Density of complex ocular traits in 100 consecutive patients age 60 or older arranged by presenting diagnosis.

<p>Density of complex ocular traits in 100 consecutive patients age 60 or older arranged by presenting diagnosis.</p

Odds-ratio for association between genotypes and traits that might be detected with a power of 0.8 at the specified minor allele frequency.

*<p>Abbreviations and definitions are given in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0002510#pone-0002510-t001" target="_blank">Table 1</a>.</p>**<p>Power was estimated assuming a log-additive genetic model, significance levels of 0.05, 0.001, and 0.00001, complete linkage disequilibrium between the single nucleotide polymorphism (SNP) studied and the genetic variant underlying the association, and the population prevalence estimates shown in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0002510#pone-0002510-t001" target="_blank">Table 1</a>.</p>***<p>The three significance levels, namely 0.05, 0.001, and 0.00001, refer to testing one variant, multiple variants in a single gene, and variants across the genome, respectively.</p

Genomic Southern Blot of DNA samples from normal control (lanes 1, 4, 7 and 8) and FECD patients (lanes 2, 3, 5, 6, 9–11).

<p>Lanes 12 and 13 are laboratory control samples that have not been evaluated for FECD. Note that the samples in lanes 2, 3 and 6 are from FECD patients that do not have the repeat expansion. The samples in lanes 5, 9, and 10 are samples from FECD cases with repeat expansion over 1500 repeats. Lane L contains sizing standards.</p

A comparison of TGC repeat length in TCF4 between FECD cases and normal controls.

*<p>p<0.001 for FECD cases vs. controls by Fisher's exact test.</p

DNA sequence surrounding the trinucleotide repeat in the intron of the <i>TCF4</i> gene on chromosome 18.

<p>The trinucleotide repeat region is shown in red, and PCR primer sequences used for sizing the repeat region are underlined. This version of the sequence comes from the human reference sequence and contains 25 TGC repeats.</p

Sanger DNA sequencing of DNA samples of a normal control (A) and a FECD patient with two expanded alleles (B).

<p>Sanger DNA sequencing of DNA samples of a normal control (A) and a FECD patient with two expanded alleles (B).</p

Frequency histogram of the TGC repeat length of the longest allele in all 129 samples.

<p>The length of the longest repeat in each sample is shown for both FECD patients (black bars) and normal control subjects (open bars). Note that 3 FECD patients had very long repeat expansions (more than 1500 repeats), as shown in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0049083#pone-0049083-g004" target="_blank">Figure 4</a>.</p

STR analysis of PCR amplicons of 3 normal control (A) and 3 FECD patients (B).

<p>The bottom panel is the analysis of a FECD patient with 2 expanded alleles.</p

Multivariable Logistic Regression Model for Diastolic Dysfunction (AUC = 0.828).

<p>OR: odds ratio; LCL: lower 95% confidence limit; UCL: upper 95% confidence limit.</p

Circulating Natriuretic Peptide Level in the Study Population According to the rs2270915 Genotype.

*<p>Adjusted for age, sex, body mass index, hypertension, diastolic dysfunction.</p