Baseline ocular and systemic parameters.

<p>HLAB27 AAU = HLAB27 associated acute anterior uveitis</p><p>IU = intermediate uveitis</p><p>SD = standard deviation</p><p>Values are n (%) unless otherwise indicate.</p><p>Baseline ocular and systemic parameters.</p

Distribution of the investigated gene polymorphisms in patients and controls.

<p>HLAB27 AAU = HLAB27 associated acute anterior uveitis</p><p>IU = intermediate uveitis</p><p>* compared with HLAB27 negative controls</p><p>^† compared with HLAB27 positive controls</p><p>^‡ compared with HLAB27 negative controls and HLAB27 positive controls combined.</p><p>Distribution of the investigated gene polymorphisms in patients and controls.</p

Baseline Ocular and Systemic Parameters.

<p>SD = Standard Deviation</p><p>Values are n (%) unless otherwise indicated.</p

Demographic Characteristics of Patients and Controls.

<p>AAU = Acute Anterior Uveitis</p><p>SD = Standard Deviation</p><p>Values are n (%) unless otherwise indicated. The mean age for the patient group states the age of onset of the disease.</p

Distribution of the rs703842 A>G Gene Polymorphism in Patients and Controls.

<p>AAU = Acute Anterior Uveitis, OR = Odds Ratio, CI = Confidence Interval, Values are n (%) unless otherwise indicated.</p>*<p>HLA-B27-associated patients vs. HLA-B27-negative control subjects <b><i>p</i></b> = 0.97* (OR = 1.01, 95% CI 0.70–1.46)</p>**<p>HLA-B27-associated patients vs. HLA-B27-positive control subjects <i>p</i> = 0.03** (OR = 0.62, 95% CI 0.41–0.94)</p

Frequent Down Regulation of the Tumor Suppressor Gene A20 in Multiple Myeloma

<div><p>Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely understood. Since A20 (<i>TNFAIP3</i>) is a suppressor of the NF-κB pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients.</p></div

Genetic aberrations of A20 in multiple myeloma.

<p><b>a: Electropherogram of rs368271377 in exon 7:</b> Arrows indicate the single base pair substitution. <b>b: Electropherogram of rs143002189 in exon 9:</b> The arrow indicates the single base pair substitution. <b>c: Gene copy number analysis of A20 of selected cases:</b> For the gene copy number assays two technical replicates of each samples were used. The blue bar represents the data for exon 4 and the red one for exon 6. Each bar represents the mean values of expression levels ± standard deviation (SD). Cut off for deletion—depicted as red line—was set at 0.7 through the fact that samples exhibited up to 40% non-neoplastic surrounding tissue. <b>d: Representative immunohistochemical A20 staining of multiple myeloma samples.</b> i and ii: multiple myeloma samples with reduced A20 gene copy number. iii and iv: multiple myeloma samples with normal A20 gene copy number.</p

mRNA expression analysis of A20 and 7 NF-κB target genes (BCL2, Cyclin D1, CCR7, CD44, CXCR2, cFlip, IRF4) of MM cases with (n = 6) and without (n = 14) monoallelic A20 deletions and of non-neoplastic bone marrow biopsies (BM; n = 6).

<p>mRNA expression levels were calculated as relative expression in comparison with peripheral mononucleated cells serving as a calibrator. Each bar represents the mean values of expression levels ± standard deviation (SD). The comparison of the expression levels was performed by using the Mann-Whitney U test; all significant associations were corrected for multiple testing by applying a Bonferroni correction.</p

Association between <i>COLIA1</i> Alleles and BMD

<p>Differences in BMD (in mg/cm²) for the contrasts of GG homozygotes versus GT heterozygotes are shown in the top panel and those for GG and GT combined versus TT homozygotes in the bottom panel. For each study, the point estimates and 95% CIs for the differences in BMD in the lumbar spine (blue) and femoral neck (green) are shown. The figures are purposely drawn putting data on the two skeletal sites side by side in each center for comparison. Summary estimates of the differences and their 95% CIs are given by random effects models for male (M), female (F), and all participants (total). Fixed effects estimates are very similar (not shown). Filled circles represent summary estimates. </p

Association between <i>COLIA1</i> Alleles and Fractures

<p>OR for fractures in co-dominant models (per T allele) for (A) fracture at any site; (B) vertebral fracture; and (C) incident vertebral fracture. Point estimates and 95% CIs are shown for the ORs in each study. Summary estimates of the ORs and their 95% CIs (diamonds) are given by random effects models per gender and for the total database.</p