Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Myocardial Infarction Genetics Consortium; Sekar Kathiresan; Benjamin F Voight; Shaun Purcell; Kiran Musunuru; Diego Ardissino; Pier M Mannucci; Sonia Anand; James C Engert; Nilesh J Samani; Heribert Schunkert; Jeanette Erdmann; Muredach P Reilly; Daniel J Rader; Thomas Morgan; John A Spertus; Monika Stoll; Domenico Girelli; Pascal McKeown; Chris C Patterson; David Siscovick; Christopher J O'Donnell; Roberto Elosua; Leena Peltonen; Veikko Salomaa; Stephen M Schwartz; Olle Melander; David Altshuler; Diego Ardissino; Pier Angelica Merlini; Carlo Berzuini; Luisa Bernardinelli; Flora Peyvandi; Marco Tubaro; Patrizia Celli; Maurizio Ferrario; Raffaela Fetiveau; Heribert Schunkert; Jeanette Erdmann; Wolfgang Lieb; Andreas Ziegler; Inke König; Michael Preuss; Heribert Schunkert; Jeanette Erdmann; Klaus Berger; Heribert Schunkert; Wolfgang Lieb; Andreas Ziegler; Inke König; Michael Preuss

doi:10.1038/ng.327

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Myocardial Infarction Genetics Consortium, Sekar Kathiresan, Benjamin F Voight, Shaun Purcell, Kiran Musunuru, Diego Ardissino, Pier M Mannucci, Sonia Anand, James C Engert, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Muredach P Reilly, Daniel J Rader, Thomas Morgan, John A Spertus, Monika Stoll, Domenico Girelli, Pascal McKeown, Chris C PattersonDavid Siscovick, Christopher J O'Donnell, Roberto Elosua, Leena Peltonen, Veikko Salomaa, Stephen M Schwartz, Olle Melander, David Altshuler, Diego Ardissino, Pier Angelica Merlini, Carlo Berzuini, Luisa Bernardinelli, Flora Peyvandi, Marco Tubaro, Patrizia Celli, Maurizio Ferrario, Raffaela Fetiveau, Heribert Schunkert, Jeanette Erdmann, Wolfgang Lieb, Andreas Ziegler, Inke König, Michael Preuss, Heribert Schunkert, Jeanette Erdmann, Klaus Berger, Heribert Schunkert, Wolfgang Lieb, Andreas Ziegler, Inke König, Michael Preuss

Abstract

We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.

Originalsprache	Englisch
Zeitschrift	Nature Genetics
Jahrgang	41
Ausgabenummer	3
Seiten (von - bis)	334-41
Seitenumfang	8
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.327
Publikationsstatus	Veröffentlicht - 2009

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

Zugriff auf Dokument

10.1038/ng.327

Zitieren

Myocardial Infarction Genetics Consortium, Kathiresan, S., Voight, B. F., Purcell, S., Musunuru, K., Ardissino, D., Mannucci, P. M., Anand, S., Engert, J. C., Samani, N. J., Schunkert, H., Erdmann, J., Reilly, M. P., Rader, D. J., Morgan, T., Spertus, J. A., Stoll, M., Girelli, D., McKeown, P., ... Preuss, M. (2009). Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics, 41(3), 334-41. https://doi.org/10.1038/ng.327

@article{dbf62705914f4008b32ad8a43beb3adc,

title = "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants",

abstract = "We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.",

author = "{Myocardial Infarction Genetics Consortium} and Sekar Kathiresan and Voight, {Benjamin F} and Shaun Purcell and Kiran Musunuru and Diego Ardissino and Mannucci, {Pier M} and Sonia Anand and Engert, {James C} and Samani, {Nilesh J} and Heribert Schunkert and Jeanette Erdmann and Reilly, {Muredach P} and Rader, {Daniel J} and Thomas Morgan and Spertus, {John A} and Monika Stoll and Domenico Girelli and Pascal McKeown and Patterson, {Chris C} and David Siscovick and O'Donnell, {Christopher J} and Roberto Elosua and Leena Peltonen and Veikko Salomaa and Schwartz, {Stephen M} and Olle Melander and David Altshuler and Diego Ardissino and Merlini, {Pier Angelica} and Carlo Berzuini and Luisa Bernardinelli and Flora Peyvandi and Marco Tubaro and Patrizia Celli and Maurizio Ferrario and Raffaela Fetiveau and Heribert Schunkert and Jeanette Erdmann and Wolfgang Lieb and Andreas Ziegler and Inke K{\"o}nig and Michael Preuss and Heribert Schunkert and Jeanette Erdmann and Klaus Berger and Heribert Schunkert and Wolfgang Lieb and Andreas Ziegler and Inke K{\"o}nig and Michael Preuss",

year = "2009",

doi = "10.1038/ng.327",

language = "English",

volume = "41",

pages = "334--41",

journal = "Nature Genetics",

issn = "1061-4036",

number = "3",

}

Myocardial Infarction Genetics Consortium, Kathiresan, S, Voight, BF, Purcell, S, Musunuru, K, Ardissino, D, Mannucci, PM, Anand, S, Engert, JC, Samani, NJ, Schunkert, H, Erdmann, J, Reilly, MP, Rader, DJ, Morgan, T, Spertus, JA, Stoll, M, Girelli, D, McKeown, P, Patterson, CC, Siscovick, D, O'Donnell, CJ, Elosua, R, Peltonen, L, Salomaa, V, Schwartz, SM, Melander, O, Altshuler, D, Ardissino, D, Merlini, PA, Berzuini, C, Bernardinelli, L, Peyvandi, F, Tubaro, M, Celli, P, Ferrario, M, Fetiveau, R, Schunkert, H, Erdmann, J, Lieb, W, Ziegler, A, König, I, Preuss, M, Schunkert, H, Erdmann, J, Berger, K, Schunkert, H, Lieb, W, Ziegler, A, König, I & Preuss, M 2009, 'Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants', Nature Genetics, Jg. 41, Nr. 3, S. 334-41. https://doi.org/10.1038/ng.327

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. / Myocardial Infarction Genetics Consortium; Kathiresan, Sekar; Voight, Benjamin F et al.
in: Nature Genetics, Jahrgang 41, Nr. 3, 2009, S. 334-41.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

T1 - Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

AU - Myocardial Infarction Genetics Consortium

AU - Kathiresan, Sekar

AU - Voight, Benjamin F

AU - Purcell, Shaun

AU - Musunuru, Kiran

AU - Ardissino, Diego

AU - Mannucci, Pier M

AU - Anand, Sonia

AU - Engert, James C

AU - Samani, Nilesh J

AU - Schunkert, Heribert

AU - Erdmann, Jeanette

AU - Reilly, Muredach P

AU - Rader, Daniel J

AU - Morgan, Thomas

AU - Spertus, John A

AU - Stoll, Monika

AU - Girelli, Domenico

AU - McKeown, Pascal

AU - Patterson, Chris C

AU - Siscovick, David

AU - O'Donnell, Christopher J

AU - Elosua, Roberto

AU - Peltonen, Leena

AU - Salomaa, Veikko

AU - Schwartz, Stephen M

AU - Melander, Olle

AU - Altshuler, David

AU - Ardissino, Diego

AU - Merlini, Pier Angelica

AU - Berzuini, Carlo

AU - Bernardinelli, Luisa

AU - Peyvandi, Flora

AU - Tubaro, Marco

AU - Celli, Patrizia

AU - Ferrario, Maurizio

AU - Fetiveau, Raffaela

AU - Schunkert, Heribert

AU - Erdmann, Jeanette

AU - Lieb, Wolfgang

AU - Ziegler, Andreas

AU - König, Inke

AU - Preuss, Michael

AU - Schunkert, Heribert

AU - Erdmann, Jeanette

AU - Berger, Klaus

AU - Schunkert, Heribert

AU - Lieb, Wolfgang

AU - Ziegler, Andreas

AU - König, Inke

AU - Preuss, Michael

PY - 2009

Y1 - 2009

N2 - We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.

AB - We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.

U2 - 10.1038/ng.327

DO - 10.1038/ng.327

M3 - Journal articles

C2 - 19198609

SN - 1061-4036

VL - 41

SP - 334

EP - 341

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Abstract

UN SDGs

Zugriff auf Dokument

Fingerprint

Zitieren