Test Details
KLOTHO Genotype Test
The KLOTHO or KL gene codes for the α form of the KLOTHO protein that plays an important role in maintaining cognitive function in the brain. Subjects carrying the T/G genotype have been shown to be protected from the dementia risk associated with the APOE4 genotype.
Methodology
Real time polymerase chain reaction (PCR)
Patient Preparation
None
Preferred Specimen
1.0 mL whole blood collected in EDTA (Lavender Top)
Alternate Specimen
- Buccal swab
- Dried Blood collected on an AdvanceDx 100 card
Transport Temperature
Refrigerated (ship on frozen cold packs)
Stability
Refrigerated: 15 days
Lab Values
KLOTHO Genotype Test
- T/T
- T/G
- G/G
Clinical Significance
KLOTHO Genotype Test
The KLOTHO or KL gene codes for the α form of the KLOTHO protein that plays an important role in maintaining cognitive function in the brain (1). The KL-VS variant rs9536314 causes an amino acid substitution in the protein (F352V, an amino acid change from phenylalanine to valine at position 352 in the amino acid sequence) which affects the function of the KL protein and its interaction with the apoE protein (1). About 77% of the population has the common T/T genotype without this variant, about 20% of the population has the T/G genotype, and about 3% of the population has the G/G genotype (1). Subjects carrying the T/G genotype have been shown to be protected from the dementia risk associated with the APOE4 genotype (1).
References:
- Belloy ME, Napolioni V, Han SS, Le Guen Y, Greicius MD; Alzheimer’s Disease Neuroimaging Initiative. Association of Klotho-VS heterozygosity with risk of Alzheimer disease in individuals who carry APOE4. JAMA Neurol. 2020 Jul 1;77(7):849-862. doi: 10.1001/jamaneurol.2020.0414. PMID: 32282020; PMCID: PMC7154955.
Treatment Options
KLOTHO Genotype Test
None
