Exam 3 Main Points Flashcards
First successful GWA study
Age-related macular degeneration
Other successful GWA study
Chron’s disease
GWA and inflammatory bowel diseases
GWA only showed a small part of genetic variance in inflammatory bowel disease.
SLCO1B1
A variant of a chromosome associated with statin-induced myopathy.
Problems with GWAs
Etiology of genes questionable
Difficulty of finding relevant gene
Low penetrate
Identified region far away from actual gene.
Changes in _ rather than changes in _ underlie most GWA associations.
Changes in gene regulation rather than changes in proteins underlie most GWA associations.
CDRV
GWAs will not identify rare variants in most cases.
T1D and HLA - what form is the highest risk
D3/DR4. At least 1 allele present in 95% of patients with TD
T1D and VNTR (INS)
Short (26 - 63 repeats) predispose to T1D
Long (140 - 210 repeats) are protective of B cells.
Concordance of T1D
Concordance of 50% of monozygotic twins, environmental factors are important.
T2D and concordance
70%
Best predictor for T2D
Insulin resistance
TCF7L2
First important gene identified in T2D. Associated with impaired beta cell function, but not with insulin resistance.
T allele of rs7903146
Enhances expression of TCF7L2 -> impairs insulin secretion.
SLC30A8 (zinc transporter)
Confers T2D risk in addition to TCF7L2 gene.