AmpliSNiP Dementia Screening Panel (qPCR)
SNP27
The aging society presents us with challenges related to the diagnosis and therapy of dementia-related diseases. In Poland, approximately 500,000 people suffer from dementia, including 300,000 individuals with Alzheimer’s disease. Moreover, it is estimated that the number of patients will double in the next 20-25 years. Currently, only 15-20% of patients are correctly diagnosed and treated. Both the effectiveness and complications of therapies depend significantly on the genetic background. Women account for two-thirds of Alzheimer’s disease patients. Approximately 1 in 6 women over the age of 65 develop Alzheimer’s compared to 1 in 11 men.
Pharmacotherapy
Complex nature of dementia-related diseases and the lack of effective therapeutic schemes result in medications aimed at symptomatic relief or stabilization of cognitive decline over periods ranging from several months to several years. The main goal of pharmacotherapy for dementia-related diseases is to increase cholinergic transmission in the brain, offering the potential to halt cognitive decline. Optimizing drug doses and adjusting treatment regimens based on knowledge of the individual metabolic abilities of each patient allows for better therapeutic outcomes and reduces the risk of adverse effects. This applies not only to the use of acetylcholinesterase inhibitors and memantine but also to other medications that patients must take for accompanying symptoms of associated conditions.
Diagnostic test AmpliSNiP Dementia Screening Panel (qPCR) kit enables the analysis of 37 polymorphisms that influence the risk of dementia, including Alzheimer’s disease, as well as the rate of drug metabolism used to alleviate symptoms and/or slowing the progression of dementia.
AmpliSNiP Dementia Screening Panel (qPCR) kit contains 74 qPCR reaction setups allowing for the analysis of individual polymorphisms within the human genes under examination (two setups for each polymorphism analyzed). The kit includes a 96-well plate, where the analysis of individual allelic variants of the studied polymorphisms is conducted in separate wells of the multi-well plate. The qPCR reaction is duplex. Detection of individual variants is performed on the FAM channel, whereas the second channel (HEX) is used for the detection of human DNA.
Table below lists all the polymorphisms and their allelic variants that are subjected to analysis.
Gene | Polymorphism | Allelic variant |
ABCA1 | rs2230806 | A>G |
ABCA1 | rs2422493 | T>C |
ABCA7 | rs4147929 | A>G |
ABCA7 | rs3764650 | T>G |
ABCA7 | rs3752246 | G>C |
ABCB1 | rs1128503 | T>C |
ABCB1 | rs1045642 | T>C |
ABCB1 | rs2032582 | G>T>A |
APOE | rs7412 | T>C |
APOE | rs429358 | T>C |
APP | rs438031 | T>C |
APP | rs463946 | G>C |
APP | rs63750847 | G>A |
BIN1 | rs744373 | T>C |
CHAT | rs2177370 | T>C |
CHAT | rs3793790 | G>A |
CYP2C8 | rs1058930 | G>C |
CYP2C8 | rs11572080 | G>A |
CYP2C8 | rs10509681 | T>C |
Gene | Polymorphism | Allelic variant |
CYP2C9 | rs1057910 | A>C |
CYP2C9 | rs1799853 | C>T |
CYP2C19 | rs12248560 | C>T |
CYP2D6 | rs1065852 | C>T |
CYP2D6 | rs5030655 | T>delT |
CYP2D6 | rs35742686 | A>delA |
CYP3A4 | rs2740574 | A>G |
CYP46A1 | rs754203 | C>T |
LRP1 | rs1799986 | C>T |
NAT1 | rs1057126 | T>A |
NAT1 | rs15561 | C>A |
NAT2 | rs1799929 | C>T |
NAT2 | rs1799930 | G>A |
NAT2 | rs1799931 | G>A |
PICALM | rs541458 | C>T |
PICALM | rs3851179 | A>G |
PSEN1 | rs17125721 | A>G |
TOMM40 | rs2075650 | A>G |