GEN: Genetics of inflammation Flashcards
what are 2 types of inflammatory bowel diseases IBD?
- ulcerative colitis - mucosa of colon
- crohn’s disease - all GI tract layers (iletis, ileocolitis, colitis)
what are disease symptoms for both ulcerative colitis and crohn’s disease?
- arthritis (joint inflammation)
- erythema nodosum, pyoderma gangrenosum (skin inflammation)
- iridocyclitis (eye inflammation)
- cholostatic liver diseases (liver inflammation); primary sclerosing cholangitis
what are differences between ulcerative colitis and crohn’s disease??
what are the four etiological causes for IPD? what does each cause involve?
- persistent infections
- defective mucosal integrity
- dysbiosis
- dysregulated immune response
each cause invovles microbial action
what is Psoriasis?
- life-long genetic autoimmune skin disease
- characterised by well circumscribed areas of thick, red, scaly skin
what are the triggers of psoriasis?
- infections - streptococcal, viral
- skin trauma - koebner phenomenon
- psychological stress
- drugs - beta blockers, lithium
- sunburn
- metabolic factors - calcium deficiency
- hormonal factors - pregnancy
- unknown skin antigens stimulating immune response
ALL TRIGGERS LEAD TO IMPAIRED DIFFERENTIATION AND HYPERPROLIFERATION OF KERATINOCYTES
how does psoriasis happen?
t-helper lymphocytes become hyperactive ⇒ produce excess cytokines (TFN, IL2, interferon gamma) ⇒ inflammation triggered ⇒
- widened blood vessels
- WBC accumulation
- rapid keratinocyte multiplication
what is Systematic Lupus Erthymatosus SLE?
- autoimmune
- unknown aetiology
- chronic, inflammatory, multi-system disease
- skin, joints, kidneys, CNS involvement
are risk factors shared between different autoimmune diseases?
yes
how are disease risk factors found?
designing GWAS looking for genetic variants in cases vs controls that chips read and calculate p values, all info gathered on Manhattan Plot
