindle assembly checkpoint, a mechanism ensuring accurate chromosome segregation during cell division. Deviations here can lead to genomic instability, a hallmark of many cancers. Meanwhile, rs936146 in FOXP2 is of significant interest because FOXP2 is a transcription factor with a well-established role in the development of speech and language abilities, with variations linked to specific communication disorders. The long non-coding RNA LINC02356, affected by rs10774624 , likely exerts regulatory control over gene expression, influencing cellular processes that can impact disease progression. Furthermore, the region encompassingUSP24 and MIR4422HG, with variant rs539609503 , involves a deubiquitinating enzyme (USP24) and a microRNA host gene, both influencing protein stability and gene regulation, which are fundamental to health and disease. Such genetic variations are frequently explored for their impact on disease risk in studies focusing on familial conditions like Parkinson’s disease[7] and various age-related phenotypes [9].
Variants associated with immune function and specific tissue development also contribute to the complex landscape of human health. For example, rs2739466 in KLK2(Kallikrein Related Peptidase 2) is noteworthy as kallikreins are proteases involved in various physiological functions, including prostate health, and their dysregulation can be implicated in cancer development. Within the highly polymorphic Major Histocompatibility Complex (MHC) region, theHCG22 gene, harboring rs2517521 , plays a role in immune response modulation, with variants potentially influencing susceptibility to autoimmune or inflammatory diseases. Additionally, rs964184 in ZPR1, a zinc finger protein, is implicated in cell proliferation and survival, suggesting its variants could affect fundamental cellular growth control and potentially neurodegenerative pathways. The identification of such associated variants provides insights into disease mechanisms and can inform the development of therapeutic strategies, as seen in research into conditions like Kawasaki disease[2]and inflammatory bowel disease[10].
Defining Disease: Conceptual Frameworks and Operational Parameters
Section titled “Defining Disease: Conceptual Frameworks and Operational Parameters”A disease is broadly understood as a specific medical condition, exemplified by disorders such as coronary artery disease, Kawasaki disease, and various forms of inflammatory bowel disease.[8]These conditions represent distinct pathologies that can be differentiated from general risk factors, which are often antecedent states like diabetes, hypertension, or hyperlipidemia.[8]The conceptual framework for studying disease frequently involves investigating genetic correlates that may influence susceptibility, progression, or manifestation.[9] Operationally, diseases and their associated traits are defined and characterized through various measurement approaches, which include survival traits, dichotomous traits, and quantitative traits, each requiring specific analytical methodologies. [9]
Diagnostic and Measurement Criteria
Section titled “Diagnostic and Measurement Criteria”Diagnostic criteria are fundamental for the clinical identification and research classification of diseases and their associated risk factors. For instance, conditions like diabetes, hypertension, and hyperlipidemia are identified when individuals meet specific diagnostic criteria or are receiving treatment for these conditions.[8]In research settings, the precise measurement of disease-related traits employs a range of statistical models to establish operational definitions and thresholds. Quantitative traits, such as body-mass index, are measured using specific formulas (e.g., weight in kilograms divided by the square of height in meters) and typically analyzed with linear regression.[8]Survival traits are often assessed using Cox proportional hazards with martingale residuals, while dichotomous traits are analyzed via logistic regression with deviance residuals, demonstrating distinct research criteria tailored to different disease manifestations.[9]These rigorous measurement approaches are critical for systematically studying disease associations, including genetic predispositions.
Classification and Nomenclature of Specific Diseases
Section titled “Classification and Nomenclature of Specific Diseases”The classification of human diseases involves categorizing distinct medical conditions, encompassing a wide array of disorders such as coronary artery disease, Kawasaki disease, and inflammatory bowel diseases like Crohn’s disease.[8]This nosological approach facilitates the systematic investigation of specific pathologies, including neurological conditions such as Parkinson disease and late-onset Alzheimer disease, as well as autoimmune disorders like celiac disease.[7]Standardized nomenclature ensures clarity and consistency in scientific communication, distinguishing between primary disease states and related concepts such as subclinical atherosclerosis or broader cardiovascular disease outcomes.[11]These classifications are essential for conducting large-scale investigations, such as genome-wide association studies across multiple common diseases, by providing a common vocabulary for disease identification and analysis.[1]
Signs and Symptoms
Section titled “Signs and Symptoms”Subclinical Manifestations and Objective Assessment
Section titled “Subclinical Manifestations and Objective Assessment”Coronary Artery Disease (CAD) frequently progresses without immediate, overt symptoms, with subclinical atherosclerosis representing a crucial early manifestation[11]. This underlying arterial pathology can be objectively assessed across major arterial territories, even before individuals report typical symptoms like chest pain or shortness of breath[11]. The focus on identifying subclinical atherosclerosis underscores the importance of objective measurement approaches, such as various imaging modalities, to detect disease progression. The presence and extent of subclinical atherosclerosis serve as a significant diagnostic sign, indicating early disease activity and informing the potential for future cardiovascular events.
Genetic Susceptibility and Risk Stratification
Section titled “Genetic Susceptibility and Risk Stratification”Genetic predispositions act as significant indicators of an individual’s susceptibility to CAD and related cardiovascular outcomes[8]. Genome-wide association analyses are key measurement approaches used to identify specific genetic loci that correlate with an increased risk for developing these conditions [8]. While genetic markers alone do not yet provide clinically useful prediction in all cases, they contribute to understanding inter-individual variation in disease risk[1]. The identification of these genetic correlates offers valuable prognostic insights, signaling a higher likelihood of disease development and guiding personalized preventive strategies.
Phenotypic Variability and Age-Related Presentation
Section titled “Phenotypic Variability and Age-Related Presentation”The presentation of cardiovascular disease exhibits considerable phenotypic diversity and heterogeneity, significantly influenced by age[9]. Studies investigating age-related phenotypes reveal how cardiovascular outcomes can manifest differently across an individual’s lifespan, with varying severity ranges and presentation patterns[9]. This inter-individual variation means that while some individuals may develop typical signs earlier, others might experience late-onset manifestations or atypical presentations. Understanding these diverse patterns, including how genetic factors correlate with longevity and age-related traits, is essential for a comprehensive diagnostic approach and for tailoring interventions to specific patient profiles.
Causes
Section titled “Causes”The etiology of this disease is complex and multifactorial, involving a significant interplay between an individual’s genetic makeup and various external influences. Research, primarily through genome-wide association studies (GWAS), has illuminated many genetic susceptibility loci, while also highlighting the modulating roles of environment and age.
Genetic Architecture and Susceptibility
Section titled “Genetic Architecture and Susceptibility”A substantial component of the disease’s risk is attributed to an individual’s genetic architecture, which is often polygenic, meaning multiple genetic variants each contribute a small effect[1]. Genome-wide association studies have been instrumental in identifying numerous susceptibility loci across the human genome for various complex diseases. For instance, over 30 distinct susceptibility loci have been defined for Crohn’s disease[12], while novel loci have also been identified for Kawasaki disease[2], celiac disease[3], coronary artery disease[8], and inflammatory bowel disease[13]. These studies reveal that inherited variants, often in combination, contribute to disease risk, with specific examples including a chromosome 12 risk locus for late-onset Alzheimer disease[4]and susceptibility genes for familial Parkinson disease[7].
Environmental and Lifestyle Modulators
Section titled “Environmental and Lifestyle Modulators”Beyond genetic predispositions, environmental and lifestyle factors are understood to play a crucial role in the development and progression of complex diseases. While specific details regarding lifestyle choices, dietary habits, environmental exposures, socioeconomic conditions, or geographic influences are not extensively detailed in the provided genetic studies, these external elements are broadly recognized as significant modulators of disease risk. They can influence various biological pathways and contribute to the overall phenotypic expression of the disease, often interacting with an individual’s genetic background.
Complex Gene-Environment Interactions
Section titled “Complex Gene-Environment Interactions”The manifestation of this disease frequently arises from intricate interactions between an individual’s genetic susceptibility and environmental triggers. Genetic predispositions, as identified by large-scale association studies, do not always lead to disease in isolation; rather, their penetrance and expressivity can be significantly modified by environmental factors. Understanding the specific genetic variants provides a foundation for exploring how these inherited risks interact with various external stimuli, potentially initiating or exacerbating disease processes, thereby contributing to the disease’s complex etiology.
Age-Related and Other Contributing Factors
Section titled “Age-Related and Other Contributing Factors”Age is a well-established contributing factor to the development and progression of certain complex diseases. Research has highlighted the importance of age in conditions such as late-onset Alzheimer disease[4]and has explored genetic associations for onset age in Parkinson disease[14]. Furthermore, studies have investigated genetic correlates with longevity and other age-related phenotypes [9], underscoring how biological changes associated with aging can modify disease risk and presentation. The cumulative effect of genetic predispositions and environmental exposures over a lifetime contributes significantly to the age-dependent incidence and severity observed in many complex diseases.
Biological Background
Section titled “Biological Background”Understanding the biological underpinnings of disease involves exploring the intricate interplay of genetic predispositions, cellular processes, physiological disruptions, and their manifestations across various organ systems. Research frequently employs large-scale genomic studies to uncover the foundational elements contributing to susceptibility and progression.
Genetic Basis of Disease Susceptibility
Section titled “Genetic Basis of Disease Susceptibility”Diseases often have a complex genetic architecture, with numerous genetic variants contributing to individual susceptibility. Genome-wide association studies (GWAS) have been instrumental in identifying specific genomic regions, or loci, associated with an increased risk for various conditions [1]. For instance, such studies have revealed multiple susceptibility loci for conditions like Kawasaki disease, Crohn’s disease, and coronary artery disease, often implicating a large number of distinct genetic regions[2]. These identified loci can highlight genes whose variations influence disease risk, such as specific chromosome 12 and 3q22.3 risk loci for late-onset Alzheimer disease and coronary artery disease, respectively[4].
Beyond single genetic variants, the interplay between different genes can also modify disease risk. For example, specific GAB2 alleles have been shown to alter Alzheimer’s risk in individuals carrying the APOE epsilon4 allele, demonstrating complex gene-gene interactions that influence disease progression[15]. Similarly, research has identified susceptibility genes for familial Parkinson disease and genetic risk variants for celiac disease that are linked to immune response pathways, underscoring the diverse genetic contributions to disease pathogenesis[7]. These genetic insights provide a foundation for understanding the inherited predispositions that can lead to disease.
Cellular and Molecular Dysregulation
Section titled “Cellular and Molecular Dysregulation”At the cellular level, disease development is often characterized by the dysregulation of critical molecular pathways and cellular functions. For instance, the process of autophagy, a fundamental cellular mechanism for recycling damaged cell components, has been implicated in the pathogenesis of Crohn’s disease[6]. Disruptions in such metabolic and cellular maintenance processes can lead to cellular stress, inflammation, and ultimately tissue damage. The identification of specific genes, such as IL23R, as susceptibility loci for inflammatory bowel disease, points to the involvement of key receptors and their associated signaling pathways in disease mechanisms[16].
Key biomolecules, including specific proteins, enzymes, and receptors, play central roles in these molecular dysregulations. For example, the APOE protein, important in lipid metabolism, and the GAB2 adapter protein, involved in cell signaling, are critical biomolecules whose variants can influence neurological disease risk[15]. Alterations in the function or expression patterns of such regulatory proteins and receptors can disrupt normal cellular communication and lead to the homeostatic imbalances characteristic of various diseases.
Pathophysiological Processes and Immune Responses
Section titled “Pathophysiological Processes and Immune Responses”Many diseases involve complex pathophysiological processes, often stemming from disruptions in the body’s homeostatic balance and involving a significant immune component. Inflammatory conditions, such as celiac disease and inflammatory bowel disease, are directly linked to dysregulated immune responses, where the body’s defense mechanisms mistakenly attack its own tissues or overreact to environmental triggers[3]. The identification of genes like IL23R, a receptor critical for immune cell function, highlights how genetic predispositions can directly influence the immune system’s role in disease development[16].
Beyond immune-mediated diseases, other conditions also manifest through specific disease mechanisms that disrupt normal physiological functions. For instance, the implication of autophagy in Crohn’s disease pathogenesis suggests that impaired cellular waste removal and recycling can contribute to chronic inflammation and tissue damage in the gut[6]. These processes represent fundamental breakdowns in cellular and systemic regulation, often leading to chronic conditions that necessitate compensatory responses from the body, though these responses may not always be sufficient to restore full health.
Tissue, Organ, and Systemic Impacts
Section titled “Tissue, Organ, and Systemic Impacts”Diseases frequently exert specific effects on particular tissues and organs, leading to localized damage or dysfunction, but can also have widespread systemic consequences. Conditions like subclinical atherosclerosis, for example, primarily affect major arterial territories, leading to plaque buildup and hardening of arteries, which can then predispose individuals to broader cardiovascular disease outcomes[11]. This illustrates how localized tissue pathology can progress to impact the entire circulatory system. Similarly, neurodegenerative diseases such as late-onset Alzheimer disease and familial Parkinson disease specifically target neuronal tissues, leading to progressive loss of brain function[4].
The impact of disease can also be observed across different life stages, such as in pediatric-onset inflammatory bowel disease, which affects the gastrointestinal tract in younger individuals[10]. These organ-specific effects often involve intricate tissue interactions and communication disruptions that cascade into systemic consequences, affecting overall health and quality of life. Understanding these diverse impacts across various biological levels—from the cellular environment to whole organ systems—is crucial for developing comprehensive disease management strategies.
Pathways and Mechanisms
Section titled “Pathways and Mechanisms”The pathogenesis of complex diseases involves intricate networks of molecular pathways and regulatory mechanisms, often disrupted by genetic predisposition and environmental factors. Genome-wide association studies (GWAS) have identified numerous susceptibility loci for various common diseases, implicating distinct biological pathways that contribute to disease onset and progression. Understanding these pathways, their interactions, and their dysregulation is critical for elucidating disease mechanisms and identifying potential therapeutic interventions.
Immune and Inflammatory Pathway Dysregulation
Section titled “Immune and Inflammatory Pathway Dysregulation”Many chronic conditions, including inflammatory bowel diseases such as Crohn’s disease and celiac disease, as well as cardiovascular conditions like coronary artery disease and Kawasaki disease, are characterized by dysregulated immune and inflammatory signaling. These pathways typically involve the activation of specific receptors by ligands, which then trigger intracellular signaling cascades. For instance, theIL23Rgene, identified as a susceptibility locus for inflammatory bowel disease, plays a crucial role in T-cell differentiation and cytokine signaling, highlighting its involvement in chronic inflammation[16]. These cascades ultimately lead to the activation of transcription factors that control the expression of genes essential for immune responses and tissue homeostasis. Aberrant activation or suppression within these signaling networks can result in uncontrolled inflammation, leading to tissue damage and contributing significantly to disease progression.
Cellular Homeostasis and Stress Response Pathways
Section titled “Cellular Homeostasis and Stress Response Pathways”The maintenance of cellular homeostasis, particularly through processes that manage cellular stress and waste, is fundamental to health. Autophagy, a catabolic process responsible for the degradation and recycling of cellular components, has been implicated in the pathogenesis of diseases such as Crohn’s disease[6]. This mechanism is vital for cellular quality control, nutrient recycling, and adaptation to stress, ensuring the removal of damaged organelles and misfolded proteins. Dysregulation in autophagy can lead to the accumulation of cellular debris, impairing cell function and contributing to chronic inflammation and other disease phenotypes. Beyond autophagy, broader metabolic regulation ensures proper energy metabolism and biosynthesis, and perturbations in these pathways can trigger compensatory mechanisms that, if sustained, may contribute to disease progression.
Genetic Influence on Molecular Regulation
Section titled “Genetic Influence on Molecular Regulation”Genetic susceptibility loci identified through extensive genome-wide association studies for conditions ranging from coronary artery disease to Alzheimer’s disease often point to genes involved in fundamental molecular regulation[8]. These genetic variations can directly impact gene regulation, altering the transcriptional activity and expression levels of critical proteins. Beyond transcriptional control, post-translational modifications, such as phosphorylation, ubiquitination, and glycosylation, are crucial regulatory mechanisms that modulate protein activity, stability, and localization. These modifications, often influenced by an individual’s genetic makeup, can lead to allosteric changes that fine-tune protein function and interaction, and their disruption can directly contribute to the pathogenesis of various diseases by altering key signaling and metabolic flux.
Interconnected Networks and Systems-Level Integration
Section titled “Interconnected Networks and Systems-Level Integration”The development of complex diseases rarely stems from a single isolated pathway but rather from the intricate crosstalk and network interactions among multiple biological systems. In neurodegenerative disorders like Alzheimer’s disease, genetic factors such asAPOE ε4 and GAB2alleles influence lipid metabolism and synaptic function, illustrating a complex interplay of pathways that collectively contribute to disease risk and progression[15]. This systems-level integration demonstrates how dysregulation in one pathway can propagate throughout interconnected networks, leading to hierarchical regulatory shifts and the emergence of disease phenotypes that are more than the sum of their individual components. Understanding these broader network disruptions and their emergent properties is crucial for identifying novel therapeutic targets that can modulate multiple interacting pathways simultaneously, offering more comprehensive treatment strategies.
Pharmacogenetics
Section titled “Pharmacogenetics”Key Variants
Section titled “Key Variants”| RS ID | Gene | Related Traits |
|---|---|---|
| rs542761635 | STXBP5 | disease |
| rs2739466 | KLK2 | disease |
| rs539609503 | USP24 - MIR4422HG | disease |
| rs10774624 | LINC02356 | rheumatoid arthritis monokine induced by gamma interferon measurement C-X-C motif chemokine 10 measurement Vitiligo systolic blood pressure |
| rs2517521 | HCG22 | health trait staphylococcus seropositivity lactobacillus phage virus seropositivity clostridiales seropositivity age at diagnosis, hyperlipidemia |
| rs964184 | ZPR1 | very long-chain saturated fatty acid measurement coronary artery calcification vitamin K measurement total cholesterol measurement triglyceride measurement |
| rs16891156 | SLC22A2 | low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio cholesterol:total lipids ratio, blood VLDL cholesterol amount triglyceride measurement, high density lipoprotein cholesterol measurement cholesterol:totallipids ratio, intermediate density lipoprotein measurement triglycerides:totallipids ratio, intermediate density lipoprotein measurement |
| rs11770148 | MAD1L1 | disease sleep duration trait hypertension |
| rs10487142 | DYNC1I1 | disease |
| rs936146 | FOXP2 | disease |
Frequently Asked Questions About Disease
Section titled “Frequently Asked Questions About Disease”These questions address the most important and specific aspects of disease based on current genetic research.
1. Why do some diseases seem to run in my family?
Section titled “1. Why do some diseases seem to run in my family?”Many diseases have a strong genetic component, meaning variations in your DNA can influence your susceptibility or resistance. If certain genetic variations are common in your family, they can be passed down, increasing the risk for those conditions across generations. This is why you might see specific health issues appearing repeatedly within your relatives.
2. Could my DNA explain why I’m prone to certain health issues?
Section titled “2. Could my DNA explain why I’m prone to certain health issues?”Yes, absolutely. Small variations in your DNA, such as Single Nucleotide Polymorphisms (SNPs), can subtly change how your genes function or are regulated. These changes can increase or decrease your personal risk for developing specific conditions, even if others around you don’t experience them.
3. Is there a way to know my personal disease risks through genetics?
Section titled “3. Is there a way to know my personal disease risks through genetics?”Yes, genetic information can significantly improve risk prediction. Studies like Genome-Wide Association Studies (GWAS) identify genetic markers associated with diseases, which can help pinpoint individuals at higher genetic risk. This knowledge allows for earlier intervention or more targeted screening for those who need it.
4. Can a healthy lifestyle really beat my genetic disease risks?
Section titled “4. Can a healthy lifestyle really beat my genetic disease risks?”While your genes play a significant role, lifestyle choices are also very important, especially for complex diseases. Understanding your genetic predispositions can empower you to make informed lifestyle choices that might mitigate some of those risks. It’s about combining genetic knowledge with proactive health habits.
5. Could genetic information help doctors understand my unusual symptoms?
Section titled “5. Could genetic information help doctors understand my unusual symptoms?”Yes, genetic insights can aid in more precise diagnosis, especially when distinguishing between conditions with similar symptoms. By looking at specific genetic markers, doctors might be able to identify the underlying cause of your illness, leading to a clearer diagnosis.
6. Why do some treatments work for others but not for my condition?
Section titled “6. Why do some treatments work for others but not for my condition?”Your genetic makeup can influence how your body responds to certain medications and therapies. Understanding these genetic variations can help inform personalized treatment strategies, predicting which treatments are most likely to be effective for you and which might not work as well.
7. If I know my genetic risks, what can I actually do to stay healthy?
Section titled “7. If I know my genetic risks, what can I actually do to stay healthy?”Knowing your genetic risks allows for more targeted prevention. This could mean earlier intervention, specific screening tests, or making particular lifestyle adjustments. It also helps in developing new preventive measures and therapies tailored to disease-associated genes and pathways.
8. Does my ethnic background affect my disease risk?
Section titled “8. Does my ethnic background affect my disease risk?”Yes, genetic risk factors can vary across different populations. While studies scan the human genome generally, specific genetic variations associated with diseases can be more common or have different effects in certain ancestral groups. Research often considers diverse populations to pinpoint these differences.
9. Why do some people get sick young, but others stay healthy until old age?
Section titled “9. Why do some people get sick young, but others stay healthy until old age?”Genetics can influence the age at which certain diseases appear. For example, studies have identified specific genetic loci associated with the onset age of conditions like Parkinson’s disease and late-onset Alzheimer disease. Your genetic profile can contribute to when you might develop a condition.
10. What if doctors can’t find a clear cause for my illness?
Section titled “10. What if doctors can’t find a clear cause for my illness?”When a clear cause isn’t immediately apparent, exploring genetic underpinnings can be crucial. Identifying disease-associated genes and pathways can uncover the fundamental biological mechanisms behind an illness, potentially leading to a diagnosis and opening avenues for new therapies.
This FAQ was automatically generated based on current genetic research and may be updated as new information becomes available.
Disclaimer: This information is for educational purposes only and should not be used as a substitute for professional medical advice. Always consult with a healthcare provider for personalized medical guidance.
References
Section titled “References”[1] Wellcome Trust Case Control Consortium. “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.” Nature, 2007. PMID: 17554300.
[2] Burgner, D. “A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.”PLoS Genet, vol. 5, no. 1, 2009, p. e1000319.
[3] Hunt, K. A. et al. “Newly identified genetic risk variants for celiac disease related to the immune response.”Nat Genet, vol. 40, no. 4, 2008, pp. 395-402.
[4] Beecham, G. W. et al. “Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.”Am J Hum Genet, vol. 84, no. 1, 2009, pp. 35-43.
[5] Larson, M. G. et al. “Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.”BMC Med Genet, vol. 8, suppl. 1, 2007, p. S5.
[6] Rioux, J. D. et al. “Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.”Nat Genet, vol. 39, no. 5, 2007, pp. 596-604.
[7] Pankratz, N et al. “Genomewide association study for susceptibility genes contributing to familial Parkinson disease.”Hum Genet.
[8] Samani, N. J. et al. “Genomewide association analysis of coronary artery disease.”N Engl J Med, vol. 357, no. 5, 2007, pp. 443-53.
[9] Lunetta, K. L. et al. “Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.” BMC Med Genet, vol. 8, suppl. 1, 2007, p. S13.
[10] Kugathasan, S et al. “Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.”Nat Genet.
[11] O’Donnell, C. J. et al. “Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI’s Framingham Heart Study.”BMC Med Genet, vol. 8, suppl. 1, 2007, p. S4.
[12] Barrett, J. C. et al. “Genome-wide association defines more than 30 distinct susceptibility loci for Crohn’s disease.”Nat Genet, vol. 40, no. 8, 2008, pp. 955-62.
[13] Franke, A et al. “Systematic association mapping identifies NELL1 as a novel IBD disease gene.”PLoS One.
[14] Latourelle, JC et al. “Genomewide association study for onset age in Parkinson disease.”BMC Med Genet.
[15] Reiman, E. M. et al. “GAB2 alleles modify Alzheimer’s risk in APOE epsilon4 carriers.” Neuron, vol. 54, no. 5, 2007, pp. 713-21.
[16] Duerr, R. H. et al. “A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.”Science, vol. 314, no. 5804, 2006, pp. 1461-63.