Original Article

Genes and Immunity (2009) 10, 421–432; doi:10.1038/gene.2009.24; published online 9 April 2009

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

I Kim1, Y J Kim1, K Kim2, C Kang2, C-B Choi1, Y-K Sung1, H-S Lee1 and S-C Bae1

  1. 1Department of Rheumatology, The Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea
  2. 2Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea

Correspondence: Dr S-C Bae, Department of Rheumatology, The Hospital for Rheumatic Diseases, Hanyang University, Seoul 133-792, Korea. E-mail: scbae@hanyang.ac.kr

Received 30 December 2008; Accepted 13 March 2009; Published online 9 April 2009.

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Abstract

There have been many genetic studies of systemic lupus erythematosus (SLE) in Asia, but the status of SLE in Asia remains unclear. Genes that have been associated with SLE in Caucasians have shown both consistent and inconsistent results in Asians. This prompted us to review studies of SLE-associated genes and compare the degree of consistency according to ethnicity in Asia. We searched PubMed and the national databases in Korea and Japan for SLE genetic studies. A total of 755 articles were found and after applying various exclusion criteria, 442 studies including 17 linkage studies, 2 genome-wide association studies and 423 candidate-gene analyses were reviewed. Nine linkage loci were confirmed to be associated with SLE susceptibility in non-Asians, but the risk locus (16q12) has been identified in only one Asian study. A total of 156 candidate genes were analyzed, of which 92 were studied in Asians. Although there were allelic (HLA-DRB1 and IRF5) or genetic heterogeneity (FCGR gene family), HLA-DRB1, the FCGR gene family, IRF5, STAT4 and MECP2 showed consistent associations with SLE susceptibility across ethnicities. In conclusion, genetic associations often vary with ethnicity, requiring validation in different ethnic groups, and hence future SLE genetic studies will require strong worldwide collaborations.

Keywords:

systemic lupus erythematosus, genetics, Asia

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