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Summary of Utah Project on Exfoliation Syndrome (UPEXS): using a large database to identify systemic comorbidities
BMJ Open Ophthalmology ( IF 2.0 ) Pub Date : 2021-10-01 , DOI: 10.1136/bmjophth-2021-000803
Christian James Pompoco 1 , Karen Curtin 1, 2 , Samuel Taylor 1 , Chase Paulson 1 , Caleb Shumway 3 , Matt Conley 1 , D James Barker 1 , Cole Swiston 1 , Brian Stagg 1 , Robert Ritch 4 , Barbara M Wirostko 1
Affiliation  

The purpose of the Utah Project on Exfoliation Syndrome (UPEXS) is to identify associations between exfoliation syndrome (XFS) and other diseases that share the commonality of abnormalities in elastin and Lysyl Oxidase-Like 1 gene regulation. The UPEXS is unique because it uses the Utah Population Database, which is linked to the Utah genealogy, that contains a compilation of large pedigrees of most families in the state of Utah that go back multiple generations (3 to ≥11). The health and medical records of these family members are linked to vital records and can be used effectively in studies focused on genetic disorders like XFS, where familial clustering of a disorder is a trend. There is increasing evidence that patients with XFS have a higher risk of certain systemic disorders that reflect the systemic tissue abnormalities of XFS. Epidemiological studies focused on patients with XFS have shown that there is an increased risk of these individuals developing other pathologies that have abnormalities in extracellular matrix metabolism and repair. UPEXS has focused on suspected comorbidities that involve abnormalities in elastin maintenance, a protein that plays a role in the makeup of the extracellular matrix. In this paper, the results from the analysis of chronic obstructive pulmonary disease, inguinal hernias, pelvic organ prolapse, obstructive sleep apnoea and atrial fibrillation are summarised along with the utility of using such a large dataset. Data are available in a public, open access repository. Data are available upon reasonable request. Not applicable.

中文翻译:


犹他州剥脱综合症项目 (UPEXS) 摘要:使用大型数据库识别系统性合并症



犹他州剥脱综合症项目 (UPEXS) 的目的是确定剥脱综合症 (XFS) 与其他具有弹性蛋白和赖氨酰氧化酶样 1 基因调控异常共性的疾病之间的关联。 UPEXS 的独特之处在于它使用犹他州人口数据库,该数据库与犹他州谱系相关联,其中包含犹他州大多数家庭的大型谱系汇编,可追溯到多代(3 至 ≥11)。这些家庭成员的健康和医疗记录与重要记录相关联,可有效用于针对 XFS 等遗传性疾病的研究,其中疾病的家族聚集是一种趋势。越来越多的证据表明,XFS 患者患某些全身性疾病的风险较高,这些疾病反映了 XFS 的全身组织异常。针对 XFS 患者的流行病学研究表明,这些人发生细胞外基质代谢和修复异常的其他疾病的风险增加。 UPEXS 重点关注涉及弹性蛋白维持异常的可疑合并症,弹性蛋白维持是一种在细胞外基质的构成中发挥作用的蛋白质。本文总结了慢性阻塞性肺病、腹股沟疝气、盆腔器官脱垂、阻塞性睡眠呼吸暂停和心房颤动的分析结果以及使用如此大的数据集的效用。数据可在公共、开放访问存储库中获取。数据可根据合理要求提供。不适用。
更新日期:2021-10-28
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