Association between <i>NOS1</i> gene expression and its SNPs associated with RP.

<p>Association between <i>NOS1</i> gene expression and its SNPs associated with RP.</p

Characteristics of sample.

<p>Characteristics of sample.</p

Single nucleotide polymorphisms statistically significantly associated with RP.

<p>Single nucleotide polymorphisms statistically significantly associated with RP.</p

Demographic and phenotypic profile of study sample with speech-to-noise ratio data.

<p>Test participants for the SNR test were described by zygosity (MZ, DZ, singletons), sample size (n), sex (male (M), female (F)) of participants, mean age with standard deviation (SD) and the age range. Mean speech-to-noise ratios (SNR) are given with minimal (min SNR) and maximal (max SNR) values.</p

Ranking of pure-tone audiogram phenotypes.

<p>Pure-tone audiogram phenotypes were ranked according to their correlation with age (Pearson’s correlation coefficient) and representation of audiogram shape (measured as proportion of variance shared with PC2). Ranks are given in square brackets.</p

Results of bivariate variance component modelling.

<p>Graphical presentation of bivariate variance modelling results for PC1–PC2 &SNR (Panel A) and PTA & SNR (Panel B). Univariate heritability (A) and unique environmental factor (E) estimates are given separately for each trait. Correlation between these factors are given by r(a²) and r(e²), respectively.</p

Receiver operating curve for SNR in comparison to PTA>40 dB.

<p>The receiver operating curve plots the specificity versus the sensitivity of the Speech-to-noise ratio in comparison to hearing ability measured by the pure-tone average >40 dB.</p

Receiver operating curve of SNR in comparison to PC1–PC2>3.4.

<p>The receiver operating curve plots the specificity versus the sensitivity of the Speech-to-noise ratio in comparison to hearing ability measured by a (PC1–PC2) >3.4.</p

Demographic and phenotypic profile of study sample with pure-tone audiogram data.

<p>The study sample was separated into monozygotic twins (MZ), dizygotic twins (DZ) and singletons. Each group was further described by its sample size (n), age-range, mean age, pure-tone average (PTA), principal component 1 (PC1), principal component 2 (PC2) as well as their difference (PC1–PC2) and better ear hearing level threshold (BEHL) values. Measurements for the mean age, pure-tone average and principle components are given as mean with standard deviation (SD).</p

Results of epigenome wide association of hearing PC1 for discovery and replication samples and their meta-analysis.

<p>The ten most highly associated differentially methylated regions in the discovery EWAS (27 k) are shown. Probes are characterised by the nearest gene, the association effect (beta), standard error of the effect (se) and significance of model fit (p-value). Significance of model fit excluding age as a model parameter (p-value (no age)) is reported for both the discovery (27 k) and replication (450 k) sample. The ten most highly associated probes were taken forward for replication (450 k) with effect (beta) standard error of the effect and significance of model fit (p-value) listed. Results of the meta-analysis are presented as direction of effect (dir, discovery and replication direction shown), combined effect (beta), standard error of the combined effect (se) and significance of the combined association (p-value). Association of DNA methylation and hearing PC1 was replicated for probes cg01161216 and cg18877514 (highlighted in bold).</p><p>Results of epigenome wide association of hearing PC1 for discovery and replication samples and their meta-analysis.</p