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圆锥角膜中甲状腺功能障碍与维生素 D 受体基因多态性。

Thyroid gland dysfunction and vitamin D receptor gene polymorphism in keratoconus.

机构信息

Department of Ophthalmology, Mansoura Ophthalmic Center, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

出版信息

Eye (Lond). 2023 Jun;37(8):1602-1607. doi: 10.1038/s41433-022-02172-6. Epub 2022 Aug 1.

Abstract

OBJECTIVES

To detect the serum level of thyroid hormones, vitamin D and vitamin D receptors (VDR) polymorphism in keratoconus (KC) patients and to identify the association between vitamin D deficiency and thyroid dysfunction in KC.

METHODS

This cross sectional study included 177 KC patients with no thyroid disorders compared to 85 healthy controls with normal corneal tomography. Measurements of thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free tetraiodothyronine (FT4) and serum 25-OH vitamin D were done using Enzyme linked immusoassay (ELISA test). VDR polymorphisms were tested including [Taq I (rs731236), Apa I (rs7975232) and Bsm I (rs1544410)] using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTS

An increase in frequency of thyroid disorders (P = 0.04), decrease in serum 25(OH) vitamin D level (P < 0.001), Taq 1 and tt genotype (P < 0.001) were significantly distributed in KC patients. A significantly higher serum 25(OH) vitamin D level was reported in TT genotype, while insufficient level was more common in Tt genotype (P < 0.001). A deficient serum 25(OH) vitamin D level was predominant in tt genotype (P < 0.001). A 95% confidence interval was in TSH (1.603, 2.946), FT4 (24.145, 77.06), hypothyroidism (1.062, 67.63), insufficient (2.936, 11.643) and deficient vitamin D (5.283, 28.704) and all were significant risk factors for KC with (P < 0.05).

CONCLUSIONS

Both thyroid disorders and low vitamin D are potential factors for KC development. Studying VDR at the molecular level provides interesting avenues for future research toward the identification of new KC cases.

摘要

目的

检测圆锥角膜(KC)患者血清甲状腺激素、维生素 D 及维生素 D 受体(VDR)多态性水平,探讨维生素 D 缺乏与 KC 甲状腺功能障碍的关系。

方法

本横断面研究纳入 177 例无甲状腺疾病的 KC 患者,与 85 例正常角膜地形图的健康对照进行比较。采用酶联免疫吸附试验(ELISA 试验)检测促甲状腺激素(TSH)、游离三碘甲状腺原氨酸(FT3)、游离甲状腺素(FT4)和血清 25-羟维生素 D。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测 VDR 多态性,包括 Taq I(rs731236)、Apa I(rs7975232)和 Bsm I(rs1544410)。

结果

KC 患者甲状腺疾病的发生率升高(P=0.04),血清 25(OH)维生素 D 水平降低(P<0.001),Taq 1 和 tt 基因型的频率增加(P<0.001)。TT 基因型的血清 25(OH)维生素 D 水平较高,而 Tt 基因型的血清 25(OH)维生素 D 水平不足更为常见(P<0.001)。tt 基因型的血清 25(OH)维生素 D 水平不足更为常见(P<0.001)。95%可信区间为 TSH(1.603,2.946)、FT4(24.145,77.06)、甲状腺功能减退(1.062,67.63)、不足(2.936,11.643)和缺乏维生素 D(5.283,28.704),所有这些都是 KC 的显著危险因素(P<0.05)。

结论

甲状腺功能障碍和维生素 D 缺乏都是 KC 发病的潜在因素。从分子水平研究 VDR 为鉴定新的 KC 病例提供了有趣的研究途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/98e8/10220045/12498cfe196f/41433_2022_2172_Fig1_HTML.jpg

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