Genetics of Inflammatory Disease Flashcards

1
Q

Definition of autoinflammatory

A

Abnormal activation of the innate immune system

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2
Q

Definition of autoimmune

A

Abnormal response leading the loss of immune tolerance against self tissues by presence of autoreactive T and B cells

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3
Q

Describe the spectrum of autoinflammatory and autoimmune diseases

A

AF

  • rare monogenic AF disease
  • polygenic AF disease (IBS)
  • mixed pattern diseases (psoriasis)
  • polygenic AI disease (SLE)
  • rare monogenic AI disease
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4
Q

Describe psoriasis

  • what is it characterised by
  • describe clinical presentation and triggers
  • what are the risk factors
A

Common, life long genetic AI skin disease

Characterised by areas of thick, red, scaly skin

  • v disorganised stratum corneum, infiltrated by neutrophils
  • stratum spinosum and basale filled with smaller immature cells

Huge variation in

  • clinical presentation
  • triggers=> leads to impaired differentiation and hyperproliferation of keratinocytes
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5
Q

Describe the properties of ulcerative colitis

A

Inflammation/ulcers only in the colon mucosa
Superficial inflammation
Continuous inflammation

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6
Q

Describe the properties of Crohn’s disease

A

Inflammation of all GI tract layers
Full thickness inflammation
Patchy inflammation

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7
Q

What are the risks associated with IBD

What are the causes of IBD

A

Extra intestinal manifestations
Cancer risk

Caused by

  • susceptibility genes
  • persistent infection
  • defective mucosal integrity
  • dysregulated immune response
  • dysbiosis
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8
Q

Describe the properties of Systemic Lupus Erythematosus

A

AI disease with unknown aetiology

Multisystemic disease involving autoantibody production

  • nuclear antigens
  • cellular antigens
  • cell surface antigens
  • serum components
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9
Q

What are the common properties shared by many AI, AF diseases

A

All have a variety of

  • prevalences
  • sex bias
  • ethnicities
  • age of onset
  • risk factors
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10
Q

Describe the relationship between susceptibility loci and complex diseases

A

Many loci can contribute to a disease
-many overlap and are associated with many complex diseases
Found with GWAS

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11
Q

What were the therapies used for autoimmune disease in the past

A

Limited clinical efficacy

  • non selective immunosuppresion
  • cytotoxic drugs
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12
Q

What are the properties of current biological therapies for AI diseases now

A

Have increased efficacy, faster onset

Expensive
Inadequate response
Some severe AE

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13
Q

What are the potential treatments for AI disease

A

Evidence from GWAS

  • indicate specific drug targets
  • likely responders

Companies could market 1 drug for many diseases due to overlap of susceptibility loci between diseases

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14
Q

What are the 3 potential applications of GWAS data in clinical scenarios

A

Drug development for different groups to reduce AE

Diagnostic test development

Devise prevention/non drug strategies

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