FOXO1 和 ZNF469 基因中的遗传变异与瑞典的圆锥角膜有关：一项病例对照研究。
Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.
机构信息
Region of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden.
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, the Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
出版信息
BMC Ophthalmol. 2024 Jan 24;24(1):36. doi: 10.1186/s12886-024-03299-8.
BACKGROUND
Keratoconus (KC) is characterized by pathological thinning and bulging of the cornea that may lead to visual impairment. The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort.
METHODS
A total of 176 patients (age 16-70 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (n = 418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis.
RESULTS
Statistically significant associations (p = 0.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the FOXO1 and BANP-ZNF469 genes and sporadic KC in other populations.
CONCLUSION
Genetic variations in the FOXO1 and BANP-ZNF469 genes may be involved in the pathogenesis of sporadic KC.
背景
圆锥角膜（KC）的特征是角膜病理性变薄和膨出，可能导致视力损害。尽管近几十年来进行了密集的研究，但散发性 KC 的病因仍然扑朔迷离。本研究旨在检查先前与 KC 相关的遗传变异与瑞典队列中的散发性 KC 之间的关系。
方法
共纳入 176 名（年龄 16-70 岁）经 Scheimpflug topography（Pentacam）诊断为散发性 KC 的患者。对照组（n=418；年龄 70 岁）是源自哥德堡 H70 出生队列研究的亚样本。根据标准程序从血样中提取 DNA，并使用竞争性等位基因特异性 PCR（KASP）技术进行基因分型。共选择了 11 个单核苷酸多态性（SNP）进行分析。
结果
rs2721051 和 rs9938149 与散发性 KC 之间存在统计学显著关联（p=0.005）。这些结果复制了早期研究，该研究发现 FOXO1 和 BANP-ZNF469 基因中的遗传变异与其他人群中的散发性 KC 之间存在关联。
结论
FOXO1 和 BANP-ZNF469 基因中的遗传变异可能参与了散发性 KC 的发病机制。
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