A genome-wide study of lupus

Preliminary analysis and data release

Alessandra C L Cervino, Nicholas Tsinoremas, Robert W. Hoffman

Research output: Chapter in Book/Report/Conference proceedingConference contribution

29 Citations (Scopus)

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which genetics is one of the underlying risk factors. Complicating the analysis of SLE is the fact that the phenotype is heterogeneous, with variations in clinical features, and subgroups are associated with a variety of different autoantibodies. Many association studies of candidate genes as well as linkage studies have generated significant results, highlighting the multigenetic component of the disease. Those findings need to be replicated by independent laboratories and many other genes still remain to be identified. Here, we present our findings on the first genome-wide association study performed in 105 Caucasian patients and controls using the Affymetrix NspI array. The SLE patients studied here were all characterized by the presence of autoantibodies against the U1-6 small nuclear ribonucleoprotein antigen spliceosomal complex. Testing each SNP individually for association with disease, we identified 7 markers with an uncorrected P-value < 0.0001. Of those, three were in reported regions of linkage, namely 20p12, 2q37, and 4p15. To increase the power of our study,we included 60 controls corresponding to the parents from the publicly available CEPH families. The analysis of the 165 cases and controls leads to 28 SNPs being associated with an uncorrected P-value < 0.0001.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Pages131-139
Number of pages9
Volume1110
DOIs
StatePublished - Sep 1 2007
Externally publishedYes

Publication series

NameAnnals of the New York Academy of Sciences
Volume1110
ISSN (Print)00778923
ISSN (Electronic)17496632

Fingerprint

Systemic Lupus Erythematosus
Genes
Genome
Autoantibodies
Single Nucleotide Polymorphism
U1 Small Nuclear Ribonucleoproteins
Small Nuclear Ribonucleoproteins
Nuclear Antigens
Genome-Wide Association Study
Genetic Association Studies
Autoimmune Diseases
Parents
Phenotype
Antigens
Testing
Genetics

Keywords

  • Association
  • Genome-wide
  • Lupus
  • MCTD
  • SLE
  • SNP

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Cervino, A. C. L., Tsinoremas, N., & Hoffman, R. W. (2007). A genome-wide study of lupus: Preliminary analysis and data release. In Annals of the New York Academy of Sciences (Vol. 1110, pp. 131-139). (Annals of the New York Academy of Sciences; Vol. 1110). https://doi.org/10.1196/annals.1423.015

A genome-wide study of lupus : Preliminary analysis and data release. / Cervino, Alessandra C L; Tsinoremas, Nicholas; Hoffman, Robert W.

Annals of the New York Academy of Sciences. Vol. 1110 2007. p. 131-139 (Annals of the New York Academy of Sciences; Vol. 1110).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Cervino, ACL, Tsinoremas, N & Hoffman, RW 2007, A genome-wide study of lupus: Preliminary analysis and data release. in Annals of the New York Academy of Sciences. vol. 1110, Annals of the New York Academy of Sciences, vol. 1110, pp. 131-139. https://doi.org/10.1196/annals.1423.015
Cervino ACL, Tsinoremas N, Hoffman RW. A genome-wide study of lupus: Preliminary analysis and data release. In Annals of the New York Academy of Sciences. Vol. 1110. 2007. p. 131-139. (Annals of the New York Academy of Sciences). https://doi.org/10.1196/annals.1423.015
Cervino, Alessandra C L ; Tsinoremas, Nicholas ; Hoffman, Robert W. / A genome-wide study of lupus : Preliminary analysis and data release. Annals of the New York Academy of Sciences. Vol. 1110 2007. pp. 131-139 (Annals of the New York Academy of Sciences).
@inproceedings{4c87918619f14be4bb3f330d2ab6ef16,
title = "A genome-wide study of lupus: Preliminary analysis and data release",
abstract = "Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which genetics is one of the underlying risk factors. Complicating the analysis of SLE is the fact that the phenotype is heterogeneous, with variations in clinical features, and subgroups are associated with a variety of different autoantibodies. Many association studies of candidate genes as well as linkage studies have generated significant results, highlighting the multigenetic component of the disease. Those findings need to be replicated by independent laboratories and many other genes still remain to be identified. Here, we present our findings on the first genome-wide association study performed in 105 Caucasian patients and controls using the Affymetrix NspI array. The SLE patients studied here were all characterized by the presence of autoantibodies against the U1-6 small nuclear ribonucleoprotein antigen spliceosomal complex. Testing each SNP individually for association with disease, we identified 7 markers with an uncorrected P-value < 0.0001. Of those, three were in reported regions of linkage, namely 20p12, 2q37, and 4p15. To increase the power of our study,we included 60 controls corresponding to the parents from the publicly available CEPH families. The analysis of the 165 cases and controls leads to 28 SNPs being associated with an uncorrected P-value < 0.0001.",
keywords = "Association, Genome-wide, Lupus, MCTD, SLE, SNP",
author = "Cervino, {Alessandra C L} and Nicholas Tsinoremas and Hoffman, {Robert W.}",
year = "2007",
month = "9",
day = "1",
doi = "10.1196/annals.1423.015",
language = "English",
isbn = "1573317098",
volume = "1110",
series = "Annals of the New York Academy of Sciences",
pages = "131--139",
booktitle = "Annals of the New York Academy of Sciences",

}

TY - GEN

T1 - A genome-wide study of lupus

T2 - Preliminary analysis and data release

AU - Cervino, Alessandra C L

AU - Tsinoremas, Nicholas

AU - Hoffman, Robert W.

PY - 2007/9/1

Y1 - 2007/9/1

N2 - Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which genetics is one of the underlying risk factors. Complicating the analysis of SLE is the fact that the phenotype is heterogeneous, with variations in clinical features, and subgroups are associated with a variety of different autoantibodies. Many association studies of candidate genes as well as linkage studies have generated significant results, highlighting the multigenetic component of the disease. Those findings need to be replicated by independent laboratories and many other genes still remain to be identified. Here, we present our findings on the first genome-wide association study performed in 105 Caucasian patients and controls using the Affymetrix NspI array. The SLE patients studied here were all characterized by the presence of autoantibodies against the U1-6 small nuclear ribonucleoprotein antigen spliceosomal complex. Testing each SNP individually for association with disease, we identified 7 markers with an uncorrected P-value < 0.0001. Of those, three were in reported regions of linkage, namely 20p12, 2q37, and 4p15. To increase the power of our study,we included 60 controls corresponding to the parents from the publicly available CEPH families. The analysis of the 165 cases and controls leads to 28 SNPs being associated with an uncorrected P-value < 0.0001.

AB - Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which genetics is one of the underlying risk factors. Complicating the analysis of SLE is the fact that the phenotype is heterogeneous, with variations in clinical features, and subgroups are associated with a variety of different autoantibodies. Many association studies of candidate genes as well as linkage studies have generated significant results, highlighting the multigenetic component of the disease. Those findings need to be replicated by independent laboratories and many other genes still remain to be identified. Here, we present our findings on the first genome-wide association study performed in 105 Caucasian patients and controls using the Affymetrix NspI array. The SLE patients studied here were all characterized by the presence of autoantibodies against the U1-6 small nuclear ribonucleoprotein antigen spliceosomal complex. Testing each SNP individually for association with disease, we identified 7 markers with an uncorrected P-value < 0.0001. Of those, three were in reported regions of linkage, namely 20p12, 2q37, and 4p15. To increase the power of our study,we included 60 controls corresponding to the parents from the publicly available CEPH families. The analysis of the 165 cases and controls leads to 28 SNPs being associated with an uncorrected P-value < 0.0001.

KW - Association

KW - Genome-wide

KW - Lupus

KW - MCTD

KW - SLE

KW - SNP

UR - http://www.scopus.com/inward/record.url?scp=35748936771&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=35748936771&partnerID=8YFLogxK

U2 - 10.1196/annals.1423.015

DO - 10.1196/annals.1423.015

M3 - Conference contribution

SN - 1573317098

SN - 9781573317092

VL - 1110

T3 - Annals of the New York Academy of Sciences

SP - 131

EP - 139

BT - Annals of the New York Academy of Sciences

ER -