近亲结婚与先天性上睑下垂风险增加：来自伊朗南部的一项病例对照研究。
Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran.
作者信息
Khalili Mohammad Reza, Owji Naser, Zarei Elahe, Nazari Mohammadreza
机构信息
Department of Ophthalmology, Poostchi Ophthalmology Research Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Student of Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
J Curr Ophthalmol. 2023 Apr 29;34(4):465-468. doi: 10.4103/joco.joco_136_22. eCollection 2022 Oct-Dec.
PURPOSE
To assess consanguinity as a probable risk factor for congenital ptosis.
METHODS
In this case-control study, 97 patients with congenital ptosis and 97 participants as the control group were included. The age, sex, and residence area of the control group were matched with the cases. The inbreeding coefficient (F) was calculated for each participant, and the mean of the inbreeding coefficient (α) was calculated for each group.
RESULTS
The prevalence of consanguineous marriage in parents of cases with congenital ptosis and those of the control group was 54.6% and 30.9%, respectively ( < 0.002). The mean of the inbreeding coefficient (α) in patients with ptosis was 0.026, whereas it was 0.016 in the control group (T = 2.51, degree of freedom = 192, = 0.0129).
CONCLUSIONS
The rate of consanguineous marriage was significantly higher among the parents of patients with congenital ptosis. It implies a probable recessive pattern in the etiology of congenital ptosis.
目的
评估近亲结婚作为先天性上睑下垂可能的危险因素。
方法
在这项病例对照研究中，纳入了97例先天性上睑下垂患者和97名参与者作为对照组。对照组的年龄、性别和居住地区与病例组相匹配。计算每个参与者的近亲繁殖系数（F），并计算每组的近亲繁殖系数均值（α）。
结果
先天性上睑下垂患者父母和对照组父母的近亲结婚率分别为54.6%和30.9%（<0.002）。上睑下垂患者的近亲繁殖系数均值（α）为0.026，而对照组为0.016（T=2.51，自由度=192，=0.0129）。
结论
先天性上睑下垂患者父母的近亲结婚率显著更高。这意味着先天性上睑下垂病因中可能存在隐性模式。
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