Complex Diseases Overview

<p>Predisposition to complex diseases can occur without developing the disease.</p> Signup and view all the answers

<p>They exhibit predictable patterns of inheritance.</p> Signup and view all the answers

<p>Their expression depends heavily on environmental conditions.</p> Signup and view all the answers

<p>Autoimmune destruction of pancreatic β-cells</p> Signup and view all the answers

<p>Severe headaches</p> Signup and view all the answers

<p>It involves insulin resistance and normal insulin production.</p> Signup and view all the answers

<p>Exposure to nitrosourea compounds</p> Signup and view all the answers

<p>Liver failure</p> Signup and view all the answers

<p>HLA alleles B8 and B15</p> Signup and view all the answers

<p>It usually resolves after pregnancy.</p> Signup and view all the answers

<p>Villous atrophy</p> Signup and view all the answers

<p>Dermatitis Herpetiformis</p> Signup and view all the answers

<p>It interacts strongly with HLA-DQ2</p> Signup and view all the answers

<p>HLA-DQ2 and DQ8</p> Signup and view all the answers

<p>Butterfly Erythema</p> Signup and view all the answers

<p>Higher prevalence in families and twin studies</p> Signup and view all the answers

<p>Increased sun exposure</p> Signup and view all the answers

<p>Antinuclear antibodies (ANA) test</p> Signup and view all the answers

<p>Corticosteroids</p> Signup and view all the answers

<p>Genetic factors contribute to the disease's development.</p> Signup and view all the answers

<p>It compares disease frequency in relatives to the general population.</p> Signup and view all the answers

<p>As a measure of the contribution of genetic differences to variability in quantitative traits.</p> Signup and view all the answers

<p>HLA alleles play a major role in the genetic predisposition.</p> Signup and view all the answers

<p>Symptoms may vary in type and severity.</p> Signup and view all the answers

<p>The individual has a reduced risk of developing the disease.</p> Signup and view all the answers

<p>Genetic susceptibility does not imply certain disease onset.</p> Signup and view all the answers

<p>Montly income</p> Signup and view all the answers

<p>It only represents quantitative traits without accounting for quality.</p> Signup and view all the answers

<p>Heritability cannot be established.</p> Signup and view all the answers

<p>The presence of an alternative allele in at least 1% of the population.</p> Signup and view all the answers

<p>A greater number of genetic markers.</p> Signup and view all the answers

<p>It shows a higher frequency in northern regions.</p> Signup and view all the answers

<p>It likely evolved due to selective pressures from past diseases.</p> Signup and view all the answers

<p>Statistical genetic methods.</p> Signup and view all the answers

<p>They can only influence phenotype as single polymorphisms.</p> Signup and view all the answers

<p>It offers some resistance to HIV infection.</p> Signup and view all the answers

<p>Polymorphic genes cause minor differences in the population and influence disease risk without necessarily being mutated, complicating the creation of disease models due to their variable effects.</p> Signup and view all the answers

<p>The autoimmune aspect necessitates early intervention and ongoing monitoring to manage insulin levels, with potential treatments focusing on immunomodulation to protect β-cells.</p> Signup and view all the answers

<p>Environmental triggers like viral infections may initiate the autoimmune response in genetically predisposed individuals, leading to the destruction of pancreatic β-cells.</p> Signup and view all the answers

<p>Certain HLA alleles, such as B8 and B15, increase the risk of Type 1 Diabetes up to threefold, indicating that genetic factors can significantly influence the likelihood of developing the disease.</p> Signup and view all the answers

<p>Lifestyle changes, including diet and exercise, are fundamental in mitigating insulin resistance and controlling blood glucose levels in Type 2 Diabetes.</p> Signup and view all the answers

<p>Multiple genes and environmental factors contribute to complex diseases.</p> Signup and view all the answers

<p>Complex diseases do not follow Mendelian inheritance patterns and are influenced by multiple genetic and environmental factors.</p> Signup and view all the answers

<p>Genetic predisposition alone is not sufficient; multiple environmental factors also play a role in disease manifestation.</p> Signup and view all the answers

<p>Individuals can exhibit a wide range of symptoms and disease severity despite having the same condition.</p> Signup and view all the answers

<p>Exceeding certain thresholds of genetic and environmental risk factors can lead to the development of a complex disease.</p> Signup and view all the answers

<p>Celiac disease has three forms: Classical, characterized by intestinal symptoms; Atypical, with extraintestinal symptoms; and Asymptomatic, identified only through screening.</p> Signup and view all the answers

<p>HLA alleles DQ2 and DQ8 are strongly associated with celiac disease susceptibility, acting as essential but not sufficient factors for disease development.</p> Signup and view all the answers

<p>Gliadin forms resistant peptides that, when exposed by HLA-DQ2, activate T-lymphocytes, leading to an autoimmune attack on intestinal villi.</p> Signup and view all the answers

<p>SLE is driven by a combination of genetic predisposition, environmental triggers like sun exposure, hormonal influences, and immune system abnormalities.</p> Signup and view all the answers

<p>Diagnosis is challenging due to the absence of a single definitive test, reliance on patient history, physical examination, and various laboratory findings.</p> Signup and view all the answers

<p>Autoantibody testing, particularly for antinuclear antibodies (ANA) and anti-DNA antibodies, is crucial in diagnosing SLE and monitoring disease progression.</p> Signup and view all the answers

<p>Environmental factors such as stress, sun exposure, and certain medications can exacerbate SLE symptoms and trigger flares of the disease.</p> Signup and view all the answers

<p>Genetic polymorphisms provide stable genetic markers that can help identify variations associated with complex diseases, aiding in the understanding of their genetic architecture.</p> Signup and view all the answers

<p>The CCR5 D32 polymorphism results in a shorter receptor that is less susceptible to HIV entry into cells, providing protective effects against the virus.</p> Signup and view all the answers

<p>Such studies compare trait frequencies between monozygotic twins (genetically identical) and dizygotic twins (share half their genes), revealing the genetic contribution to specific traits.</p> Signup and view all the answers

<p>CNV is characterized by quantitative alterations in the genome that may influence disease susceptibility and can be identified using advanced genetic analysis techniques.</p> Signup and view all the answers

<p>These diseases likely created selective pressures that favored individuals with the D32 polymorphism, enhancing its frequency in populations largely affected by these infections.</p> Signup and view all the answers

<p>Overcoming multiple thresholds can lead to a variety of symptoms, with the severity increasing as more thresholds are surpassed.</p> Signup and view all the answers

<p>The relative risk ratio indicates how much more likely relatives of a proband are to develop a disease compared to the general population.</p> Signup and view all the answers

<p>A high HLA Risk Ratio indicates that HLA alleles play a significant role in contributing to the genetic predisposition of the disease.</p> Signup and view all the answers

<p>Heritability measures the extent to which genetic differences contribute to the variability of quantitative traits within a population.</p> Signup and view all the answers

<p>Genotype A has lower susceptibility to disease, while genotype B has a higher likelihood of developing the disease depending on environmental factors.</p> Signup and view all the answers

<p>Familial aggregation helps identify genetic factors by comparing disease frequency in relatives of affected individuals to the general population.</p> Signup and view all the answers

<p>Environmental history can modify the expression of genetic susceptibility, potentially leading to the development of the disease even in less susceptible genotypes.</p> Signup and view all the answers

<p>Gaussian curves present limitations as they primarily represent quantitative traits, while complex diseases often involve qualitative traits.</p> Signup and view all the answers

<p>A relative risk ratio of 1 indicates that the relatives of a proband have the same likelihood of developing the disease as the general population, suggesting no genetic contribution.</p> Signup and view all the answers

<p>It is difficult because multiple factors, including environmental influences and the norm of reaction, significantly impact disease development beyond genetic susceptibility.</p> Signup and view all the answers