Confirmation of association of <i>HLA</i> locus, and <i>TNFSF4</i>, <i>STAT4</i>, <i>TNFAIP3</i>, <i>IRF5</i>, <i>BLK</i> with SLE.

<p>Shown are association results comparing SLE patients with controls collected in Hong Kong analyzed by Plink (−log₁₀(<i>P</i>-value) of SNPs). The best SNP in Chromosome 11 is around <i>ETS1</i> gene (rs6590330), which is in high LD with rs1128334. And the best SNP in Chromosome 10 is in <i>WDFY4</i> (rs877819).</p

Linkage disequilibrium and sequence conservation of SNPs in <i>ETS1</i>.

<p>Shown are LD for significant SNPs in and around <i>ETS1</i> detected by GWAS (A), and replicated SNPs in the 3′-UTR and downstream of the gene (B), and sequence conservation for sequences around SNP rs1128334 among different species (C).</p

Confirmation of susceptibility genes in the Hong Kong Chinese population by GWAS.

<p>A1: minor allele; F_A: minor allele frequency in cases; F_U: minor allele frequency in controls.</p

SNPs in and around <i>ETS1</i> and <i>WDFY4</i> that showed significant association with SLE in the GWAS data.

<p>SNPs in and around <i>ETS1</i> and <i>WDFY4</i> that showed significant association with SLE in the GWAS data.</p

Involvement of <i>ETS1</i> in Th17 cell and B lymphocyte development and autoimmunity.

<p>Involvement of <i>ETS1</i> in Th17 cell and B lymphocyte development and autoimmunity.</p

Allelic expression of <i>ETS1</i> on SNP rs1128334 in PBMC of healthy individuals.

<p>PBMC cDNA processed from 33 healthy individuals heterozygous on rs1128334 were used for allelic expression detection of <i>ETS1</i> by pyrosequencing. (A) A case example of detection on the “A” allele and the “G” allele from both DNA and cDNA samples from the same individual. (B) The ratio of G/A allelic detection for both DNA and cDNA samples. The median G/A ratio for DNA is 1.09 (95% CI: 1.08–1.11) and the median G/A ratio for cDNA expression is 1.32 (95% CI: 1.21–1.43), <i>P</i><0.0001 by paired student's <i>t</i> test.</p

Quantile-Quantile plot of expected (x-axis) and observed (y-axis) −log₁₀(<i>P</i> value) distribution in our GWAS analysis.

<p>(A) Considering all the available SNPs. (B) SNPs in and around <i>HLA locus</i>, and <i>TNFSF4</i>, <i>STAT4</i>, <i>TNFAIP3</i>, <i>IRF5</i>, <i>BLK</i>, as well as <i>BANK1</i> were excluded from analysis.</p

LD among <i>WDFY4</i> SNPs examined in this study (A) and sequence conservation of the three nonsynonymous variations among various species (B).

<p>LD among <i>WDFY4</i> SNPs examined in this study (A) and sequence conservation of the three nonsynonymous variations among various species (B).</p

<i>ETS1</i> Haplotype analysis on SLE association.

<p><i>ETS1</i> Haplotype analysis on SLE association.</p

SNPs showed significant association with SLE in a joint analysis of four independent Asian cohorts.

<p>SNPs showed significant association with SLE in a joint analysis of four independent Asian cohorts.</p