The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects

Simcoe, Mark James; Khawaja, Anthony P; Mahroo, Omar Abdul Rahman; Hammond, Christopher J; Hysi, Pirro G.; Eye, UK Biobank

doi:10.1167/iovs.61.11.20

Cited by 8 publications

(6 citation statements)

References 60 publications

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“…Although the association between CH and glaucoma has been less thoroughly examined in previous literature, multiple studies have demonstrated that CH is strongly associated with glaucoma presence, risk of progression, and effectiveness of certain treatments. [35][36][37][38][39][40][41] Even in patients with glaucoma and well-controlled intraocular pressure, lower CH was associated with a higher risk of global visual field progression. 42 Low CH has also been found to be a risk factor for central visual field progression, which is a major concern for vision-related quality of life.…”

Section: Discussionmentioning

confidence: 99%

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden

Sekimitsu,

Xiang,

Smith

et al. 2023

JAMA Ophthalmol

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ImportanceBetter understanding of primary open-angle glaucoma (POAG) genetics could enable timely screening and promote individualized disease risk prognostication.ObjectiveTo evaluate phenotypic features across genetic burden for POAG.Design, Setting, and ParticipantsThis was a cross-sectional, population-based study conducted from 2006 to 2010. Included participants were individuals from the UK Biobank aged 40 to 69 years. Individuals with non-POAG forms of glaucoma were excluded from the analysis. Data were statistically analyzed from October 2022 to January 2023.Main Outcomes and MeasuresPOAG prevalence based on structural coding, self-reports, and glaucoma-related traits.ResultsAmong 407 667 participants (mean [SD] age, 56.3 [8.1] years; 219 183 majority sex [53.8%]) were 14 171 POAG cases. Area under receiver operating characteristic curve for POAG detection was 0.748 in a model including polygenic risk score (PRS), age, sex, and ancestry. POAG prevalence in the highest decile of PRS was 7.4% (3005 of 40 644) vs 1.3% (544 of 40 795) in lowest decile (P &lt; .001). A 1-SD increase in PRS was associated with 1.74 times higher odds of POAG (95% CI, 1.71-1.77), a 0.61-mm Hg increase in corneal-compensated intraocular pressure (IOP; 95% CI, 0.59-0.64), a −0.09-mm Hg decrease in corneal hysteresis (95% CI, −0.10 to −0.08), a 0.08-mm Hg increase in corneal resistance factor (95% CI, 0.06-0.09), and a −0.08-diopter decrease in spherical equivalent (95% CI, −0.11 to −0.07; P &lt; .001 for all). A 1-SD increase in PRS was associated with a thinning of the macula-region retinal nerve fiber layer (mRNFL) of 0.14 μm and macular ganglion cell complex (GCC) of 0.26 μm (P &lt; .001 for both). In the subset of individuals with fundus photographs, a 1-SD increase in PRS was associated with 1.42 times higher odds of suspicious optic disc features (95% CI, 1.19-1.69) and a 0.013 increase in cup-disc ratio (CDR; 95% CI, 0.012-0.014; P &lt; .001 for both). A total of 22 of 5193 fundus photographs (0.4%) in decile 10 had disc hemorrhages, and 27 of 5257 (0.5%) had suspicious optic disc features compared with 9 of 5158 (0.2%) and 10 of 5219 (0.2%), respectively, in decile 1 (P &lt; .001 for both). CDR in decile 10 was 0.46 compared with 0.41 in decile 1 (P &lt; .001).Conclusion and RelevanceResults suggest that PRS identified a group of individuals at substantially higher risk for POAG. Higher genetic risk was associated with more advanced disease, namely higher CDR and corneal-compensated IOP, thinner mRNFL, and thinner GCC. Associations with POAG PRS and corneal hysteresis and greater prevalence of disc hemorrhages were identified. These results suggest that genetic risk is an increasingly important parameter for risk stratification to consider in clinical practice.

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Section: Discussionmentioning

confidence: 99%

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden

Sekimitsu,

Xiang,

Smith

et al. 2023

JAMA Ophthalmol

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“…2020; Simcoe et al. 2020). For example, in humans and rats, the gene GPM6B may escape X‐inactivation and result in higher intraocular pressure, which could lead to glaucoma (Mirzaei et al.…”

Section: Discussionmentioning

confidence: 99%

“…2020; Simcoe et al. 2020). Additional studies are improving our understanding of differential sex bias expression in mammals (Bwire, 2020; Ytrehus et al.…”

Section: Discussionmentioning

confidence: 99%

Variation and heritability of retinal cone ratios in a free‐ranging population of rhesus macaques

et al. 2022

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A defining feature of catarrhine primates is uniform trichromacy—the ability to distinguish red (long; L), green (medium; M), and blue (short; S) wavelengths of light. Although the tuning of photoreceptors is conserved, the ratio of L:M cones in the retina is variable within and between species, with human cone ratios differing from other catarrhines. Yet, the sources and structure of variation in cone ratios are poorly understood, precluding a broader understanding of color vision variability. Here, we report a large‐scale study of a pedigreed population of rhesus macaques (Macaca mulatta). We collected foveal RNA and analyzed opsin gene expression using cDNA and estimated additive genetic variance of cone ratios. The average L:M ratio and standard error was 1.03:1 ± 0.02. There was no age effect, and genetic contribution to variation was negligible. We found marginal sex effects with females having larger ratios than males. S cone ratios (0.143:1 ± 0.002) had significant genetic variance with a heritability estimate of 43% but did not differ between sexes or age groups. Our results contextualize the derived human condition of L‐cone dominance and provide new information about the heritability of cone ratios and variation in primate color vision.

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“…First, sex could be a potential factor conditioning intraocular pressure due to sex hormones and genetic variants [ 49 , 50 , 51 ]. However, the findings encountered in the scientific literature are not consistent.…”

Section: Discussionmentioning

confidence: 99%

Do Age and Sex Play a Role in the Intraocular Pressure Changes after Acrobatic Gymnastics?

Gené-Morales

Sampedro

Martín-Portugués

et al. 2021

JCM

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To evaluate the effects of an acrobatic gymnastics (AG) training session on intraocular pressure (IOP), a familiarization session was employed to confirm the participant’s suitability for the study. Forty-nine gymnasts (63.27% females, 18–40 years old) voluntarily agreed to participate. As age, sex, baseline IOP, and central corneal thickness (CCT) were considered as potential predictors of the IOP variations, in the second session measurements of the above parameters were taken before and after 90 min of AG. A mixed-factorial analysis of variance evaluated differences. Linear regression was conducted to potentially predict the IOP variation with the exercise. After the scheduled exercise, highly significant (p < 0.001, effect size: 0.73) reductions in IOP, but no significant changes in CCT (p = 0.229), were observed. IOP was significantly modified in males, older than 25 years, and subjects with baseline IOP > 14 mmHg (p ≤ 0.001, effect sizes: 0.57–1.02). In contrast, the IOP of females, younger participants, and subjects with baseline IOP ≤ 14 mmHg was not significantly modified (p = 0.114). With the regression analyses, we concluded that both sex and baseline IOP levels were significant predictors of the IOP fluctuation with AG. These findings could be of interest for gymnasts, coaches, ophthalmologists, and/or optometrists in the prevention and control of risk factors associated with glaucoma.

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The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects

Cited by 8 publications

References 60 publications

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden

Variation and heritability of retinal cone ratios in a free‐ranging population of rhesus macaques

Do Age and Sex Play a Role in the Intraocular Pressure Changes after Acrobatic Gymnastics?

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