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体重指数与 Fuchs 内皮角膜营养不良严重程度和 TCF4 CTG18.1 三核苷酸重复扩展的关系。

Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion.

机构信息

Ross Eye Institute, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY.

Alix School of Medicine, Mayo Clinic, Rochester, MN.

出版信息

Cornea. 2021 Dec 1;40(12):1567-1570. doi: 10.1097/ICO.0000000000002689.

DOI:10.1097/ICO.0000000000002689
PMID:33782268
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8478960/
Abstract

PURPOSE

To investigate the association of body mass index (BMI) with Fuchs endothelial corneal dystrophy (FECD) severity and TCF4 CTG18.1 expansion.

METHODS

A total of 343 patients with FECD were enrolled from the Mayo Clinic. FECD severity was graded by slit-lamp biomicroscopy. BMI values were obtained from the electronic medical records. DNA extracted from leukocytes was analyzed for CTG18.1 expansion length, with ≥40 repeats considered expanded. Wilcoxon signed-rank tests were used to compare FECD grade and CTG18.1 expansion length in patients by BMI (<25, ≥25 to <30, and ≥30 kg/m2). FECD grade was regressed on age, sex, BMI, and CTG18.1 expansion and, separately, BMI on CTG18.1 expansion. Models were investigated for effect modification by age and sex with an interaction term of P < 0.05 considered statistically significant.

RESULTS

When examining the association between BMI and FECD, there was a significant interaction between BMI and sex (P for interaction = 0.004). When controlling for age and CTG18.1 expansion, a positive association was observed between BMI and FECD grade in women, but not in men. In addition, BMI was not associated with CTG18.1 expansion when controlling for age and sex.

CONCLUSIONS

BMI was positively associated with FECD severity among women but not men. There was no significant association between BMI and CTG18.1 expansion. These findings suggest that increased BMI is potentially a modifiable risk factor for FECD disease progression among women.

摘要

目的

研究体重指数(BMI)与 Fuchs 内皮角膜营养不良(FECD)严重程度和 TCF4 CTG18.1 扩展之间的关联。

方法

从梅奥诊所招募了 343 名 FECD 患者。通过裂隙灯生物显微镜对 FECD 严重程度进行分级。从电子病历中获取 BMI 值。从白细胞中提取的 DNA 用于分析 CTG18.1 扩展长度,将≥40 个重复视为扩展。使用 Wilcoxon 符号秩检验比较 BMI(<25、≥25 至<30 和≥30 kg/m2)患者的 FECD 分级和 CTG18.1 扩展长度。将 FECD 分级回归到年龄、性别、BMI 和 CTG18.1 扩展,并且分别将 BMI 回归到 CTG18.1 扩展。通过年龄和性别交互项(P < 0.05)检验模型的效应修饰。

结果

在检查 BMI 与 FECD 之间的关联时,BMI 与性别之间存在显著的交互作用(P 交互= 0.004)。在控制年龄和 CTG18.1 扩展的情况下,BMI 与女性 FECD 分级呈正相关,但与男性无关。此外,在控制年龄和性别时,BMI 与 CTG18.1 扩展无关。

结论

BMI 与女性 FECD 严重程度呈正相关,但与男性无关。BMI 与 CTG18.1 扩展之间没有显著关联。这些发现表明,BMI 增加可能是女性 FECD 疾病进展的可改变危险因素。

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