Chapter 7 Multiple choice questions

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What is a polygenic risk score? Select all correct answers.

A score created by adding up the effects attributable to loci identified in a genome wide association study correct incorrect

A score that can be used to predict the probability of disease, using only genotypes correct incorrect

A way of estimating the heritability of a disease from genotypes correct incorrect

A method that uses genotypes to estimate the genetic correlation between two traits or disease correct incorrect

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What have polygenic risk scores demonstrated about the genetics of schizophrenia? Select all correct answers.

The scores show that the heritability of schizophrenia is about 80% correct incorrect

The scores show that schizophrenia has a polygenic architecture correct incorrect

The scores show that some of the genetic variants that increase the risk for schizophrenia also increase the risk of bipolar disorder correct incorrect

Polygenic risk scores estimated from a GWAS of schizophrenia in one ethnic group will work equally well in predicting schizophrenia in a different ethnic group correct incorrect

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What has GWAS shown about the genetics of schizophrenia? Select all correct answers.

Over 230 risk loci have been identified correct incorrect

More than 100 genes have been identified correct incorrect

Each locus makes a very small contribution to the total heritability correct incorrect

Almost all the risk loci lie in non-coding regions of the genome correct incorrect

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How can heritability be estimated from a GWAS? Select all correct answers.

Heritability can be only estimated when the GWAS participants are relatives correct incorrect

Heritability can be estimated in unrelated individuals by using SNP information to identify the proportion of the genome that is shared by those with a disease correct incorrect

Heritability can be estimated from a linkage disequilibrium score (which measures the extent to which a genetic marker is in linkage disequilibrium with its neighbors) regressed on association statistics correct incorrect

Heritability can be estimated from either the genotypes or the summary statistics of a GWAS correct incorrect

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What have SNP based heritability methods told us about the genetic basis of schizophrenia? Select all correct answers.

SNP based heritability estimates are about half those estimated by twin studies correct incorrect

SNP based heritability demonstrates genetic correlation between schizophrenia and other psychiatric disorders correct incorrect

SNP based heritability shows that the genetic variants that contribute to schizophrenia are concentrated in DNA sequence that is conserved in mammals correct incorrect

SNP based heritability indicates that epigenetics makes only a minor contribution to the genetic risk for schizophrenia correct incorrect

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What is the missing heritability problem in schizophrenia? Select correct answer.

It is the difference between SNP based heritability and twin based heritability correct incorrect

It is the gap between the contribution of genome-wide significant variants and twin based heritability correct incorrect

It represents the failure of family based methods to assess heritability accurately correct incorrect

It describes the difference between molecular and family based assessments of heritability correct incorrect

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What do we know about the contribution of copy number variants (CNVs) to the risk of developing schizophrenia? Select all correct answers.

There are more CNVs in the genomes of schizophrenia cases compared to controls correct incorrect

On average each CNV has a smaller effect on the risk of schizophrenia than a SNP correct incorrect

The frequency of CNVs is very low correct incorrect

The genetic risk for schizophrenia is the sum of that derived from common variants and CNVs correct incorrect

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What do we know about the contribution of variants in coding regions to the risk of schizophrenia? Select all correct answers.

Coding variants are a common cause of schizophrenia correct incorrect

The discovery of an enrichment of exonic variants in cases of schizophrenia quickly led to the identification of genes involved in schizophrenia correct incorrect

Coding variants can be found by next generation sequencing correct incorrect

The exomes of cases of schizophrenia carry more variants than the exomes of controls correct incorrect

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How many genes cause schizophrenia? Select correct answer.

Only a handful correct incorrect

100 genes correct incorrect

About 500 genes correct incorrect

More than 1,000 genes correct incorrect

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What has our understanding of the genetic basis of schizophrenia told us about the biology of the disorder? Select all correct answers.

We have identified a small number of genes whose functional involvement is still not clear correct incorrect

One gene, called C4, on chromosome 6 contributes to changes in neuronal structure and function correct incorrect

We have found a set of clearly defined functional pathways correct incorrect

Hypotheses about the involvement of neurotransmitters have been confirmed correct incorrect