An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

The aim of the study was to interrogate the genetic architecture and autoimmune pleiotropy of scleroderma susceptibility in the Australian population. We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single...

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Bibliographic Details
Published in:Arthritis research & therapy 2014-10, Vol.16 (5), p.438-438, Article 438
Main Authors: Zochling, Jane, Newell, Felicity, Charlesworth, Jac C, Leo, Paul, Stankovich, Jim, Cortes, Adrian, Zhou, Yuan, Stevens, Wendy, Sahhar, Joanne, Roddy, Janet, Nash, Peter, Tymms, Kathleen, Rischmueller, Maureen, Lester, Sue, Proudman, Susanna, Brown, Matthew A
Format: Article
Language:English
Subjects:
Analysis
Antibodies
Autoantibodies - immunology
Biotechnology industry
Centromere - immunology
Cohort Studies
Development and progression
Diagnosis
Disease susceptibility
Endodeoxyribonucleases - genetics
Female
Gene Frequency
Genetic aspects
Genetic Pleiotropy
Genetic Predisposition to Disease - genetics
Genotype
Humans
Linkage Disequilibrium
Logistic Models
Lupus
Male
Medical research
Medicine, Experimental
Middle Aged
Odds Ratio
Pilot Projects
Polymorphism, Single Nucleotide
Scleroderma, Systemic - genetics
Scleroderma, Systemic - immunology
Viral antibodies
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Summary:The aim of the study was to interrogate the genetic architecture and autoimmune pleiotropy of scleroderma susceptibility in the Australian population. We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single nucleotide polymorphisms (SNPs) at immune loci. Controls were taken from the 1958 British Birth Cohort. After data cleaning and adjusting for population stratification the final dataset consisted of 486 cases, 4,458 controls and 146,525 SNPs. Association analyses were conducted using logistic regression in PLINK. A replication study was performed using 833 cases and 1,938 controls. A total of eight loci with suggestive association (P
ISSN:1478-6354
1478-6362
1478-6354
DOI:10.1186/s13075-014-0438-8