A twin study of cilioretinal arteries, tilted discs and situs inversus.
A twin study of cilioretinal arteries, tilted discs and situs inversus.
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DOI：
10.1007/s00417-017-3859-7
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Hammond CJ
中科院分区：
文献类型：
--
作者：
Baneke AJ;Williams KM;Mahroo OA;Mohamed M;Hammond CJ
目的：探讨睫状视网膜动脉（CRA）、椎间盘倾斜（TD）和反位（SI）的患病率和遗传度。分析了来自Twins UK成人双胞胎登记双胞胎数据库的眼底照片：1812个个体，526个完全同卵（MZ）双胞胎对和336个完全异卵（DZ）双胞胎对。由同一眼科医生在计算机屏幕上对图像进行非立体评估，以确定是否存在CRA、TD或SI。计算患病率、先证者一致性和遗传力。受试者右眼CRA的患病率为28.6%（26.5-30.8）。受试者至少一只眼睛有CRA的患病率为45.0%（42.6-47.5），至少一只眼睛有TD的患病率为1.2%（0.8-1.9），至少一只眼睛有SI的患病率为0.5%（0.3-1.0）。出生体重和CRA的存在之间没有关联。至少一只眼睛（MZ双胞胎）中CRA的一致性为60%（95% CI 55-64），（DZ）为45%（95% CI 39-51）。至少一只眼睛CRA的遗传度为49.4%（95% CI 38.1-59.7），双眼CRA的遗传度为32.9%（95% CI 10.4-53.3）。由于数量不足，我们无法计算TD和部位SI的有意义的遗传力或一致性。CRA的存在似乎是适度遗传的，个体环境因素甚至随机事件解释了更大的方差。它们与低出生体重无关。未来的遗传学研究和出生/生命历程队列研究可能会提供进一步的见解先天性乳头血管畸形的病因。本文的在线版本（10.1007/s 00417 -017-3859-7）包含补充材料，可供授权用户使用。
To establish the prevalence and heritability of cilioretinal arteries (CRAs), tilted discs (TDs) and situs inversus (SI). Fundus photos from the Twins UK Adult Twin registry twin database were analyzed: 1812 individuals, 526 complete monozygotic (MZ) twin pairs and 336 complete dizygotic (DZ) pairs. Images were assessed non-stereoscopically on a computer screen by the same ophthalmologist for presence of CRAs, TDs or SI. Prevalence figures, probandwise concordances and heritabilities were calculated. Prevalence of a CRA in subjects’ right eyes was 28.6% (26.5–30.8). Prevalence of subjects with a CRA in at least one eye was 45.0% (42.6–47.5), with a TD in at least one eye was 1.2% (0.8–1.9), and with SI at least one eye was 0.5% (0.3–1.0). There was no association between birth weight and presence of CRA. Concordance for CRA in at least one eye (MZ twins) was 60% (95% CI 55–64), and (DZ) was 45% (95% CI 39–51). Heritability for CRAs in at least one eye was 49.4% (95% CI 38.1–59.7) and for both eyes was 32.9% (95% CI 10.4–53.3). We were unable to calculate meaningful heritabilities or concordances for TDs and situs SI, due to insufficient numbers. The presence of CRAs appears to be moderately heritable, with greater variance explained by individual environmental factors or even stochastic events. They were not associated with low birth weight. Future genetic research and studies of birth/lifecourse cohorts may offer further insights into the etiology of congenital papillovascular abnormalities. The online version of this article (10.1007/s00417-017-3859-7) contains supplementary material, which is available to authorized users.
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影响因子：
--
作者：
How, Alicia C. S.;Tan, Gavin S. W.;Aung, Tin
通讯作者：
Aung, Tin
影响因子：
9.8
作者：
Fruttiger, Marcus
通讯作者：
Fruttiger, Marcus
DOI：
10.1375/twin.4.6.464
发表时间：
2001-12-01
期刊：
Twin research : the official journal of the International Society for Twin Studies
影响因子：
--
作者：
Andrew, T;Hart, D J;MacGregor, A J
通讯作者：
MacGregor, A J
影响因子：
4.1
作者：
DORRELL, D
通讯作者：
DORRELL, D
影响因子：
3.9
作者：
BOTTONI, FG;EGGINK, CA;VERBEEK, AM
通讯作者：
VERBEEK, AM