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Published on: November 14, 2017
A LRPAP1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease
Debra L Schutte1, Meridean Maas, Kathleen C Buckwalter
1The University of Iowa College of Nursing, Iowa City 52242, USA. debra-schutte@uiowa.edu
Genetic variations in the Low Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene may influence Alzheimer disease (AD) progression. LRPAP1 insertion-positive individuals showed poorer language and greater functional impairment in AD patients.
Area of Science:
- Neuroscience
- Genetics
- Alzheimer's Disease Research
Background:
- Alzheimer disease (AD) is a neurodegenerative disorder causing dementia, with significant variability in onset, progression, and symptoms.
- Genetic factors are increasingly recognized as key modulators of AD phenotypic expression.
- The Low Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene is a candidate for influencing AD variability.
Purpose of the Study:
- To investigate the association between a specific LRPAP1 gene polymorphism and cognitive, functional, and behavioral outcomes in AD patients.
- To explore how genetic variations in LRPAP1 impact the diverse clinical presentation of Alzheimer disease.
Main Methods:
- Genotyping of a 37 basepair insertion/deletion polymorphism in intron 5 of the LRPAP1 gene in 37 AD subjects.
- Analysis of repeated measures of cognition, function, and behavior using data from caregiver intervention studies.
- Statistical comparison of outcomes between LRPAP1 insertion-positive and insertion-negative AD patient groups.
Main Results:
- No significant differences in LRPAP1 allele or genotype frequencies were found based on gender or age at AD onset.
- While no statistically significant genotype effects on overall cognition or behavior were identified, trends suggested poorer language scores in insertion-positive subjects (p = .158).
- LRPAP1 insertion-positive subjects demonstrated significantly greater functional impairment compared to those without the insertion (p = .030).
Conclusions:
- Genetic variations within the LRPAP1 gene locus may play a role in modulating the phenotype of Alzheimer disease.
- These findings suggest LRPAP1 genotype influences aspects of AD beyond just disease risk, potentially affecting functional and language outcomes.
- Further research into LRPAP1's role could offer insights into personalized treatment strategies for AD based on genetic profiles.
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