PDF(Pubmed)
Abstract：
The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the prevalence case wise concordance between monozygotic and dizygotic twin pairs, and heritability of common VMI abnormalities, including epiretinal membrane (ERM), posterior vitreous detachment (PVD), vitreomacular adhesion (VMA), vitreomacular traction (VMT), lamellar macular holes (LMHs), and full-thickness macular holes (FTMHs).
This is a single-center, cross-sectional classical twin study of 3406 TwinsUK participants over the age of 40 years who underwent spectral domain macular optical coherence tomography (SD-OCT) scans which were graded for signs of VMI abnormalities. Case wise concordance was calculated and the heritability of each VMI abnormality was estimated using OpenMx structural equation modeling.
In this population (mean age = 62.0 years [SD = 10.4 years], range = 40-89 years) the overall prevalence of ERM was 15.6% (95% confidence interval [CI] = 14.4-16.9) and increased with age, posterior vitreous detachment affected 21.3% (20.0-22.7), and VMA was diagnosed in 11.8% (10.8-13.0). Monozygotic twins were more concordant for all traits than dizygotic twins, and age, spherical equivalent refraction (SER), and lens status-adjusted heritability was estimated at 38.9% (95% CI = 33.6-52.8) for ERM, 53.2% (95% CI = 41.8-63.2) for PVD, and 48.1% (95% CI = 33.6-58) for VMA.
Common VMI abnormalities are heritable and therefore have an underlying genetic component. Given the sight-threatening potential of VMI abnormalities, further genetic studies, such as genomewide association studies, would be useful to identify genes and pathways implicated in their pathogenesis.
This is a single-center, cross-sectional classical twin study of 3406 TwinsUK participants over the age of 40 years who underwent spectral domain macular optical coherence tomography (SD-OCT) scans which were graded for signs of VMI abnormalities. Case wise concordance was calculated and the heritability of each VMI abnormality was estimated using OpenMx structural equation modeling.
In this population (mean age = 62.0 years [SD = 10.4 years], range = 40-89 years) the overall prevalence of ERM was 15.6% (95% confidence interval [CI] = 14.4-16.9) and increased with age, posterior vitreous detachment affected 21.3% (20.0-22.7), and VMA was diagnosed in 11.8% (10.8-13.0). Monozygotic twins were more concordant for all traits than dizygotic twins, and age, spherical equivalent refraction (SER), and lens status-adjusted heritability was estimated at 38.9% (95% CI = 33.6-52.8) for ERM, 53.2% (95% CI = 41.8-63.2) for PVD, and 48.1% (95% CI = 33.6-58) for VMA.
Common VMI abnormalities are heritable and therefore have an underlying genetic component. Given the sight-threatening potential of VMI abnormalities, further genetic studies, such as genomewide association studies, would be useful to identify genes and pathways implicated in their pathogenesis.
摘要：
■遗传因素在常见玻璃体黄斑界面（VMI）异常中的相对重要性尚不清楚。这项经典双胞胎研究的目的是确定单卵和二卵双胞胎对之间的患病率，以及常见VMI异常的遗传力，包括视网膜前膜（ERM），玻璃体后脱离(PVD),玻璃体黄斑粘连(VMA),玻璃体黄斑牵引(VMT),层状黄斑孔（LMHs），和全厚度黄斑裂孔（FTMHs）。
■这是一个单中心，对3406名年龄超过40岁的TwinsUK参与者进行了横断面经典双胞胎研究,这些参与者接受了谱域黄斑光学相干断层扫描(SD-OCT)扫描,并对VMI异常征象进行了分级.计算病例一致性，并使用OpenMx结构方程模型估计每个VMI异常的遗传力。
■在该人群中（平均年龄=62.0岁[SD=10.4岁]，范围=40-89岁）ERM的总体患病率为15.6％（95％置信区间[CI]=14.4-16.9），并随年龄增加而增加，玻璃体后脱离影响21.3％（20.0-22.7），VMA诊断为11.8%(10.8-13.0)。同卵双胞胎比同卵双胞胎在所有性状上更一致，和年龄,球面等效折射（SER），ERM的晶状体状态调整遗传力估计为38.9%(95%CI=33.6-52.8)，PVD为53.2%（95%CI=41.8-63.2），VMA为48.1%（95%CI=33.6-58）。
■常见的VMI异常是可遗传的，因此具有潜在的遗传成分。鉴于VMI异常的潜在视力威胁,进一步的遗传研究，例如全基因组关联研究，将有助于鉴定与它们的发病机理有关的基因和途径。
■这是一个单中心，对3406名年龄超过40岁的TwinsUK参与者进行了横断面经典双胞胎研究,这些参与者接受了谱域黄斑光学相干断层扫描(SD-OCT)扫描,并对VMI异常征象进行了分级.计算病例一致性，并使用OpenMx结构方程模型估计每个VMI异常的遗传力。
■在该人群中（平均年龄=62.0岁[SD=10.4岁]，范围=40-89岁）ERM的总体患病率为15.6％（95％置信区间[CI]=14.4-16.9），并随年龄增加而增加，玻璃体后脱离影响21.3％（20.0-22.7），VMA诊断为11.8%(10.8-13.0)。同卵双胞胎比同卵双胞胎在所有性状上更一致，和年龄,球面等效折射（SER），ERM的晶状体状态调整遗传力估计为38.9%(95%CI=33.6-52.8)，PVD为53.2%（95%CI=41.8-63.2），VMA为48.1%（95%CI=33.6-58）。
■常见的VMI异常是可遗传的，因此具有潜在的遗传成分。鉴于VMI异常的潜在视力威胁,进一步的遗传研究，例如全基因组关联研究，将有助于鉴定与它们的发病机理有关的基因和途径。
