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评估墨西哥人群中散光和近视的遗传贡献。

Estimating the Genetic Contribution to Astigmatism and Myopia in the Mexican Population.

作者信息

Román-López Talía V, García-Vilchis Brisa, Murillo-Lechuga Vanessa, Chiu-Han Enrique, López-Camaño Xanat, Aldana-Assad Oscar, Diaz-Torres Santiago, Caballero-Sánchez Ulises, Ortega-Mora Ivett, Ramírez-González Diego, Zenteno Diego, Espinosa-Valdés Zaida, Tapia-Atilano Andrea, Pradel-Jiménez Sofía, Rentería Miguel E, Medina-Rivera Alejandra, Ruiz-Contreras Alejandra E, Alcauter Sarael

机构信息

Departamento de Neurobiología Conductual y Cognitiva, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.

Laboratorio de Neurogenómica Cognitiva, Unidad de Investigación en Psicobiología y Neurociencias, Coordinación de Psicobiología y Neurociencias, Facultad de Psicología, Universidad Nacional Autónoma de México, Coyoacán, Ciudad de México, México.

出版信息

Twin Res Hum Genet. 2023 Oct 16:1-9. doi: 10.1017/thg.2023.41.

Abstract

Astigmatism and myopia are two common ocular refractive errors that can impact daily life, including learning and productivity. Current knowledge suggests that the etiology of these conditions is the result of a complex interplay between genetic and environmental factors. Studies in populations of European ancestry have demonstrated a higher concordance of refractive errors in monozygotic (MZ) twins compared to dizygotic (DZ) twins. However, there is a lack of studies on genetically informative samples of multi-ethnic ancestry. This study aimed to estimate the genetic contribution to astigmatism and myopia in the Mexican population. A sample of 1399 families, including 243 twin pairs and 1156 single twins, completed a medical questionnaire about their own and their co-twin's diagnosis of astigmatism and myopia. Concordance rates for astigmatism and myopia were estimated, and heritability and genetic correlations were determined using a bivariate ACE Cholesky decomposition method, decomposed into A (additive genetic), C (shared environmental) and E (unique environmental) components. The results showed a higher concordance rate for astigmatism and myopia for MZ twins (.74 and .74, respectively) than for DZ twins (.50 and .55). The AE model, instead of the ACE model, best fitted the data. Based on this, heritability estimates were .81 for astigmatism and .81 for myopia, with a cross-trait genetic correlation of A = .80, nonshared environmental correlation E = .89, and a phenotypic correlation of P = .80. These results are consistent with previous findings in other populations, providing evidence for a similar genetic architecture of these conditions in the multi-ethnic Mexican population.

摘要

散光和近视是两种常见的眼屈光不正,会影响日常生活,包括学习和工作效率。目前的知识表明,这些病症的病因是遗传和环境因素之间复杂相互作用的结果。对欧洲血统人群的研究表明,与异卵双胞胎相比,同卵双胞胎的屈光不正一致性更高。然而,缺乏对多民族血统的遗传信息样本的研究。本研究旨在估计墨西哥人群中散光和近视的遗传贡献。一个由1399个家庭组成的样本,包括243对双胞胎和1156名单胞胎,完成了一份关于他们自己以及其双胞胎同伴散光和近视诊断的医学问卷。估计了散光和近视的一致性率,并使用双变量ACE Cholesky分解方法确定遗传力和遗传相关性,分解为A(加性遗传)、C(共享环境)和E(独特环境)成分。结果显示,同卵双胞胎的散光和近视一致性率(分别为0.74和0.74)高于异卵双胞胎(分别为0.50和0.55)。AE模型而非ACE模型最适合该数据。据此,散光的遗传力估计值为0.81,近视为0.81,跨性状遗传相关性A = 0.80,非共享环境相关性E = 0.89,表型相关性P = 0.80。这些结果与其他人群先前的发现一致,为多民族墨西哥人群中这些病症类似的遗传结构提供了证据。

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