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Epidemiology > Genetic Epidemiology > Flashcards

Genetic Epidemiology Flashcards

1
Q

What is genetic epidemiology?

A

Studies the influence if genes and environment on measures of health and disease susceptibility in populations.

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2
Q

What is the purpose of genetic epidemiology?

A

Uncover the role of genetic factors in determining health and disease through the detection of inheritance patterns.

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3
Q

What are the advantages of studying genetic epidemiology?

A

Genetic contribution

Risk estimates

Disease mechanism

Targets for intervention
Impacts of environment and lifestyle

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4
Q

What is a gene?

A

A portion of a DNA molecule (basic unit of hereditary?

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5
Q

How identical are unrelated human DNA?

A

99.9%

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6
Q

What is a genotype?

A

Combination of alleles at a locus

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7
Q

What is a haplotype?

A

Combination of alleles at different loci

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8
Q

What are regulatory sequences?

A

When, where and how much protein is made.

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9
Q

What types of SNPs are there?

A

Deletions, Inversions, Copy Number Variants and Short Tandem Repeats

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10
Q

What is the difference between a polymorphism and mutation?

A

Mutations are rare

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11
Q

What are the objectives of genetic epidemiology?

A

Establishing a genetic component

Size of genetic effect about other factors of disease risk

Finding responsible genes for component

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12
Q

What is the purpose of descriptive epidemiology?

A

Disease characteristics

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13
Q

What is the purpose of family aggregation studies?

A

Familial clustering, (clustering of certain traits, behaviours or disorders within a family)

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14
Q

What is the purpose of twin/adoption/half-sibling/migrant studies?

A

Genetic?

or

Enivironmental

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15
Q

What is the purpose of Segregation analysis?

A

Mode of inheritance

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16
Q

What is the purpose of linkage analysis?

A

Disease susceptibility loci

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17
Q

What is the purpose of association studies?

A

Disease susceptibility markers

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18
Q

In which order does classic research genetic epidemiology flow?

Draw it

A
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19
Q

What is the first step of familial aggregation studies?

A

Identification of hereditary disease

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20
Q

What is the general approach of familial aggregation studies?

A

To sample proband(s), and obtain their detailed family history of disease

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21
Q

What is proband in relations to genetics?

A

The patient or member of the family that brings a family under study

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22
Q

What is familial aggregation is measured by?

A

Relative recurrence risk (RRR) or Familial risk ratios (FRRs)

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23
Q

How to calculate relative recurrence risk?

A
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24
Q

What is KR?

A

The risk or probability of getting the disease to the relatives of type R

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25
Q

What is K?

A

Population risk

26
Q

What is R?

A

Relationship

27
Q

What does the value of λ mean?

A

The higher the value of λ the stronger the genetic effect

28
Q

What is the issue of familial aggregation studies?

A

Not sufficient to infer the importance of genetic susceptibility

29
Q

What is the purpose of twin studies?

A

Estimating heritability

Comparison of monozygotic and dizygotic twins

30
Q

What is heritability?

A

Proportion of the phenotypic variance accounted for by genetic factors

31
Q

What are monozygotic twin pairs?

A

Share all of their genes

32
Q

What are dizygotic twin pairs?

A

Share half of their genes in common

33
Q

What does the similarity between MZ and DZ twins mean?

A

The greater similarity in correlation or concordance of MZ twins than DZ twins is considered evidence of genetic factors

34
Q

What is cocordance?

A

Probability that a pair of individuals will both have a certain characteristics given that one of the pairs have the characteristics

35
Q

What does segregation analysis require?

A

Multigenerational family trees preferably with more than one affected member

36
Q

What are genetic linkage studies used for?

A

Associate functionality of genes to their location on chromosomes

37
Q

What are genetic association studies used for?

A

Find candidate genes or genome regions that contribute to a specific disease status and genetic variation

38
Q

What is linkage analysis?

A

A small set of large pedigrees each containing several affected individuals

Disease phenotype and alleles at one or more genotyped genetic marker loci

39
Q

What does linkage analysis test for?

A

Testing the hypothesis that a particular locus is linked to a locus that causes the disease

40
Q

What is co-segregation?

A

Alleles at markers that are physically close together tend to be transmitted together, this can be individual in families.

41
Q

What is the aim of genetic association analysis?

A

The aim is to determine whether a particular genetic variant influences risk of developing disease.

42
Q

How is association deemed present?

A

A particular allele will be seen more often than expected by chance in an individual carrying the trait

43
Q

What is association?

A

Statistical findings which usually require investigating the functional relationship

44
Q

What can genetic association analysis indicate?

A

Direct causal relationship

Indirect relationship

45
Q

What are the main types of genetic association study?

A

Family-based studies

Case/control studies

Total association studies

46
Q

What are family-based studies?

A

Investigate transmission of particular high risk alleles through a number of pedigrees

47
Q

What is the advantage of family-based studies?

A

Avoid problems of population heterogeneity

48
Q

What are case/control studies?

A

Compare the distribution of alleles or genotypes at a locus in affected individuals (controls) or a population -based control sample

49
Q

What are total association studies?

A

All individuals with quantitative trait

50
Q

What is the differences between linkage and association?

A

While linkage implies a physical connection on a chromosome, the association is based on observation of how variations in genes correlate with certain traits or conditions.

51
Q

What is genome-wide association studies (GWAS)?

A

The examination of many common genetic variants in a group of individuals to see if any variant is association with a trait

52
Q

What is linkage disequilibrium (LD)?

A

Corresponds to correlation between alleles at two or more loci.

53
Q

What is a haplotype?

A

Set of SNPs on a single chromatid of a chromosome pair that are statistically association

54
Q

What are haplotype blocks?

A

Sizable regions over which there is little evidence for historical recombination and within which only a few haplotypes are observed

55
Q

What does it mean is 2 SNPs are in strong linkage disequilibrium?

A

The genotype at SNP2 will be well-predicted by the genotype at SNP1

56
Q

What is tagging SNP?

A

A representative genetic variant that is used to capture the genetic variation in a region of interest.

57
Q

How are tagging SNP selected?

A

Due to linkage disequilibrium with other SNPs in that region,

58
Q

Why are tagging SNP important?

A

Simplifies the analysis of genetic association without testing each variant.

59
Q

What is mendelian randomization?

A

Investigating the casual relationship between an exposure and an outcome.

Relies on mendelian inheritance and the random assortment of genetic variants during gamete formation.

60
Q

What are the steps of mendelian randomization?

A
  1. Identification of genetic variants
  2. Random Allocation of genetic variants
  3. Association with outcome
  4. Casual inference
61
Q

When is mendelian randomization used?

A

Overcome some limitations of observational studies such as confounding and reverse causation.

62
Q
A

Epidemiology (18 decks)

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