A Low Density Lipoprotein Receptor Related Protein-Associated Protein 1 Del/Ins Polymorphism and Phenotypic Variability in Alzheimer Disease

2.50
Hdl Handle:
http://hdl.handle.net/10755/161605
Type:
Presentation
Title:
A Low Density Lipoprotein Receptor Related Protein-Associated Protein 1 Del/Ins Polymorphism and Phenotypic Variability in Alzheimer Disease
Abstract:
A Low Density Lipoprotein Receptor Related Protein-Associated Protein 1 Del/Ins Polymorphism and Phenotypic Variability in Alzheimer Disease
Conference Sponsor:Midwest Nursing Research Society
Conference Year:2002
Author:Schutte, Debra, PhD
P.I. Institution Name:University of Iowa
Title:Assistant Professor
Contact Address:College of Nursing, 101F Nursing Building, Iowa City, IA, 52242, USA
Contact Telephone:319.384.4700
Alzheimer's disease (AD) is a neurodegenerative disorder, characterized by dementia. AD exhibits individual variability in age at onset, rate of progression, and specific cognitive, functional, and behavioral features. Genetic variants are potential modulators of phenotypic variability. The purpose of this study was to explore the relationship between variations within six candidate susceptibility loci, including the Low-Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene (4p16.3), and repeated measures of cognition, function, and behavior in persons with AD, using outcome data collected in two caregiver intervention studies. Thirty-seven subjects diagnosed with probable or possible AD, who participated in either the Family Involvement in Care Study (PI: Maas) or the Progressively Lowered Stress Threshold Study (PI: Buckwalter), were recruited. Subjects exhibited a mean age at onset of 68.7 years (S.D.=9.08); 92% of the sample were Caucasian. The results of the LRPAP1 analyses are reported here. All subjects were genotyped for a 37bp del/ins polymorphism in intron 5 of the LRPAP1 gene. No differences in allele or genotype frequencies by gender or by age at onset were identified. No statistically significant genotype effects upon cognition or behavior were identified. However, trends were noted in measures of memory and language. The LRPAP1 ins-positive subjects exhibited poorer memory scores (average score difference=8%, p=.103) and poorer language scores (average score difference=28%, p=.158). LRPAP1 ins-positive subjects were significantly more functionally impaired than subjects without the LRPAP1 insertion allele (F1,7=7.36, p=.030). These results suggest genetic variations at the LRPAP1 locus modulate AD phenotype beyond risk for disease. Potential genotype-phenotype relationships were identified that require analyses with a larger sample representing the full AD phenotype trajectory.
Repository Posting Date:
26-Oct-2011
Date of Publication:
17-Oct-2011
Sponsors:
Midwest Nursing Research Society

Full metadata record

DC FieldValue Language
dc.typePresentationen_GB
dc.titleA Low Density Lipoprotein Receptor Related Protein-Associated Protein 1 Del/Ins Polymorphism and Phenotypic Variability in Alzheimer Diseaseen_GB
dc.identifier.urihttp://hdl.handle.net/10755/161605-
dc.description.abstract<table><tr><td colspan="2" class="item-title">A Low Density Lipoprotein Receptor Related Protein-Associated Protein 1 Del/Ins Polymorphism and Phenotypic Variability in Alzheimer Disease</td></tr><tr class="item-sponsor"><td class="label">Conference Sponsor:</td><td class="value">Midwest Nursing Research Society</td></tr><tr class="item-year"><td class="label">Conference Year:</td><td class="value">2002</td></tr><tr class="item-author"><td class="label">Author:</td><td class="value">Schutte, Debra, PhD</td></tr><tr class="item-institute"><td class="label">P.I. Institution Name:</td><td class="value">University of Iowa</td></tr><tr class="item-author-title"><td class="label">Title:</td><td class="value">Assistant Professor</td></tr><tr class="item-address"><td class="label">Contact Address:</td><td class="value">College of Nursing, 101F Nursing Building, Iowa City, IA, 52242, USA</td></tr><tr class="item-phone"><td class="label">Contact Telephone:</td><td class="value">319.384.4700</td></tr><tr class="item-email"><td class="label">Email:</td><td class="value">debra-schutte@uiowa.edu</td></tr><tr><td colspan="2" class="item-abstract">Alzheimer's disease (AD) is a neurodegenerative disorder, characterized by dementia. AD exhibits individual variability in age at onset, rate of progression, and specific cognitive, functional, and behavioral features. Genetic variants are potential modulators of phenotypic variability. The purpose of this study was to explore the relationship between variations within six candidate susceptibility loci, including the Low-Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene (4p16.3), and repeated measures of cognition, function, and behavior in persons with AD, using outcome data collected in two caregiver intervention studies. Thirty-seven subjects diagnosed with probable or possible AD, who participated in either the Family Involvement in Care Study (PI: Maas) or the Progressively Lowered Stress Threshold Study (PI: Buckwalter), were recruited. Subjects exhibited a mean age at onset of 68.7 years (S.D.=9.08); 92% of the sample were Caucasian. The results of the LRPAP1 analyses are reported here. All subjects were genotyped for a 37bp del/ins polymorphism in intron 5 of the LRPAP1 gene. No differences in allele or genotype frequencies by gender or by age at onset were identified. No statistically significant genotype effects upon cognition or behavior were identified. However, trends were noted in measures of memory and language. The LRPAP1 ins-positive subjects exhibited poorer memory scores (average score difference=8%, p=.103) and poorer language scores (average score difference=28%, p=.158). LRPAP1 ins-positive subjects were significantly more functionally impaired than subjects without the LRPAP1 insertion allele (F1,7=7.36, p=.030). These results suggest genetic variations at the LRPAP1 locus modulate AD phenotype beyond risk for disease. Potential genotype-phenotype relationships were identified that require analyses with a larger sample representing the full AD phenotype trajectory.</td></tr></table>en_GB
dc.date.available2011-10-26T23:24:08Z-
dc.date.issued2011-10-17en_GB
dc.date.accessioned2011-10-26T23:24:08Z-
dc.description.sponsorshipMidwest Nursing Research Societyen_GB
All Items in this repository are protected by copyright, with all rights reserved, unless otherwise indicated.