12 research outputs found
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 (−log<sub>10</sub>(<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
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) −log<sub>10</sub>(<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
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
Replication of disease association for <i>WDFY4</i> SNPs in the Hong Kong samples.
<p>Replication of disease association for <i>WDFY4</i> SNPs in the Hong Kong samples.</p