Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

Timothy R.D.J. Radstake; Behrooz Z. Alizadeh; Rogelio Palomino-Morales; Jasper C.A. Broen; Jose-Ezequiel Martin; Ruben T. Slot; Carmen Simeon

doi:10.1002/art.26336

Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

Timothy R.D.J. Radstake, Behrooz Z. Alizadeh, Rogelio Palomino-Morales, Jasper C.A. Broen, Jose-Ezequiel Martin, Ruben T. Slot, Carmen Simeon

Research output: Contribution to journal › Meeting Abstract › Academic

Abstract

Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P

Original language	English
Pages (from-to)	1262
Number of pages	1
Journal	Arthritis & Rheumatism
Volume	60
Issue number	s10
DOIs	https://doi.org/10.1002/art.26336
Publication status	Published - 1-Jan-2009
Event	The ACR/ARHP Annual Scientific Meeting Philadelphia - Philadelphia, United States Duration: 16-Oct-2009 → 21-Oct-2009

Keywords

STAT4 protein
rheumatology
genome
systemic sclerosis
college
health practitioner
gene
Caucasian
deregulation
pathogenesis
autoimmune disease
skin
disability
death
fibrosis
genetic trait
genetic association
human
phenotype
female
risk factor
population
stratification
heredity

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@article{865259e3d2e54c7bb386a1daa91e000d,

title = "Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32",

abstract = "Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P",

keywords = "STAT4 protein, rheumatology, genome, systemic sclerosis, college, health practitioner, gene, Caucasian, deregulation, pathogenesis, autoimmune disease, skin, disability, death, fibrosis, genetic trait, genetic association, human, phenotype, female, risk factor, population, stratification, heredity",

author = "Radstake, {Timothy R.D.J.} and Alizadeh, {Behrooz Z.} and Rogelio Palomino-Morales and Broen, {Jasper C.A.} and Jose-Ezequiel Martin and Slot, {Ruben T.} and Carmen Simeon",

year = "2009",

month = jan,

day = "1",

doi = "10.1002/art.26336",

language = "English",

volume = "60",

pages = "1262",

journal = "Arthritis & Rheumatism",

issn = "0004-3591",

publisher = "John Wiley and Sons Inc.",

number = "s10",

note = "The ACR/ARHP Annual Scientific Meeting Philadelphia ; Conference date: 16-10-2009 Through 21-10-2009",

}

TY - JOUR

T1 - Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

AU - Radstake, Timothy R.D.J.

AU - Alizadeh, Behrooz Z.

AU - Palomino-Morales, Rogelio

AU - Broen, Jasper C.A.

AU - Martin, Jose-Ezequiel

AU - Slot, Ruben T.

AU - Simeon, Carmen

PY - 2009/1/1

Y1 - 2009/1/1

N2 - Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P

AB - Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P

KW - STAT4 protein

KW - rheumatology

KW - genome

KW - systemic sclerosis

KW - college

KW - health practitioner

KW - gene

KW - Caucasian

KW - deregulation

KW - pathogenesis

KW - autoimmune disease

KW - skin

KW - disability

KW - death

KW - fibrosis

KW - genetic trait

KW - genetic association

KW - human

KW - phenotype

KW - female

KW - risk factor

KW - population

KW - stratification

KW - heredity

U2 - 10.1002/art.26336

DO - 10.1002/art.26336

M3 - Meeting Abstract

SN - 0004-3591

VL - 60

SP - 1262

JO - Arthritis & Rheumatism

JF - Arthritis & Rheumatism

IS - s10

T2 - The ACR/ARHP Annual Scientific Meeting Philadelphia

Y2 - 16 October 2009 through 21 October 2009

ER -

Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

Abstract

Keywords

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