Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene

Abstract We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of t...

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Published inJournal of neuropathology and experimental neurology Vol. 79; no. 1; pp. 3 - 21
Main Authors Katsumata, Yuriko, Fardo, David W, Bachstetter, Adam D, Artiushin, Sergey C, Wang, Wang-Xia, Wei, Angela, Brzezinski, Lena J, Nelson, Bela G, Huang, Qingwei, Abner, Erin L, Anderson, Sonya, Patel, Indumati, Shaw, Benjamin C, Price, Douglas A, Niedowicz, Dana M, Wilcock, Donna W, Jicha, Gregory A, Neltner, Janna H, Van Eldik, Linda J, Estus, Steven, Nelson, Peter T
Format Journal Article
LanguageEnglish
Published England Oxford University Press 01.01.2020
by American Association of Neuropathologists, Inc
Subjects
Adaptor Protein Complex 2 - genetics
Adaptor Protein Complex alpha Subunits - genetics
Aged
Aged, 80 and over
Alzheimer Disease - genetics
Alzheimer Disease - pathology
Autopsy
Cohort Studies
Female
Genome-Wide Association Study
Genotype
Humans
Male
Minisatellite Repeats
Mucin-6 - genetics
Neurofibrillary Tangles - genetics
Neurofibrillary Tangles - pathology
Original
Pathology
Polymorphism
Polymorphism, Genetic - genetics
Polymorphism, Single Nucleotide
TDP-43 Proteinopathies - genetics
TDP-43 Proteinopathies - pathology
Digital pathology
ScanScope
AP-2
GWAS
Whole-exome sequencing
ADSP
Online AccessGet full text

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Abstract Abstract We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6, AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.
AbstractList We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6, AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.
Abstract We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6, AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.
We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 ( MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 ( AP2A2 ). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat ( VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6 , AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.
We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6, AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: Adaptor Related Protein Complex 2 Subunit Alpha 2 (AP2A2). PCR analyses on genomic DNA samples confirmed that the size of the MUC6 variable number tandem repeat (VNTR) region was highly polymorphic. In a cohort of autopsied subjects with quantitative digital pathology data (n = 119), the size of the polymorphic region was associated with the severity of pTau pathology in neocortex. In a separate replication cohort of autopsied subjects (n = 173), more pTau pathology was again observed in subjects with longer VNTR regions (p = 0.031). Unlike MUC6, AP2A2 is highly expressed in human brain. AP2A2 expression was lower in a subset analysis of brain samples from persons with longer versus shorter VNTR regions (p = 0.014 normalizing with AP2B1 expression). Double-label immunofluorescence studies showed that AP2A2 protein often colocalized with neurofibrillary tangles in LOAD but was not colocalized with pTau proteinopathy in progressive supranuclear palsy, or with TDP-43 proteinopathy. In summary, polymorphism in a repeat-rich region near AP2A2 was associated with neocortical pTau proteinopathy (because of the unique repeats, prior genome-wide association studies were probably unable to detect this association), and AP2A2 was often colocalized with neurofibrillary tangles in LOAD.
Author Nelson, Peter T
Abner, Erin L
Niedowicz, Dana M
Bachstetter, Adam D
Anderson, Sonya
Jicha, Gregory A
Wei, Angela
Artiushin, Sergey C
Shaw, Benjamin C
Price, Douglas A
Estus, Steven
Fardo, David W
Neltner, Janna H
Katsumata, Yuriko
Wilcock, Donna W
Wang, Wang-Xia
Huang, Qingwei
Patel, Indumati
Van Eldik, Linda J
Brzezinski, Lena J
Nelson, Bela G
AuthorAffiliation Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  givenname: Indumati
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  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  surname: Price
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  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  fullname: Jicha, Gregory A
  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  givenname: Janna H
  surname: Neltner
  fullname: Neltner, Janna H
  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
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  givenname: Linda J
  surname: Van Eldik
  fullname: Van Eldik, Linda J
  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
– sequence: 20
  givenname: Steven
  surname: Estus
  fullname: Estus, Steven
  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
– sequence: 21
  givenname: Peter T
  surname: Nelson
  fullname: Nelson, Peter T
  email: peter.nelson@uky.edu
  organization: Sanders-Brown Center on Aging (YK, DWF, ADB, SCA, W-XW, AW, LJB, BGN, QH, ELA, SA, IP, DAP, DMN, DWW, GAJ, LJVE, PTN); Department of Biostatistics (YK, DWF); Spinal Cord & Brain Injury Research Center (ADB); Department of Neuroscience (ADB, DWW, LJVE); Department of Epidemiology (ELA); Department of Neurology (DWW, GAJ); Department of Physiology (BCS, SE); and Department of Pathology (W-XW, JHN, PTN), University of Kentucky, Lexington, Kentucky
BackLink https://www.ncbi.nlm.nih.gov/pubmed/31748784$$D View this record in MEDLINE/PubMed
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Issue 1
Keywords Digital pathology
ScanScope
AP-2
GWAS
Whole-exome sequencing
ADSP
Language English
License This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License(http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contactjournals.permissions@oup.com
http://creativecommons.org/licenses/by-nc/4.0
2019 American Association of Neuropathologists, Inc.
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content type line 14
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The authors have no duality or conflicts of interest to declare.
Funding included grants P30 AG028383, R01 AG057187, R01 AG042475, and U01 AG016976 from the National Institute on Aging (NIA)/National Institutes of Health (NIH). Please see the additional Acknowledgment section at the end of the Discussion section.
Supplementary Data can be found at academic.oup.com/jnen.
OpenAccessLink https://dx.doi.org/10.1093/jnen/nlz116
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Snippet Abstract We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream...
We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from...
We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic polymorphism within an exon of Mucin 6 ( MUC6) and immediately downstream from...
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SubjectTerms Adaptor Protein Complex 2 - genetics
Adaptor Protein Complex alpha Subunits - genetics
Aged
Aged, 80 and over
Alzheimer Disease - genetics
Alzheimer Disease - pathology
Autopsy
Cohort Studies
Female
Genome-Wide Association Study
Genotype
Humans
Male
Minisatellite Repeats
Mucin-6 - genetics
Neurofibrillary Tangles - genetics
Neurofibrillary Tangles - pathology
Original
Pathology
Polymorphism
Polymorphism, Genetic - genetics
Polymorphism, Single Nucleotide
TDP-43 Proteinopathies - genetics
TDP-43 Proteinopathies - pathology
Title Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene
URI https://www.ncbi.nlm.nih.gov/pubmed/31748784
https://www.proquest.com/docview/2502933152
https://www.proquest.com/docview/2316784107
https://pubmed.ncbi.nlm.nih.gov/PMC8204704
Volume 79
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