If the ARMD and PGx variants were also considered, each individual carried 15.3
risk alleles on average.
Not exact matches
Individuals were classified as high
risk for Alzheimer's if a DNA test identified the presence of a genetic marker — having one or both of the apolipoprotein E-epsilon 4
allele (APOE - e4
allele)
on chromosome 19 — which increases the
risk of developing the disease.
Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some
alleles (one of a pair of genes located
on a specific chromosome) are more frequently
risk - associated with disease than protective.
The research by scientists at Children's Hospital Los Angeles and Columbia University shows a link between a particular
allele for serotonin found at a higher frequency in those at
risk of depression because of family history, and those who go
on to develop major depressive disorder.
Around the world, innovative genomic - medicine programs capitalize
on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected
risk alleles or disease burdens.
The impact of a common
risk allele with disease
risk is often modest, as is its impact
on clinical care.
Polymorphisms in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease
risk, and in three genes, the
risk allele, haplotype, or both had a biologically consistent effect
on a relevant physiological trait in the QT study.
11 ApoE4 heterozygotes (people with one
allele) have a five-fold increased
risk of developing AD, and homozygotes (two
alleles) are estimated to have a staggering lifetime
risk between 50 - 90 percent.12 Despite this seemingly damning genetic heritage, the ApoE4
allele is neither required nor sufficient for development of AD, as 50 percent of people with AD are not carriers, and some E4 homozygotes never develop the disease.13
On the other hand, the other known
risk factor — hyperinsulinism — elevates
risk by 43 percent independently of ApoE status.
Advice
on how to make best use of the DNA test for IG - PRA1 needs to account for the possibility that the disease may be inherited in an ADIP manner and that the presence of a single copy of the
risk allele may cause PRA in some Italian Greyhounds.
OptiGen is able to provide updates
on the actual frequency of the
risk allele in the population as more widespread testing of the breed occurs.
The associated
alleles were common in the studied populations and all had only small effects
on disease
risk [123].