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Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects

Background Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powere... Full description

Journal Title: Journal of medical genetics 2012-09, Vol.49 (9), p.558-562
Main Author: Lill, Christina M
Other Authors: Liu, Tian , Schjeide, Brit-Maren M , Roehr, Johannes T , Akkad, Denis A , Damotte, Vincent , Alcina, Antonio , Ortiz, Miguel A , Arroyo, Rafa , Lopez de Lapuente, Aitzkoa , Blaschke, Paul , Winkelmann, Alexander , Gerdes, Lisa-Ann , Luessi, Felix , Fernadez, Oscar , Izquierdo, Guillermo , Antigüedad, Alfredo , Hoffjan, Sabine , Cournu-Rebeix, Isabelle , Gromöller, Silvana , Faber, Hans , Liebsch, Maria , Meissner, Esther , Chanvillard, Coralie , Touze, Emmanuel , Pico, Fernando , Corcia, Philippe , Dörner, Thomas , Steinhagen-Thiessen, Elisabeth , Baeckman, Lars , Heekeren, Hauke R , Li, Shu-Chen , Lindenberger, Ulman , Chan, Andrew , Hartung, Hans-Peter , Aktas, Orhan , Lohse, Peter , Kümpfel, Tania , Kubisch, Christian , Epplen, Joerg T , Zettl, Uwe K , Fontaine, Bertrand , Vandenbroeck, Koen , Matesanz, Fuencisla , Urcelay, Elena , Bertram, Lars , Zipp, Frauke
Format: Electronic Article Electronic Article
Language: English
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Quelle: Alma/SFX Local Collection
Publisher: London: BMJ Publishing Group Ltd
ID: ISSN: 0022-2593
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title: Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
format: Article
creator:
  • Lill, Christina M
  • Liu, Tian
  • Schjeide, Brit-Maren M
  • Roehr, Johannes T
  • Akkad, Denis A
  • Damotte, Vincent
  • Alcina, Antonio
  • Ortiz, Miguel A
  • Arroyo, Rafa
  • Lopez de Lapuente, Aitzkoa
  • Blaschke, Paul
  • Winkelmann, Alexander
  • Gerdes, Lisa-Ann
  • Luessi, Felix
  • Fernadez, Oscar
  • Izquierdo, Guillermo
  • Antigüedad, Alfredo
  • Hoffjan, Sabine
  • Cournu-Rebeix, Isabelle
  • Gromöller, Silvana
  • Faber, Hans
  • Liebsch, Maria
  • Meissner, Esther
  • Chanvillard, Coralie
  • Touze, Emmanuel
  • Pico, Fernando
  • Corcia, Philippe
  • Dörner, Thomas
  • Steinhagen-Thiessen, Elisabeth
  • Baeckman, Lars
  • Heekeren, Hauke R
  • Li, Shu-Chen
  • Lindenberger, Ulman
  • Chan, Andrew
  • Hartung, Hans-Peter
  • Aktas, Orhan
  • Lohse, Peter
  • Kümpfel, Tania
  • Kubisch, Christian
  • Epplen, Joerg T
  • Zettl, Uwe K
  • Fontaine, Bertrand
  • Vandenbroeck, Koen
  • Matesanz, Fuencisla
  • Urcelay, Elena
  • Bertram, Lars
  • Zipp, Frauke
subjects:
  • APOE
  • Apolipoproteins
  • Apolipoproteins E - genetics
  • Basic Medicine
  • Biological and medical sciences
  • Databases, Genetic
  • European Continental Ancestry Group - genetics
  • Fundamental and applied biological sciences. Psychology
  • Genetic aspects
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetics of eukaryotes. Biological and molecular evolution
  • genome-wide association study
  • Humans
  • imputation
  • Medical and Health Sciences
  • Medical Genetics
  • Medical sciences
  • Medicin och hälsovetenskap
  • Medicinsk genetik
  • Medicinska och farmaceutiska grundvetenskaper
  • Medizin
  • meta-analysis
  • Molecular and cellular biology
  • Multiple sclerosis
  • Multiple Sclerosis - genetics
  • Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
  • Neurology
  • Polymorphism, Single Nucleotide - genetics
  • Research
  • Risk Factors
  • Single nucleotide polymorphisms
ispartof: Journal of medical genetics, 2012-09, Vol.49 (9), p.558-562
description: Background Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genome-wide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Results Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Conclusion Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0022-2593
fulltext: fulltext
issn:
  • 0022-2593
  • 1468-6244
  • 1468-6244
url: Link


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titleClosing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
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creatorLill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa ; Lopez de Lapuente, Aitzkoa ; Blaschke, Paul ; Winkelmann, Alexander ; Gerdes, Lisa-Ann ; Luessi, Felix ; Fernadez, Oscar ; Izquierdo, Guillermo ; Antigüedad, Alfredo ; Hoffjan, Sabine ; Cournu-Rebeix, Isabelle ; Gromöller, Silvana ; Faber, Hans ; Liebsch, Maria ; Meissner, Esther ; Chanvillard, Coralie ; Touze, Emmanuel ; Pico, Fernando ; Corcia, Philippe ; Dörner, Thomas ; Steinhagen-Thiessen, Elisabeth ; Baeckman, Lars ; Heekeren, Hauke R ; Li, Shu-Chen ; Lindenberger, Ulman ; Chan, Andrew ; Hartung, Hans-Peter ; Aktas, Orhan ; Lohse, Peter ; Kümpfel, Tania ; Kubisch, Christian ; Epplen, Joerg T ; Zettl, Uwe K ; Fontaine, Bertrand ; Vandenbroeck, Koen ; Matesanz, Fuencisla ; Urcelay, Elena ; Bertram, Lars ; Zipp, Frauke
creatorcontribLill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa ; Lopez de Lapuente, Aitzkoa ; Blaschke, Paul ; Winkelmann, Alexander ; Gerdes, Lisa-Ann ; Luessi, Felix ; Fernadez, Oscar ; Izquierdo, Guillermo ; Antigüedad, Alfredo ; Hoffjan, Sabine ; Cournu-Rebeix, Isabelle ; Gromöller, Silvana ; Faber, Hans ; Liebsch, Maria ; Meissner, Esther ; Chanvillard, Coralie ; Touze, Emmanuel ; Pico, Fernando ; Corcia, Philippe ; Dörner, Thomas ; Steinhagen-Thiessen, Elisabeth ; Baeckman, Lars ; Heekeren, Hauke R ; Li, Shu-Chen ; Lindenberger, Ulman ; Chan, Andrew ; Hartung, Hans-Peter ; Aktas, Orhan ; Lohse, Peter ; Kümpfel, Tania ; Kubisch, Christian ; Epplen, Joerg T ; Zettl, Uwe K ; Fontaine, Bertrand ; Vandenbroeck, Koen ; Matesanz, Fuencisla ; Urcelay, Elena ; Bertram, Lars ; Zipp, Frauke ; ANZgene Consortium,{dagger} ; ANZgene Consortium
descriptionBackground Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genome-wide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Results Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Conclusion Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.
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0ISSN: 0022-2593
1ISSN: 1468-6244
2EISSN: 1468-6244
3DOI: 10.1136/jmedgenet-2012-101175
4PMID: 22972946
5CODEN: JMDGAE
languageeng
publisherLondon: BMJ Publishing Group Ltd
subjectAPOE ; Apolipoproteins ; Apolipoproteins E - genetics ; Basic Medicine ; Biological and medical sciences ; Databases, Genetic ; European Continental Ancestry Group - genetics ; Fundamental and applied biological sciences. Psychology ; Genetic aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; genome-wide association study ; Humans ; imputation ; Medical and Health Sciences ; Medical Genetics ; Medical sciences ; Medicin och hälsovetenskap ; Medicinsk genetik ; Medicinska och farmaceutiska grundvetenskaper ; Medizin ; meta-analysis ; Molecular and cellular biology ; Multiple sclerosis ; Multiple Sclerosis - genetics ; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis ; Neurology ; Polymorphism, Single Nucleotide - genetics ; Research ; Risk Factors ; Single nucleotide polymorphisms
ispartofJournal of medical genetics, 2012-09, Vol.49 (9), p.558-562
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02012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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0Lill, Christina M
1Liu, Tian
2Schjeide, Brit-Maren M
3Roehr, Johannes T
4Akkad, Denis A
5Damotte, Vincent
6Alcina, Antonio
7Ortiz, Miguel A
8Arroyo, Rafa
9Lopez de Lapuente, Aitzkoa
10Blaschke, Paul
11Winkelmann, Alexander
12Gerdes, Lisa-Ann
13Luessi, Felix
14Fernadez, Oscar
15Izquierdo, Guillermo
16Antigüedad, Alfredo
17Hoffjan, Sabine
18Cournu-Rebeix, Isabelle
19Gromöller, Silvana
20Faber, Hans
21Liebsch, Maria
22Meissner, Esther
23Chanvillard, Coralie
24Touze, Emmanuel
25Pico, Fernando
26Corcia, Philippe
27Dörner, Thomas
28Steinhagen-Thiessen, Elisabeth
29Baeckman, Lars
30Heekeren, Hauke R
31Li, Shu-Chen
32Lindenberger, Ulman
33Chan, Andrew
34Hartung, Hans-Peter
35Aktas, Orhan
36Lohse, Peter
37Kümpfel, Tania
38Kubisch, Christian
39Epplen, Joerg T
40Zettl, Uwe K
41Fontaine, Bertrand
42Vandenbroeck, Koen
43Matesanz, Fuencisla
44Urcelay, Elena
45Bertram, Lars
46Zipp, Frauke
47ANZgene Consortium,{dagger}
48ANZgene Consortium
title
0Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
1Journal of medical genetics
addtitleJ Med Genet
descriptionBackground Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genome-wide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Results Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Conclusion Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.
subject
0APOE
1Apolipoproteins
2Apolipoproteins E - genetics
3Basic Medicine
4Biological and medical sciences
5Databases, Genetic
6European Continental Ancestry Group - genetics
7Fundamental and applied biological sciences. Psychology
8Genetic aspects
9Genetic Association Studies
10Genetic Predisposition to Disease
11Genetics of eukaryotes. Biological and molecular evolution
12genome-wide association study
13Humans
14imputation
15Medical and Health Sciences
16Medical Genetics
17Medical sciences
18Medicin och hälsovetenskap
19Medicinsk genetik
20Medicinska och farmaceutiska grundvetenskaper
21Medizin
22meta-analysis
23Molecular and cellular biology
24Multiple sclerosis
25Multiple Sclerosis - genetics
26Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
27Neurology
28Polymorphism, Single Nucleotide - genetics
29Research
30Risk Factors
31Single nucleotide polymorphisms
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8Arroyo, Rafa
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10Blaschke, Paul
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12Gerdes, Lisa-Ann
13Luessi, Felix
14Fernadez, Oscar
15Izquierdo, Guillermo
16Antigüedad, Alfredo
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18Cournu-Rebeix, Isabelle
19Gromöller, Silvana
20Faber, Hans
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22Meissner, Esther
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24Touze, Emmanuel
25Pico, Fernando
26Corcia, Philippe
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31Li, Shu-Chen
32Lindenberger, Ulman
33Chan, Andrew
34Hartung, Hans-Peter
35Aktas, Orhan
36Lohse, Peter
37Kümpfel, Tania
38Kubisch, Christian
39Epplen, Joerg T
40Zettl, Uwe K
41Fontaine, Bertrand
42Vandenbroeck, Koen
43Matesanz, Fuencisla
44Urcelay, Elena
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titleClosing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
authorLill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa ; Lopez de Lapuente, Aitzkoa ; Blaschke, Paul ; Winkelmann, Alexander ; Gerdes, Lisa-Ann ; Luessi, Felix ; Fernadez, Oscar ; Izquierdo, Guillermo ; Antigüedad, Alfredo ; Hoffjan, Sabine ; Cournu-Rebeix, Isabelle ; Gromöller, Silvana ; Faber, Hans ; Liebsch, Maria ; Meissner, Esther ; Chanvillard, Coralie ; Touze, Emmanuel ; Pico, Fernando ; Corcia, Philippe ; Dörner, Thomas ; Steinhagen-Thiessen, Elisabeth ; Baeckman, Lars ; Heekeren, Hauke R ; Li, Shu-Chen ; Lindenberger, Ulman ; Chan, Andrew ; Hartung, Hans-Peter ; Aktas, Orhan ; Lohse, Peter ; Kümpfel, Tania ; Kubisch, Christian ; Epplen, Joerg T ; Zettl, Uwe K ; Fontaine, Bertrand ; Vandenbroeck, Koen ; Matesanz, Fuencisla ; Urcelay, Elena ; Bertram, Lars ; Zipp, Frauke
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1Apolipoproteins
2Apolipoproteins E - genetics
3Basic Medicine
4Biological and medical sciences
5Databases, Genetic
6European Continental Ancestry Group - genetics
7Fundamental and applied biological sciences. Psychology
8Genetic aspects
9Genetic Association Studies
10Genetic Predisposition to Disease
11Genetics of eukaryotes. Biological and molecular evolution
12genome-wide association study
13Humans
14imputation
15Medical and Health Sciences
16Medical Genetics
17Medical sciences
18Medicin och hälsovetenskap
19Medicinsk genetik
20Medicinska och farmaceutiska grundvetenskaper
21Medizin
22meta-analysis
23Molecular and cellular biology
24Multiple sclerosis
25Multiple Sclerosis - genetics
26Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
27Neurology
28Polymorphism, Single Nucleotide - genetics
29Research
30Risk Factors
31Single nucleotide polymorphisms
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1Liu, Tian
2Schjeide, Brit-Maren M
3Roehr, Johannes T
4Akkad, Denis A
5Damotte, Vincent
6Alcina, Antonio
7Ortiz, Miguel A
8Arroyo, Rafa
9Lopez de Lapuente, Aitzkoa
10Blaschke, Paul
11Winkelmann, Alexander
12Gerdes, Lisa-Ann
13Luessi, Felix
14Fernadez, Oscar
15Izquierdo, Guillermo
16Antigüedad, Alfredo
17Hoffjan, Sabine
18Cournu-Rebeix, Isabelle
19Gromöller, Silvana
20Faber, Hans
21Liebsch, Maria
22Meissner, Esther
23Chanvillard, Coralie
24Touze, Emmanuel
25Pico, Fernando
26Corcia, Philippe
27Dörner, Thomas
28Steinhagen-Thiessen, Elisabeth
29Baeckman, Lars
30Heekeren, Hauke R
31Li, Shu-Chen
32Lindenberger, Ulman
33Chan, Andrew
34Hartung, Hans-Peter
35Aktas, Orhan
36Lohse, Peter
37Kümpfel, Tania
38Kubisch, Christian
39Epplen, Joerg T
40Zettl, Uwe K
41Fontaine, Bertrand
42Vandenbroeck, Koen
43Matesanz, Fuencisla
44Urcelay, Elena
45Bertram, Lars
46Zipp, Frauke
47ANZgene Consortium,{dagger}
48ANZgene Consortium
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jtitleJournal of medical genetics
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
au
0Lill, Christina M
1Liu, Tian
2Schjeide, Brit-Maren M
3Roehr, Johannes T
4Akkad, Denis A
5Damotte, Vincent
6Alcina, Antonio
7Ortiz, Miguel A
8Arroyo, Rafa
9Lopez de Lapuente, Aitzkoa
10Blaschke, Paul
11Winkelmann, Alexander
12Gerdes, Lisa-Ann
13Luessi, Felix
14Fernadez, Oscar
15Izquierdo, Guillermo
16Antigüedad, Alfredo
17Hoffjan, Sabine
18Cournu-Rebeix, Isabelle
19Gromöller, Silvana
20Faber, Hans
21Liebsch, Maria
22Meissner, Esther
23Chanvillard, Coralie
24Touze, Emmanuel
25Pico, Fernando
26Corcia, Philippe
27Dörner, Thomas
28Steinhagen-Thiessen, Elisabeth
29Baeckman, Lars
30Heekeren, Hauke R
31Li, Shu-Chen
32Lindenberger, Ulman
33Chan, Andrew
34Hartung, Hans-Peter
35Aktas, Orhan
36Lohse, Peter
37Kümpfel, Tania
38Kubisch, Christian
39Epplen, Joerg T
40Zettl, Uwe K
41Fontaine, Bertrand
42Vandenbroeck, Koen
43Matesanz, Fuencisla
44Urcelay, Elena
45Bertram, Lars
46Zipp, Frauke
aucorp
0ANZgene Consortium,{dagger}
1ANZgene Consortium
formatjournal
genrearticle
ristypeJOUR
atitleClosing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
jtitleJournal of medical genetics
addtitleJ Med Genet
date2012-09
risdate2012
volume49
issue9
spage558
epage562
pages558-562
issn
00022-2593
11468-6244
eissn1468-6244
codenJMDGAE
notesA list of all co-authors for the ANZgene consortium can be found at the end of this manuscript
abstractBackground Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genome-wide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Results Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Conclusion Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.
copLondon
pubBMJ Publishing Group Ltd
pmid22972946
doi10.1136/jmedgenet-2012-101175
oafree_for_read