Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.
Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.
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DOI：
10.1016/j.ophtha.2017.03.017
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发表时间：
2017-08
期刊：
影响因子：
13.7
通讯作者：
Mahroo OA
中科院分区：
文献类型：
--
作者：
Bhatti T;Tariq A;Shen T;Williams KM;Hammond CJ;Mahroo OA
估计人类视网膜电生理参数的遗传度，并探讨哪些参数随年龄变化。前瞻性、经典的双胞胎研究。从TwinsUK队列招募的成人单合子和异卵双胞胎。使用导电纤维电极记录视网膜电信号的反应，以响应包含国际视觉临床电生理学协会设定的标准的刺激。提取这些参数；此外，从对明视单次闪光的反应中提取明视负反应(PhNR；起源于视网膜神经节细胞)和I波成分。取双眼各参数值的平均值。计算了队列的平均值。计算与年龄的相关系数(每对双胞胎的平均参数)。计算了同卵和异卵双胞胎的配对内相关系数。年龄调整遗传力估计使用标准的最大似然结构方程双胞胎建模。总共记录了210名参与者(59对同卵双胞胎和46对异卵双胞胎)的反应。93%是女性。队列的平均年龄为62.4岁(标准差为11.4岁)。总体而言，反应幅度与年龄呈负相关，内隐时间与年龄呈正相关。相关系数为0.35，具有统计学意义(P<；0.05)，与暗视标准和亮光a波潜伏期、明视30 Hz闪光和单闪光b波潜伏期、PhNR和I波潜伏期相关。同卵双胞胎的配对内相关性高于同卵双胞胎，这表明了重要的遗传影响。年龄调整后的遗传力估计对所有参数(暗淡闪光b波隐含时间除外)都有显著意义，范围从0.34到0.85。最高的估计是明视单次闪光的a波和b波幅度(分别为0.84和0.85)。这项研究探讨了视网膜电生理参数的遗传性，并包括反映神经节细胞功能的测量。大多数参数表现出显著的遗传力，表明遗传因素是重要的，在某些锥体系统响应参数中决定了高达85%的方差。暗视反应往往表现出较低的遗传率(可能与杆状系统对环境因素的敏感度更高有关)。未来的研究可以探索这些遗传因素的身份，提高我们对它们如何塑造视网膜功能的理解。
To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age. Prospective, classic twin study. Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort. Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision. These parameters were extracted; in addition, photopic negative-response (PhNR; originating from retinal ganglion cells) and i-wave components were extracted from responses to the photopic single flash. Parameter values were averaged from both eyes. Mean values were calculated for the cohort. Correlation coefficients with age were calculated (averaging parameters from both twins from each pair). Coefficients of intrapair correlation were calculated for monozygotic and dizygotic twins. Age-adjusted heritability estimates were derived using standard maximum likelihood structural equation twin modeling. Responses were recorded from 210 participants in total (59 monozygotic and 46 dizygotic twin pairs). Ninety-three percent were women. Mean age for the cohort was 62.4 years (standard deviation, 11.4 years). In general, response amplitudes correlated negatively, and implicit times positively, with age. Correlations were statistically significant (P < 0.05) and moderate or strong (coefficient, >0.35) for the following parameters: scotopic standard and bright-flash a-wave implicit times, photopic 30-Hz flicker and single-flash b-wave implicit times, and PhNR and i-wave implicit times. Intrapair correlations were higher for monozygotic than dizygotic twins, suggesting important genetic influences. Age-adjusted estimates of heritability were significant for all parameters (except scotopic dim-flash b-wave implicit time), ranging from 0.34 to 0.85. Highest estimates were for photopic single-flash a-wave and b-wave amplitudes (0.84 and 0.85, respectively). This study explored heritability of retinal electrophysiologic parameters and included measurements reflecting ganglion cell function. Most parameters showed significant heritability, indicating that genetic factors are important, determining up to 85% of the variance in some cone system response parameters. Scotopic responses tended to show lower heritability (possibly relating to greater rod system susceptibility to environmental factors). Future studies can explore the identity of these genetic factors, improving our understanding of how they shape retinal function.
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影响因子：
1.4
作者：
Hamilton, R.;Al Abdlseaed, A.;Thompson, D. A.
通讯作者：
Thompson, D. A.
DOI：
10.1111/jcpp.12499
发表时间：
2016-05
期刊：
Journal of child psychology and psychiatry, and allied disciplines
影响因子：
--
作者：
Tick B;Bolton P;Happé F;Rutter M;Rijsdijk F
通讯作者：
Rijsdijk F
影响因子：
4.4
作者：
Chamberlain, MD;Guymer, RH;Baird, PN
通讯作者：
Baird, PN
影响因子：
5.5
作者：
Robson, JG;Saszik, SM;Frishman, LJ
通讯作者：
Frishman, LJ
影响因子：
3.4
作者：
Fortune, B;Bui, BV;Cioffi, GA
通讯作者：
Cioffi, GA