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Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

IMPORTANCEStroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often... Full description

Journal Title: JAMA neurology July 2015, Vol.72(7), pp.781-788
Main Author: Auer, Paul L
Other Authors: Nalls, Mike , Meschia, James F , Worrall, Bradford B , Longstreth, W T , Seshadri, Sudha , Kooperberg, Charles , Burger, Kathleen M , Carlson, Christopher S , Carty, Cara L , Chen, Wei-Min , Cupples, L Adrienne , Destefano, Anita L , Fornage, Myriam , Hardy, John , Hsu, Li , Jackson, Rebecca D , Jarvik, Gail P , Kim, Daniel S , Lakshminarayan
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 2168-6157 ; DOI: 10.1001/jamaneurol.2015.0582
Link: http://search.proquest.com/docview/1696679802/?pq-origsite=primo
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title: Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
format: Article
creator:
  • Auer, Paul L
  • Nalls, Mike
  • Meschia, James F
  • Worrall, Bradford B
  • Longstreth, W T
  • Seshadri, Sudha
  • Kooperberg, Charles
  • Burger, Kathleen M
  • Carlson, Christopher S
  • Carty, Cara L
  • Chen, Wei-Min
  • Cupples, L Adrienne
  • Destefano, Anita L
  • Fornage, Myriam
  • Hardy, John
  • Hsu, Li
  • Jackson, Rebecca D
  • Jarvik, Gail P
  • Kim, Daniel S
  • Lakshminarayan
subjects:
  • Aged–Diagnosis
  • Brain Ischemia–Genetics
  • Exome–Genetics
  • Female–Genetics
  • Genetic Predisposition to Disease–Genetics
  • Genetic Variation–Methods
  • Genome-Wide Association Study–Genetics
  • Humans–Genetics
  • Male–Genetics
  • Middle Aged–Genetics
  • Muscle Proteins–Diagnosis
  • National Heart, Lung, and Blood Institute (U.S.)–Epidemiology
  • Nuclear Proteins–Genetics
  • Open Reading Frames–Epidemiology
  • Palmitoyl-Coa Hydrolase–Epidemiology
  • Stroke–Epidemiology
  • United States–Epidemiology
  • Abridged
  • Muscle Proteins
  • Nuclear Proteins
ispartof: JAMA neurology, July 2015, Vol.72(7), pp.781-788
description: IMPORTANCEStroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects without obvious biological significance. Exome sequencing may discover predicted protein-altering variants with a potentially large effect on ischemic stroke risk. OBJECTIVETo investigate the contribution of rare and common genetic variants to ischemic stroke risk by targeting the protein-coding regions of the human genome. DESIGN, SETTING, AND PARTICIPANTSThe National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) analyzed approximately 6000 participants from numerous cohorts of European and African ancestry. For discovery, 365 cases of ischemic stroke (small-vessel and large-vessel subtypes) and 809 European ancestry controls were sequenced; for replication,...
language: eng
source:
identifier: E-ISSN: 2168-6157 ; DOI: 10.1001/jamaneurol.2015.0582
fulltext: fulltext
issn:
  • 21686157
  • 2168-6157
url: Link


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titleRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
creatorAuer, Paul L ; Nalls, Mike ; Meschia, James F ; Worrall, Bradford B ; Longstreth, W T ; Seshadri, Sudha ; Kooperberg, Charles ; Burger, Kathleen M ; Carlson, Christopher S ; Carty, Cara L ; Chen, Wei-Min ; Cupples, L Adrienne ; Destefano, Anita L ; Fornage, Myriam ; Hardy, John ; Hsu, Li ; Jackson, Rebecca D ; Jarvik, Gail P ; Kim, Daniel S ; Lakshminarayan
contributorGabriel, Stacey B (correspondence author) ; Altshuler, David M (record owner) ; Abecasis, Gonçalo R ; Allayee, Hooman ; Cresci, Sharon ; Daly, Mark J ; de Bakker, Paul I W ; Depristo, Mark A ; Do, Ron ; Donnelly, Peter ; Farlow, Deborah N ; Fennell, Tim ; Garimella, Kiran ; Hazen, Stanley L ; Hu, Youna ; Jordan, Daniel M ; Jun, Goo ; Kathiresan, Sekar ; Kang
ispartofJAMA neurology, July 2015, Vol.72(7), pp.781-788
identifierE-ISSN: 2168-6157 ; DOI: 10.1001/jamaneurol.2015.0582
subjectAged–Diagnosis ; Brain Ischemia–Genetics ; Exome–Genetics ; Female–Genetics ; Genetic Predisposition to Disease–Genetics ; Genetic Variation–Methods ; Genome-Wide Association Study–Genetics ; Humans–Genetics ; Male–Genetics ; Middle Aged–Genetics ; Muscle Proteins–Diagnosis ; National Heart, Lung, and Blood Institute (U.S.)–Epidemiology ; Nuclear Proteins–Genetics ; Open Reading Frames–Epidemiology ; Palmitoyl-Coa Hydrolase–Epidemiology ; Stroke–Epidemiology ; United States–Epidemiology ; Abridged ; Muscle Proteins ; Nuclear Proteins
descriptionIMPORTANCEStroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects without obvious biological significance. Exome sequencing may discover predicted protein-altering variants with a potentially large effect on ischemic stroke risk. OBJECTIVETo investigate the contribution of rare and common genetic variants to ischemic stroke risk by targeting the protein-coding regions of the human genome. DESIGN, SETTING, AND PARTICIPANTSThe National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) analyzed approximately 6000 participants from numerous cohorts of European and African ancestry. For discovery, 365 cases of ischemic stroke (small-vessel and large-vessel subtypes) and 809 European ancestry controls were sequenced; for replication,...
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17Jarvik, Gail P
18Kim, Daniel S
19Lakshminarayan, Kamakshi
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21Manichaikul, Ani
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23Singleton, Andrew B
24Thornton, Timothy A
25Nickerson, Deborah A
26Peters, Ulrike
27Rich, Stephen S
titleRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
descriptionIMPORTANCEStroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects without obvious biological significance. Exome sequencing may discover predicted protein-altering variants with a potentially large effect on ischemic stroke risk. OBJECTIVETo investigate the contribution of rare and common genetic variants to ischemic stroke risk by targeting the protein-coding regions of the human genome. DESIGN, SETTING, AND PARTICIPANTSThe National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) analyzed approximately 6000 participants from numerous cohorts of European and African ancestry. For discovery, 365 cases of ischemic stroke (small-vessel and large-vessel subtypes) and 809 European ancestry controls were sequenced; for replication,...
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8Male–Genetics
9Middle Aged–Genetics
10Muscle Proteins–Diagnosis
11National Heart, Lung, and Blood Institute (U.S.)–Epidemiology
12Nuclear Proteins–Genetics
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11Fennell, Tim
12Garimella, Kiran
13Hazen, Stanley L
14Hu, Youna
15Jordan, Daniel M
16Jun, Goo
17Kathiresan, Sekar
18Kang, Hyun Min
19Kiezun, Adam
20Lettre, Guillaume
21Li, Bingshan
22Li, Mingyao
23Newton-Cheh, Christopher H
24Padmanabhan, Sandosh
25Peloso, Gina
26Pulit, Sara
27Rader, Daniel J
28Reich, David
29Reilly, Muredach P
30Rivas, Manuel A
31Schwartz, Steve
32Scott, Laura
33Siscovick, David S
34Spertus, John A
35Stitziel, Nathan O
36Stoletzki, Nina
37Sunyaev, Shamil R
38Voight, Benjamin F
39Willer, Cristen J
40Rich, Stephen S
41Akylbekova, Ermeg
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64Dupuis, Josée
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66Ellis, Jaclyn
67Folsom, Aaron R
68Fornage, Myriam
69Fox, Caroline S
70Fox, Ervin
71Funari, Vincent
72Ganesh, Santhi K
73Gardin, Julius
74Goff, David
75Gordon, Ora
76Grody, Wayne
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78Guo, Xiuqing
79Hall, Ira M
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81Heckbert, Susan R
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83Herrington, David M
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85Huang, Jie
86Hwang, Shih-Jen
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89Johnson, Andrew D
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97Lawson, Mark
98Lewis, Cora E
99Levy, Daniel
100...
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titleRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
authorAuer, Paul L ; Nalls, Mike ; Meschia, James F ; Worrall, Bradford B ; Longstreth, W T ; Seshadri, Sudha ; Kooperberg, Charles ; Burger, Kathleen M ; Carlson, Christopher S ; Carty, Cara L ; Chen, Wei-Min ; Cupples, L Adrienne ; Destefano, Anita L ; Fornage, Myriam ; Hardy, John ; Hsu, Li ; Jackson, Rebecca D ; Jarvik, Gail P ; Kim, Daniel S ; Lakshminarayan
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3Female–Genetics
4Genetic Predisposition to Disease–Genetics
5Genetic Variation–Methods
6Genome-Wide Association Study–Genetics
7Humans–Genetics
8Male–Genetics
9Middle Aged–Genetics
10Muscle Proteins–Diagnosis
11National Heart, Lung, and Blood Institute (U.S.)–Epidemiology
12Nuclear Proteins–Genetics
13Open Reading Frames–Epidemiology
14Palmitoyl-Coa Hydrolase–Epidemiology
15Stroke–Epidemiology
16United States–Epidemiology
17Abridged
18Muscle Proteins
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5Seshadri, Sudha
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7Burger, Kathleen M
8Carlson, Christopher S
9Carty, Cara L
10Chen, Wei-Min
11Cupples, L Adrienne
12Destefano, Anita L
13Fornage, Myriam
14Hardy, John
15Hsu, Li
16Jackson, Rebecca D
17Jarvik, Gail P
18Kim, Daniel S
19Lakshminarayan, Kamakshi
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22Quinlan, Aaron R
23Singleton, Andrew B
24Thornton, Timothy A
25Nickerson, Deborah A
26Peters, Ulrike
27Rich, Stephen S
28Gabriel, Stacey B
29Altshuler, David M
30Abecasis, Gonçalo R
31Allayee, Hooman
32Cresci, Sharon
33Daly, Mark J
34de Bakker, Paul I W
35Depristo, Mark A
36Do, Ron
37Donnelly, Peter
38Farlow, Deborah N
39Fennell, Tim
40Garimella, Kiran
41Hazen, Stanley L
42Hu, Youna
43Jordan, Daniel M
44Jun, Goo
45Kathiresan, Sekar
46Kang, Hyun Min
47Kiezun, Adam
48Lettre, Guillaume
49Li, Bingshan
50Li, Mingyao
51Newton-Cheh, Christopher H
52Padmanabhan, Sandosh
53Peloso, Gina
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56Reich, David
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61Siscovick, David S
62Spertus, John A
63Stitziel, Nathan O
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65Sunyaev, Shamil R
66Voight, Benjamin F
67Willer, Cristen J
68Akylbekova, Ermeg
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89Durda, J Peter
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92Fox, Caroline S
93Fox, Ervin
94Funari, Vincent
95Ganesh, Santhi K
96Gardin, Julius
97Goff, David
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10Chen, Wei-Min
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18Kim, Daniel S
19Lakshminarayan, Kamakshi
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13Hazen, Stanley L
14Hu, Youna
15Jordan, Daniel M
16Jun, Goo
17Kathiresan, Sekar
18Kang, Hyun Min
19Kiezun, Adam
20Lettre, Guillaume
21Li, Bingshan
22Li, Mingyao
23Newton-Cheh, Christopher H
24Padmanabhan, Sandosh
25Peloso, Gina
26Pulit, Sara
27Rader, Daniel J
28Reich, David
29Reilly, Muredach P
30Rivas, Manuel A
31Schwartz, Steve
32Scott, Laura
33Siscovick, David S
34Spertus, John A
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37Sunyaev, Shamil R
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44Barbalic, Maja
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50Brody, Jennifer
51Budoff, Matthew
52Burke, Greg
53Buxbaum, Sarah
54Carr, Jeff
55Chen, Donna T
56Chen, Ida Y
57Chen, Wei-Min
58Concannon, Pat
59Crosby, Jacy
60Cupples, L Adrienne
61D'Agostino, Ralph
62DeStefano, Anita L
63Dreisbach, Albert
64Dupuis, Josée
65Durda, J Peter
66Ellis, Jaclyn
67Folsom, Aaron R
68Fornage, Myriam
69Fox, Caroline S
70Fox, Ervin
71Funari, Vincent
72Ganesh, Santhi K
73Gardin, Julius
74Goff, David
75Gordon, Ora
76Grody, Wayne
77Gross, Myron
78Guo, Xiuqing
79Hall, Ira M
80Heard-Costa, Nancy L
81Heckbert, Susan R
82Heintz, Nicholas
83Herrington, David M
84Hickson, DeMarc
85Huang, Jie
86Hwang, Shih-Jen
87Jacobs, David R
88Jenny, Nancy S
89Johnson, Andrew D
90Johnson, Craig W
91Kawut, Steven
92Kronmal, Richard
93Kurz, Raluca
94Lange, Ethan M
95Lange, Leslie A
96Larson, Martin G
97Lawson, Mark
98Lewis, Cora E
99Levy, Daniel
100...
atitleRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
jtitleJAMA neurology
risdate20150701
volume72
issue7
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pages781-788
eissn2168-6157
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abstractIMPORTANCEStroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects without obvious biological significance. Exome sequencing may discover predicted protein-altering variants with a potentially large effect on ischemic stroke risk. OBJECTIVETo investigate the contribution of rare and common genetic variants to ischemic stroke risk by targeting the protein-coding regions of the human genome. DESIGN, SETTING, AND PARTICIPANTSThe National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) analyzed approximately 6000 participants from numerous cohorts of European and African ancestry. For discovery, 365 cases of ischemic stroke (small-vessel and large-vessel subtypes) and 809 European ancestry controls were sequenced; for replication,...
doi10.1001/jamaneurol.2015.0582
urlhttp://search.proquest.com/docview/1696679802/
issn21686149
date2015-07-01