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Genetic Epidemiology

Stack #175271

Epidemiology The study of agents affecting health and illness in populations and the foundation of public health and preventative medicine
Attributable fraction That proportion of a disease that could be eliminated by removing the risk factor (allelic variant or environmental exposure for example) from the population.
Odds Ratio The odds of a disease occurring in one group compared to the odds of it occurring in a comparison group. Most often applied in case-control studies.
Relative Risk Probability of a disease occurring in an exposed compared to an unexposed group. Most often used in controlled trials and cohort studies.
Genome Wide Association Study A comprehensive study of a set of SNPs across the entire genome to determine association with a disease and with no prior hypothesis on which SNP/gene might be associated
Twin design compares the similarity of identical twins who share 100% of their genes, to that of dizygotic or fraternal twins, who share only 50% of their genes.
Twin studies help researchers understand the role of genetic effects, and the effects of shared and unique environment effects.
segregation analysis The determination of the number of progeny that have inherited distinct and mutually exclusive phenotypes. compare all possible models to observed data
H squared The proportion of the total variance for a trait caused by genes H is approx=1 with height
odds ratio the ratio of the odds of an event occurring in one group compared to the odds of it occurring in another group
The odds ratio is used for case-control studies and retrospective studies AND for the approximation the relative risk for small probabilities
Relative risk probability of Dz occurring in exposed group compared to unexposed. 2) Used in randomized controlled trials and cohort studies
Genome Wide association For identification of common variants in common/complex traits 2) involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease.
what is the problem with genome wide association problem is multiple comparison AND Billions of data points
How can Genome wide association be useful researchers can use the information to develop better strategies to detect, treat and prevent the disease. also pharmacogenetics and personalized medicine ex) asthma, cancer, diabetes
model for the implementation of related genetic testing in the market variability in dosing of warfarin attributed to genetic variants. The incorporation of genetic testing for these variants (i.e. those at risk) is the model
SNPS and Prostate Cancer for example_Odds ratios based on number of SNP risk factors and family history positive
Microbiome is that collection of microbes in/on you
Metagenome is the genomic content of you
Cohort study often undertaken to obtain evidence to try to refute the existence of a suspected association between cause and disease
A cohort is a group of people who share a common characteristic or experience within a defined period
The 2X2 table used to determine significance of risk and its magnitude (chi squared) by recording and analysing the relationship between two or more variables
Relative risk and Odds ratios are the same when the disease is rare in a population
clinical validity of a test important to consider in cohorts to determine if a test should become a clinical tool; describes both the positive and negative value for a test
Positive predictive value Fraction of people with risk variant who will develop disease
Negative predictive value Fraction of people without risk variant who will not develop disease
PPV is high for rare Mendelian disorders like cystic fibrosis
PPV is low for complex traits like diabetes
An allelic variant with a small RR/OR ratio may have substantial public health impact if allele is common. attributable fraction measures the impact (smoking cessation programs driven by estimates of their effect on disease prevalence)
Identifies many alleles associated with small (OR 1.1-1.5) risks for common complex traits Genome Wide association studies
environmental variables may be well defined for some.... disorders and have similar numerical risk profiles (OR)
By combining multiple alleles each with additive risk individual risk profiles can be developed so that a small number of persons can be identified as "at risk"
Direct to consumer testing and genetics commercial entities made tests available for common alleles associated with predisposition to common traits that include a genetic risk 2) use DNA chips 3) test for SNP variants
Created by: knpearso