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Nat Genet. 2016 Aug;48(8):940-946. doi: 10.1038/ng.3603. Epub 2016 Jul 11.

Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

Author information

1
Division of Genetics and Molecular Medicine, King's College London, London, UK.
2
Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.
3
Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
4
Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
5
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong.
6
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
7
Department of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
8
Department of Internal Medicine 3, University of Erlangen-Nuremberg, Erlangen, Germany.
9
Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany.
10
Division of Genetic Epidemiology, Medical University Innsbruck, Innsbruck, Austria.
11
Division of Biological Chemistry, Medical University Innsbruck, Innsbruck, Austria.
12
Department of Rheumatology, University Hospital Freiburg, Freiburg, Germany.
13
Department of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany.
14
Centre for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany.
15
AP-HP, Hôpital Cochin, Centre de référence maladies auto-immunes et systémiques rares, Paris, France.
16
Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
17
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
18
The University of Hong Kong Shenzhen Hospital, Shenzhen, China.
19
Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
20
Division of Immunology, Infection and Inflammatory Disease, King's College London, London, UK.
#
Contributed equally

Abstract

Systemic lupus erythematosus (SLE; OMIM 152700) is a genetically complex autoimmune disease. Genome-wide association studies (GWASs) have identified more than 50 loci as robustly associated with the disease in single ancestries, but genome-wide transancestral studies have not been conducted. We combined three GWAS data sets from Chinese (1,659 cases and 3,398 controls) and European (4,036 cases and 6,959 controls) populations. A meta-analysis of these studies showed that over half of the published SLE genetic associations are present in both populations. A replication study in Chinese (3,043 cases and 5,074 controls) and European (2,643 cases and 9,032 controls) subjects found ten previously unreported SLE loci. Our study provides further evidence that the majority of genetic risk polymorphisms for SLE are contained within the same regions across both populations. Furthermore, a comparison of risk allele frequencies and genetic risk scores suggested that the increased prevalence of SLE in non-Europeans (including Asians) has a genetic basis.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT00413361.

PMID:
27399966
PMCID:
PMC4966635
DOI:
10.1038/ng.3603
[Indexed for MEDLINE]
Free PMC Article

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