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20 Cards in this Set

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Histone acetylation allows or represses gene transcription?
Histone Acetylation ALLOWS gene transcription.
Histone decactylation allows or represses gene transcription?
Histone Deacetylation Deactivates gene transcription.
What is the definition of epigenetics?
Changes in gene function that occur without a change in the sequence of a gene.

What are 2 examples of epigenetic modification of the genome?
DNA methylation

Histone modification
What 2 conditions are associated with SNP changes of the filaggrin gene?
Atopic dermatitis
Asthma
What condition is associated with SNP changes of the ORMDL3 protein?
Asthma
What is the function of the filaggrin protein?
Epidermal barrier function.
What chromosome is the filaggrin gene located?
Chromosome 1
What percentage of patients with severe atopic dermatitis have SNP changes at at least 1 gene of the filaggrin gene?
50%
What clinical changes are associated with SNP of CD14?
Both increased and decreased risk of asthma/atopy.

What is CD14?
Lipopolysaccharide co-receptor (with TLR 4)
What clinical changes are associated with SNP of CCR5?
Protects against nonatopic asthma,
What clinical changes are associated with SNPs of TLR7 and TLR 8?
Increased risk of asthma, rhinitis, atopic dermatitis and specific IgE
What clinical changes are associated with SNP of IL-13
Increased risk of asthma, bronchial hyperresponsiveness, skin-test responsiveness, response to montelukast
What clinical changes are associated with SNP of beta-2-adrenergic receptor?
Associated with decreased albuterol response compared to gly/gly phenotype
What clinical changes are associated with SNP of ADAM33?
Increased risk of asthma and bronchial hyperresponsiveness.
What relevant protein is associated with 17q12-21?
ORMDL3.

What clinical association?
Asthma
What relevant protein is associated with 5q22-32?
CD14

Function?
Clincal relevance?
LPS coreceptor

Increased and decrased asthma risk associated with SNP's
What relevant protein is associated with 3p21-22?
CCR5

Function?
Clinical relevance?
Chemokine receptor

SNP protects against nonatopic asthma
What relevant protein is associated with Xp22?
TLR7 and 8

Function?
Clinical relevance?
Pattern recognition for viral ssRNA

SNP confers increased risk for asthma, rhinitis, atopic dermatitis, increased specific IgE
What relevant protein is associated with 5q31?
IL-13

Function?
Clinical relevance?
Cytokine associated with increased IgE secretion, mucous production, collagen synthesis.

SNP associated with increased risk of asthma, BHR, + skin tests, montelukast response
What relevant protein is associated with ADRB2?
beta-2-adrenergic receptor

Arg phenotype with decrased albuterol response