Complex Traits Flashcards

1
Q

What are complex traits?

A

The phenotypic variation that arises from a combination of genes

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2
Q

What is the difference between complex & simple traits?

A

Monogenic traits–>1 major gene that contributes to the Phenotype
Polygenic traits–> Several loci

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3
Q

How is stature considered a polygenic trait?

A

-influenced by 80-90% genetic variation
-single nucleotide change in the HMGA2 gene
-20 loci that influence adult height

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4
Q

Polygenic vs pleiotropy

A

polygenic–> many genes contribute to a single effect
pleiotropy–> A gene has multiple effect

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5
Q

The formula for variation between people is due to
genetic differences between them and how much is due to them experiencing different environments

A

Variance(phenotype) = Variance(genetics) + Variance(environment)

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6
Q

Heritability formula

A

H = VarG / VarP = VG / VP
= VG/VG + VE

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7
Q

What is H in the heritability formula?

A

The proportion of the phenotypic variation in a population that is attributable to genetic variation among individuals

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8
Q

What does this graph show?

A

The closer to one means that the impact of genetic variation is higher on the phenotype Vg.

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9
Q

Measuring heritability

A

H= correlation between relatives(eg. height)/coefficient of relationship(0.5 between parent & child)

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10
Q

Complications of heritability

A

-H is not constant, varying in space & time
-Assortative mating overestimates H
-shared environment can overestimate H
-Genotype-Environment interaction

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11
Q

Identify the model and explain what is demonstrates

A

Polygenic Inheritance model, each gene has a small effect which cannot be identified by observing the phenotype

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12
Q

How does assortative mating affect genotype frequency

A

-lead to an overestimate of H
-can cause deleterious biological consequences, increasing homozygote

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13
Q

Coefficient of inbreeding(F)

A

-probability an individual has 2 genes at a locus that are identical by descent
F = 1/2 (r) of parents, r is the coefficient of parent

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14
Q

How is the r value calculated?

A

r=(1/2)^steps btw the pair

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14
Q

How is the r value calculated?

A

r=(1/2)^steps btw the pair

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15
Q

Developmental or time-dependent expression

A

gene has its most pronounced effect at a certain time or developmental stage eg puberty

16
Q

The general ageing of the system

A

either through programmatic senescence or general wear & tear

17
Q

How to identify variation within complex traits

A

Linkage–>
-seeks to identify chromosomal segments shared by affected members
-result in large candidate regions
Association–>
-measures preferential segregation of a particular allele with a phenotype across families
-small candidate regions

18
Q

How do Genome-wide association studies work

A

-Test 500k to 1M SNPs across the genome
-test whether a particular allele occurs at higher/lower frequency among affected among unaffected
-involve population correlation

19
Q

What can GWAS data be used for?

A

used to predict susceptibility to complex diseases based on your genome

20
Q

What is the issue with rare variants?

A

Hard to replicate in big populations