دورية أكاديمية
أعرض في EDS

Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.

التفاصيل البيبلوغرافية
العنوان: Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.
المؤلفون: Rajabli F; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Feliciano-Astacio BE; Universidad Central del Caribe, Bayamón, PR, USA., Cukier HN; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Wang L; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Griswold AJ; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Hamilton-Nelson KL; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Adams LD; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Rodriguez VC; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Mena PR; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Tejada S; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Celis K; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Whitehead PL; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Van Booven DJ; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Hofmann NK; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Bussies PL; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Prough M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Chinea A; Universidad Central del Caribe, Bayamón, PR, USA., Feliciano NI; Hospital De Psiquiatría Estatal Dr. Ramón Fernández Marina-Centro Médico, San Juan, PR, USA., Vardarajan BN; Departments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA., Reitz C; Departments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA., Lee JH; Departments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA., Prince MJ; Department of Epidemiological Psychiatry, Centre for Public Mental Health, Institute of Psychiatry, King's College, London, UK., Jimenez IZ; University of Puerto Rico School of Medicine, San Juan, PR, USA., Mayeux RP; Departments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA., Acosta H; Clinica de la Memoria, San Juan, PR, USA., Dalgard CL; Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Haines JL; Department of Population & Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA., Vance JM; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Cuccaro ML; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Beecham GW; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address: mpericak@med.miami.edu.
المصدر: Neurobiology of aging [Neurobiol Aging] 2021 Aug; Vol. 104, pp. 115.e1-115.e7. Date of Electronic Publication: 2021 Feb 28.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE
أسماء مطبوعة: Publication: New York : Elsevier
Original Publication: Fayetteville, N.Y. : Ankho International.
مواضيع طبية MeSH: Genetic Linkage* , Genome-Wide Association Study*, Alzheimer Disease/*genetics , Chromosomes, Human, Pair 9/*genetics , Genetic Variation/*genetics, C9orf72 Protein/genetics ; Hispanic or Latino/genetics ; Humans ; Nerve Tissue Proteins/genetics ; Whole Genome Sequencing
مستخلص: The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). We sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score (CADD) >10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) >5.1, which overlaps with an AD linkage region from two published independent studies. The region harbors C9orf72, but no expanded repeats were observed in the families. Seven variants prioritized by the PRADI families also displayed evidence for association in the PR10/66 (p < 0.05), including a missense variant in UNC13B. Our study demonstrated the importance of family-based design and WGS in genetic study of AD.
(Copyright © 2021. Published by Elsevier Inc.)
References: Neuron. 2011 Oct 20;72(2):257-68. (PMID: 21944779)
Blood. 2002 Sep 15;100(6):1948-56. (PMID: 12200351)
Gigascience. 2015 Feb 25;4:7. (PMID: 25722852)
Nature. 1995 Aug 31;376(6543):775-8. (PMID: 7651536)
Ann Neurol. 2014 Jul;76(1):120-33. (PMID: 24931836)
Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):9037-42. (PMID: 12070347)
Biol Psychiatry. 2014 Apr 1;75(7):534-41. (PMID: 23890735)
Neuropsychopharmacol Rep. 2018 Dec;38(4):210-213. (PMID: 30117296)
Am J Hum Genet. 2013 Aug 8;93(2):278-88. (PMID: 23910464)
Proc Natl Acad Sci U S A. 2013 Mar 5;110(10):3985-90. (PMID: 23426633)
JAMA. 1997 Oct 22-29;278(16):1349-56. (PMID: 9343467)
Annu Rev Genomics Hum Genet. 2007;8:1-15. (PMID: 17408354)
Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10577-82. (PMID: 17563386)
Front Genet. 2019 Jun 19;10:538. (PMID: 31275353)
Nat Rev Neurol. 2011 Mar;7(3):137-52. (PMID: 21304480)
Alzheimers Dement. 2011 May;7(3):270-9. (PMID: 21514249)
Nature. 1987 Feb 19-25;325(6106):733-6. (PMID: 2881207)
Nat Genet. 1992 Dec;2(4):335-9. (PMID: 1303290)
Genome Biol. 2016 Jun 06;17(1):122. (PMID: 27268795)
Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199)
Science. 1987 Feb 20;235(4791):873-7. (PMID: 3544219)
Hum Mol Genet. 1996 Jul;5(7):985-8. (PMID: 8817335)
Neurol Genet. 2016 May 17;2(3):e79. (PMID: 27231719)
Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):797-805. (PMID: 26990377)
Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):593-599. (PMID: 27584932)
Neuron. 2011 Oct 20;72(2):245-56. (PMID: 21944778)
Nat Genet. 2011 May;43(5):491-8. (PMID: 21478889)
Nat Genet. 2002 Jan;30(1):97-101. (PMID: 11731797)
Nat Commun. 2014 Jun 13;5:3934. (PMID: 25653097)
PLoS One. 2013 Nov 07;8(11):e79771. (PMID: 24244562)
JAMA. 2013 Apr 10;309(14):1483-92. (PMID: 23571587)
Science. 1995 Aug 18;269(5226):973-7. (PMID: 7638622)
Int J Epidemiol. 2017 Apr 1;46(2):406-406i. (PMID: 27154633)
Science. 1992 Oct 23;258(5082):668-71. (PMID: 1411576)
Exp Gerontol. 2000 Dec;35(9-10):1343-52. (PMID: 11113612)
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. (PMID: 30371827)
Nat Genet. 1992 Dec;2(4):330-4. (PMID: 1303289)
Neurology. 1984 Jul;34(7):939-44. (PMID: 6610841)
Ann Hum Genet. 2013 Sep;77(5):351-63. (PMID: 23845100)
Nature. 2015 Oct 1;526(7571):68-74. (PMID: 26432245)
Cell. 2019 Mar 21;177(1):26-31. (PMID: 30901543)
Genome Res. 2009 Sep;19(9):1655-64. (PMID: 19648217)
Neurobiol Aging. 2013 May;34(5):1519.e5-12. (PMID: 23107433)
Hum Mol Genet. 2003 Feb 15;12(4):415-22. (PMID: 12566388)
Alzheimers Dement. 2011 May;7(3):263-9. (PMID: 21514250)
J Alzheimers Dis. 2015;46(1):93-107. (PMID: 25720398)
معلومات مُعتمدة: U01 AG058654 United States AG NIA NIH HHS; RF1 AG054074 United States AG NIA NIH HHS; U01 AG057659 United States AG NIA NIH HHS; P30 AG066462 United States AG NIA NIH HHS; R01 AG070864 United States AG NIA NIH HHS
فهرسة مساهمة: Keywords: Alzheimer disease; Chromosome 9; Genetic linkage; Puerto Ricans; Underserved populations
المشرفين على المادة: 0 (C9orf72 Protein)
0 (C9orf72 protein, human)
0 (Nerve Tissue Proteins)
0 (UNC13B protein, human)
تواريخ الأحداث: Date Created: 20210427 Date Completed: 20211223 Latest Revision: 20220802
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8851406
DOI: 10.1016/j.neurobiolaging.2021.02.019
PMID: 33902942
قاعدة البيانات: MEDLINE
الوصف
تدمد:1558-1497
DOI:10.1016/j.neurobiolaging.2021.02.019