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近亲结婚作为圆锥角膜发病的一个风险因素。

Consanguineous Marriage as a Risk Factor for Developing Keratoconus.

作者信息

Jamali Hossein, Beigi Vahid, Sadeghi-Sarvestani Ali

机构信息

Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Med Hypothesis Discov Innov Ophthalmol. 2018 Spring;7(1):17-21.

Abstract

Heredity plays an important role in keratoconus (KC). Consanguineous marriage (CM) can affect the transmission of recessively inherited conditions. We aimed to investigate the role of consanguineous marriage in the development of KC. This study included two groups: the first group comprised 415 patients who underwent surgery for KC for the first time at Khalili University Hospital (Shiraz, Iran), between 2010 and 2014; the second group comprised 415 healthy individuals who served as age- and sex-matched controls for the patient group. All study subjects were from the Fars province in Iran. CM type was evaluated by a standard checklist in both groups. The mean inbreeding coefficient (α) was evaluated and compared between the two groups. The percentage of parental first-cousin marriages was 35.4% in the patient group and 18.3% in the control group. The mean inbreeding coefficient (α) was 0.0291 in the patient group and 0.0135 in the control group. Patients with KC had a significantly higher mean inbreeding coefficient (α) than controls (T = 8, df = 828, P < 0.001). Our study suggests that CM can play a role in the pathogenesis of KC. As this disease is among the most frequent ocular disorders in our country, CM should be considered by health care systems within their screening programs.

摘要

遗传在圆锥角膜(KC)中起着重要作用。近亲结婚(CM)会影响隐性遗传疾病的传递。我们旨在研究近亲结婚在圆锥角膜发病中的作用。本研究包括两组:第一组由2010年至2014年期间在哈利利大学医院(伊朗设拉子)首次接受圆锥角膜手术的415名患者组成;第二组由415名健康个体组成,作为患者组的年龄和性别匹配对照。所有研究对象均来自伊朗法尔斯省。两组均通过标准检查表评估近亲结婚类型。评估并比较两组的平均近亲系数(α)。患者组中父母为表亲的婚姻比例为35.4%,对照组为18.3%。患者组的平均近亲系数(α)为0.0291,对照组为0.0135。圆锥角膜患者的平均近亲系数(α)显著高于对照组(T = 8,自由度 = 828,P < 0.001)。我们的研究表明,近亲结婚可能在圆锥角膜的发病机制中起作用。由于这种疾病是我国最常见的眼部疾病之一,医疗保健系统在其筛查项目中应考虑近亲结婚因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a9c/5887602/489e8f25eb0a/mehdiophth-7-017-g001.jpg

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