10.6084/m9.figshare.4770412.v1
Sillén A.
Sillén
A.
Brohede J.
Brohede
J.
Forsell C.
Forsell
C.
Lilius L.
Lilius
L.
Andrade J.
Andrade
J.
Odeberg J.
Odeberg
J.
Kimura T.
Kimura
T.
Winblad B.
Winblad
B.
Graff C.
Graff
C.
Supplementary Material for: Linkage Analysis of Autopsy-Confirmed Familial Alzheimer Disease Supports an Alzheimer Disease Locus in 8q24
Karger Publishers
2017
Association study
Alzheimer disease
Chromosome 8
Genome scan
Linkage analysis
2017-03-21 13:29:43
Dataset
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Linkage_Analysis_of_Autopsy-Confirmed_Familial_Alzheimer_Disease_Supports_an_Alzheimer_Disease_Locus_in_8q24/4770412
<p><i>Background/Aims:</i> We have previously reported the results of an
extended genome-wide scan of Swedish Alzheimer disease (AD)-affected
families; in this paper, we analyzed a subset of these families with
autopsy-confirmed AD. <i>Methods:</i> We report the fine-mapping, using
both microsatellite markers and single-nucleotide polymorphisms (SNPs),
in the observed maximum logarithm of the odds (LOD)-2 unit (LOD<sub>max</sub>-2)
region under the identified linkage peak, linkage analysis of the
fine-mapping data with additionally analyzed pedigrees, and association
analysis of SNPs selected from candidate genes in the linked interval.
The subset was made on the criterion of at least one autopsy-confirmed
AD case per family, resulting in 24 families. <i>Results:</i> Linkage
analysis of a family subset having at least one autopsy-confirmed AD
case showed a significant nonparametric single-point LOD score of 4.4 in
8q24. Fine-mapping under the linkage peak with 10 microsatellite
markers yielded an increase in the multipoint (mpt) LOD score from 2.1
to 3.0. SNP genotyping was performed on 21 selected candidate
transcripts of the LOD<sub>max</sub>-2 region. Both family-based
association and linkage analysis were performed on extended material
from 30 families, resulting in a suggestive linkage at peak marker
rs6577853 (mpt LOD score = 2.4). <i>Conclusion:</i> The 8q24 region has been implicated to be involved in AD etiology.</p>