Additional file 2: Table S1. of Association between long interspersed nuclear element-1 methylation levels and relapse in Wilms tumors

Updated clinical data and methylation mean of the 5 LINE-1 sites of each patient. (DOCX 33 kb

Additional file 1: Figure S1. of Association between long interspersed nuclear element-1 methylation levels and relapse in Wilms tumors

LINE-1 methylation pyrograms of representative samples. (A) Normal kidney; (B) Wilms tumor. Five CpG sites were evaluated in the LINE-1 promoter sequence. Arrows indicate internal controls for bisulfite conversion. (TIFF 416 kb

The GO terms for differentially methylated genes between cases (HbSS and HbSC) and controls groups.

GALR2, PTGFR, ADCY4.</p

Consort diagram showing the 40 cases of diffuse anaplastic Wilms tumour used for the survival analysis by <i>TP53</i> mutation and/or 17p loss.

<p>Consort diagram showing the 40 cases of diffuse anaplastic Wilms tumour used for the survival analysis by <i>TP53</i> mutation and/or 17p loss.</p

Fig 4 -

(A) The distribution of hyper DMPs and hypo DMPs according to their distance from the promoter. TSS1500, 200 to 1500 base pairs upstream of the transcription start site (TSS); TSS200, 200 base pairs upstream of the TSS; 5′UTR, 5′ untranslated region; 1st Exon; 3′UTR, 3′ untranslated region. (B) The distribution of hyper DMPs and hypo DMPs in different genomic region types. Island, a CpG site located within a CpG island; Shore, a CpG site located Shelf, a CpG site located > 2 kilobases from a CpG island; Open sea, a CpG site not in an island or annotated gene. Data of DMPs obtained from the comparison between HbSS vs Control groups. *: group of DMPs (hyper or hypomethylated) statistically more frequent in a specific region (p<0.05; chi-square distribution test).</p

Correlation analyses for array and pyrosequencing methylation data.

Correlation analyses for array and pyrosequencing methylation data.</p

Clinical characteristics, maternal and perinatal outcomes among cases (HbSS and HbSC) and controls.

Clinical characteristics, maternal and perinatal outcomes among cases (HbSS and HbSC) and controls.</p

Variants with unknown function in cases with 17p loss.

<p>MAF: minor allele frequency (source: dbSNP).</p><p>Variants with unknown function in cases with 17p loss.</p

Expression levels of genes in the HbSS and HbSC groups compared with the control group (CON).

A: Genes assessed in the HbSS group. i PTGFR; ii GPR56; iii GALR2 and iv ADCY4. B: Genes evaluated in the HbSC group. i SPOCK1; ii THSD7A and iii ADCY4. *pU test, (b) Student’s unpaired t test.</p

Gross evaluation of one selected placenta from each of the three groups of patients considered: HbSS, HbSC and HbAA (without SCD).

Fetal (A) and maternal (B) sides of the placenta from a HbSS patient with a term cesarean delivery (37 week gestation) with multiple hospital admissions for worsening anemia and previous exchange transfusion at 28 weeks. Fetal (C) and maternal (D) sides of the placenta from a HbSC patient, also delivered by cesarean at term, due to maternal request (37 weeks) with programmed blood transfusions during third trimester and no severe complications. Fetal (E) and maternal (F) sides of the placenta from a patient without SCD, delivered at 39 weeks, by Cesarean section due to 2 previous cesareans. In the HbSS and HbSC placentas it is possible to observe increased subchorionic fibrin deposition and calcifications (non-specific alterations). For methylation analysis, villous tissue was sampled.</p