We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 × 10−25 ≤ Pcombined ≤ 2.77 × 10−8) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 × 10−42 ≤ Pcombined ≤ 5.18 × 10−12). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.
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We thank all study participants. This study was funded by the National Natural Science Foundation (30972727), the Key Project of National Natural Science Foundation (30530670 and 30830089), the Anhui Provincial Special Scientific Program (2007-7) and the Anhui Skin Genetic Study Innovative Research Team Program (TD200701).
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Han, JW., Zheng, HF., Cui, Y. et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 41, 1234–1237 (2009). https://doi.org/10.1038/ng.472
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