Pharmacogenetics is study of inherited genetics difference sameness( difference, sameness ) in drug metabolic pharmacokinectic( metabolic, pharmacokinectic ) pathways which can affect individual ethnic group's( individual, ethnic group's ) responses to drugs, both in terms of therapeutic effect as well as adverse effects
Nearly 90% 80% 70%( 90%, 80%, 70% ) of general population have CYP2D6 functional duplication allele o 10% 20% 5%( 10%, 20%, 5% ) has inactive copies of CYP2D6 = codeine has no analgesic effect o 2-5% 5-10% 10-15%( 2-5%, 5-10%, 10-15% ) ultrarapid metabolizer
Codeine is metabolized by an enzyme that is genetically regulated called CYP2D6 in the liver that turns codeine into morphine
CYP2D6 is responsible for the metabolism of which drugs
Analgesics
BB
CCB
Antidepressants
Antispsychotics
The CYP2C19 metabolizes which drugs
Plavix (clopidogrel)
Coumadin (warfarin)
Dabigatran (Pradaxa)
Apixaban (Eliquis)
GeneSight Tests for
ADHD
Analgesic
MTHFR
Psychotropic
Anticoagulants
Genotype is
genetic constitution, alleles present at one locus
manifestation of genes
phenotypic differences
proportion of heterozygous population expressing the phenotype
Phenotype is:
manifestation of genotype
phenotypic differences in same genotype
Variable expressivity is
Penetrance is
Autosomal dominant inheritance
Required one copy of gene mutation to express the associated condition
Phenotype is expressed in person heterozygous for a particular allele
Requires two copies of gene mutation (one from each parent) to manifest the condition
Phenotypes is expressed in person homozygous for a particular allele
Autosomal recessive:
Requires one copy of gene mutation to express the associated condition
Breast cancer is 5 - 10% 0 - 5% 10 - 15% 15 - 20 %( 5 - 10%, 0 - 5%, 10 - 15%, 15 - 20 % ) hereditary
Which a mutation in which BRCA gene has a 40% lifetime risk for ovarian cancer
BRCA-1
BRCA - 2
Tamoxifen is metabolized by
CYP2D6
CYP2CI9
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin
Amsterdam II criteria for HNPCC/Lynch Syndrome includes 3 relatives with CRC (colorectal cancer) and other HNPCC cancer in the family. Select the HNPCC cancers:
Hepatic
Colon
Endometrium
Small bowen
Pancreatic
Renal pelvis
Pharmacogenetics is the study of _________
germline mutations
x-linked mutations
autosomal dominant mutations
autosomal recessive mutations
