Additional file 2: of A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Table S2. Primer list (DOCX 12 kb)

Additional file 3: of A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Table S3. LINKAGE profile of Family 61,254 (XLSX 13 kb)

Additional file 1: of A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Table S1. Primer sequences and PCR conditions of linkage mapping panels, A. Marker specific primers, B. Primers with fluorescent tags, C. Amplification Protocol (DOCX 32 kb)

Additional file 1: of ADAM-17 is a poor prognostic indicator for patients with hilar cholangiocarcinoma and is regulated by FoxM1

Table S1. Primers of selected genes involved in this study. The detailed information of the primers of selected ADAMs in this study. (DOCX 14 kb

Association results of rs1063192 and rs7916697 in different models.

∧<p>One sample did not amplify when this marker was tested.</p>*<p>risk allele, odds ratios are calculated for the minor (protective) allele and genotypes.</p>1<p>Chi-Squared <i>P</i>-value. The Bonferroni corrected significance level was 0.0021 ( = 0.05/24, for 18 allelic tests for individual SNPs and 3 model specific tests for each of 2 SNPs).</p>2<p>Odds ratio.</p>3<p>no individuals were homozygous for the risk allele.</p

Allelic tests of SNPs.

*<p>Minor allele frequencies.</p>†<p>Chi-Squared <i>P</i>-value. The Bonferroni corrected significance level was 0.0021 ( = 0.05/24, for 18 allelic tests for individual SNPs and 3 model specific tests for each of 2 SNPs).</p>‡<p>Hardy–Weinberg equilibrium.</p>∧<p>For markers out of HWE association was also tested using the Cochran-Armitage trend test with no association being shown (P = 0.0573 for rs7037117 and P = 0.5561 for rs7961953).</p

Clinical and demographic characteristics of case and control individuals<b>.</b>

*<p>mm Hg, includes patients receiving therapy.</p

Interaction between rs1063192 and rs7916697.

<p>Logistic regression modeling showed that the joint effects between rs1063192 and rs7916697 were interactive (<i>P</i>-interaction = 2.80E−5).The joint odds ratios were estimated for combinations of protective genotypes of rs1063192 (in the dominant model) or rs7916697 (in the dominant model) compared with the combination of both risk genotypes (homozygous major alleles for both markers).</p

Diagnostic criteria for POAG.

<p>++, most complete classification data; +, less complete but sufficient for classification.</p><p>Those with POAG had a minimum of at least one plus (+) sign in each of the three categories.</p

Sequence chromatograms of the c.493G>C variation identified in family PKCC025.

<p>A) Unaffected individual 7, homozygous for the wild-type allele; B) unaffected individual 8, heterozygous; and C) affected individual 15, homozygous for c.493G>C (p.Gly165Arg). D) Illustration of conservation of Gly165 in mammalian <i>CRYBB3</i> orthologs. Primates, Euarchontoglires, Laurasiatheria, Afrotheria and Mammals are colored brown, green, purple, orange and black respectively.</p