Genotyping within the Oxytocin Receptor (OXTR) Gene and Apathy among Persons with Alzheimer’s Disease

Faculty Mentor(s)

Dr. Emile Dykstra Goris, Nursing

Document Type


Event Date



Apathy, defined as a disorder of motivation, is a prevalent neuropsychiatric symptom among persons with Alzheimer’s disease (AD). Variations within the Oxytocin Receptor (OXTR) Gene are hypothesized to be candidate modifiers of apathy symptoms in persons with AD. These variations are called single nucleotide polymorphisms (SNPs). The aim of this study was to amplify SNPs of interest in order to generate genotype data for 115 DNA samples collected from patients with AD. The allelic discrimination feature of real time polymerase chain reaction (RT-PCR) and primer-probe sets were used to amplify OXTR SNPs rs2268498, rs237885, rs237887, and rs237902. Genotype frequencies for each of the SNPs of interest were as follows: rs2268498 [22.6% (n=26) CC, 46.1% (n=53) CT, 23.5% (n=27) TT, 7.8% (n=9) Missing], rs237885 [21.7% (n=25) GG, 46.1% (n=53) GT, 27.0% (n=31) TT, 5.2% (n=6) Missing], rs237887 [28.7% (n=22) AA, 47.0% (n=54) AG, 18.3% (n=21) GG, 6.1% (n=7) Missing], and rs237902 [13.0% (n=15) AA, 42.6% (n=49) AG, 36.5% (n=42) GG, 7.8% (n=9) Missing]. Genotype data will be analyzed and compared to previously collected phenotype data, including apathy symptoms as measured by the Neuropsychiatric Inventory. Findings may contribute to identifying individuals with AD more at risk for apathy based on OXTR genotype.

This document is currently not available here.