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Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.
Monday,2019-03-11 13:47 America/Los_Angeles — ecterry
| Title | Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Katsumata, Y, Nelson, PT, Estus, S, Fardo, DW |
| Corporate/Institutional Authors | Alzheimer's Disease Neuroimaging Initiative (ADNI) |
| Journal | Neurobiol Aging |
| Volume | 74 |
| Pagination | 135-146 |
| Date Published | 2019 Feb |
| ISSN | 1558-1497 |
| Abstract | <p>The International Genomics of Alzheimer's Project (IGAP) is a consortium for characterizing the genetic landscape of Alzheimer's disease (AD). The identified and/or confirmed 19 single-nucleotide polymorphisms (SNPs) associated with AD are located on non-coding DNA regions, and their functional impacts on AD are as yet poorly understood. We evaluated the roles of the IGAP SNPs by integrating data from many resources, based on whether the IGAP SNP was (1) a proxy for a coding SNP or (2) associated with altered mRNA transcript levels. For (1), we confirmed that 12 AD-associated coding common SNPs and five nonsynonymous rare variants are in linkage disequilibrium with the IGAP SNPs. For (2), the IGAP SNPs in CELF1 and MS4A6A were associated with expression of their neighboring genes, MYBPC3 and MS4A6A, respectively, in blood. The IGAP SNP in DSG2 was an expression quantitative trait loci (eQTL) for DLGAP1 and NETO1 in the human frontal cortex. The IGAP SNPs in ABCA7, CD2AP, and CD33 each acted as eQTL for AD-associated genes in brain. Our approach for identifying proxies and examining eQTL highlighted potentially impactful, novel gene regulatory phenomena pertinent to the AD phenotype.</p> |
| DOI | 10.1016/j.neurobiolaging.2018.10.017 |
| Alternate Journal | Neurobiol. Aging |
| PubMed ID | 30448613 |
| PubMed Central ID | PMC6331247 |
| Grant List | P30 AG013854 / AG / NIA NIH HHS / United States UL1 TR000117 / TR / NCATS NIH HHS / United States HHSN268201100012C / HL / NHLBI NIH HHS / United States P50 MH060451 / MH / NIMH NIH HHS / United States RC2 HL102419 / HL / NHLBI NIH HHS / United States UL1 TR001445 / TR / NCATS NIH HHS / United States HHSN268201100009I / HL / NHLBI NIH HHS / United States R01 AG022374 / AG / NIA NIH HHS / United States P30 AG010124 / AG / NIA NIH HHS / United States P50 AG023501 / AG / NIA NIH HHS / United States U01 HG006375 / HG / NHGRI NIH HHS / United States U01 HL096812 / HL / NHLBI NIH HHS / United States K25 AG043546 / AG / NIA NIH HHS / United States U54 AG052427 / AG / NIA NIH HHS / United States R01 NS017950 / NS / NINDS NIH HHS / United States RC2 AG036528 / AG / NIA NIH HHS / United States P30 AG028377 / AG / NIA NIH HHS / United States P50 AG008671 / AG / NIA NIH HHS / United States R01 AG054076 / AG / NIA NIH HHS / United States U54 HG003067 / HG / NHGRI NIH HHS / United States P50 AG005142 / AG / NIA NIH HHS / United States HHSN268201100010C / HL / NHLBI NIH HHS / United States R01 AG035137 / AG / NIA NIH HHS / United States P50 AG005131 / AG / NIA NIH HHS / United States R01 AG015928 / AG / NIA NIH HHS / United States P50 AG005128 / AG / NIA NIH HHS / United States P30 AG010133 / AG / NIA NIH HHS / United States U24 AG021886 / AG / NIA NIH HHS / United States R01 AG031581 / AG / NIA NIH HHS / United States HHSN268201100008C / HL / NHLBI NIH HHS / United States U01 HL080295 / HL / NHLBI NIH HHS / United States HHSN268201500001C / HL / NHLBI NIH HHS / United States P50 AG016574 / AG / NIA NIH HHS / United States P50 AG005146 / AG / NIA NIH HHS / United States HHSN268201100005G / HL / NHLBI NIH HHS / United States U01 AG049507 / AG / NIA NIH HHS / United States U01 HL096917 / HL / NHLBI NIH HHS / United States HHSN268201100008I / HL / NHLBI NIH HHS / United States U01 AG052411 / AG / NIA NIH HHS / United States R01 AG019085 / AG / NIA NIH HHS / United 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AG / NIA NIH HHS / United States P50 AG025688 / AG / NIA NIH HHS / United States HHSN268201100005I / HL / NHLBI NIH HHS / United States R37 AG015473 / AG / NIA NIH HHS / United States U24 AG026395 / AG / NIA NIH HHS / United States HHSN268201500001I / HL / NHLBI NIH HHS / United States U01 AG049508 / AG / NIA NIH HHS / United States U01 AG052410 / AG / NIA NIH HHS / United States R01 CA129769 / CA / NCI NIH HHS / United States U01 HL096814 / HL / NHLBI NIH HHS / United States P50 AG005133 / AG / NIA NIH HHS / United States U01 AG010483 / AG / NIA NIH HHS / United States P01 AG002219 / AG / NIA NIH HHS / United States U01 AG006781 / AG / NIA NIH HHS / United States R01 AG041797 / AG / NIA NIH HHS / United States P50 AG005144 / AG / NIA NIH HHS / United States P01 AG010491 / AG / NIA NIH HHS / United States R01 AG033040 / AG / NIA NIH HHS / United States R01 AG021547 / AG / NIA NIH HHS / United States R01 AG041232 / AG / NIA NIH HHS / United States P50 AG005138 / AG / NIA NIH HHS / United States U54 HG003079 / HG / NHGRI NIH HHS / United States R01 AG019757 / AG / NIA NIH HHS / United States R01 AG020688 / AG / NIA NIH HHS / United States U01 AG052409 / AG / NIA NIH HHS / United States R01 AG020098 / AG / NIA NIH HHS / United States N01HC85082 / HL / NHLBI NIH HHS / United States R01 AG030653 / AG / NIA NIH HHS / United States HHSN268201100009C / HL / NHLBI NIH HHS / United States R01 HL070825 / HL / NHLBI NIH HHS / United States N01HC85083 / HL / NHLBI NIH HHS / United States R01 AG027944 / AG / NIA NIH HHS / United States HHSN268201100005C / HL / NHLBI NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States R01 AG017173 / AG / NIA NIH HHS / United States R01 AG025259 / AG / NIA NIH HHS / United States U01 HL096899 / HL / NHLBI NIH HHS / United States HHSN268201100007I / HL / NHLBI NIH HHS / United States U01 AG049506 / AG / NIA NIH HHS / United States U01 HG004610 / HG / NHGRI NIH HHS / United States / / Wellcome Trust / United Kingdom P30 AG010129 / AG / NIA NIH HHS / United States P30 AG019610 / AG / NIA NIH HHS / United States P50 AG016582 / AG / NIA NIH HHS / United States R01 AG041718 / AG / NIA NIH HHS / United States N01HC85079 / HL / NHLBI NIH HHS / United States R01 AG023629 / AG / NIA NIH HHS / United States P30 AG028383 / AG / NIA NIH HHS / United States N01HC85080 / HL / NHLBI NIH HHS / United States R01 AG026916 / AG / NIA NIH HHS / United States P50 AG033514 / AG / NIA NIH HHS / United States R01 NS059873 / NS / NINDS NIH HHS / United States R01 AG015819 / AG / NIA NIH HHS / United States ZIA AG000932 / AG / NIA NIH HHS / United States N01HC85081 / HL / NHLBI NIH HHS / United States R01 AG057187 / AG / NIA NIH HHS / United States U01 AG049505 / AG / NIA NIH HHS / United States |
ePub date:
19/02