The PSC scientific community resource: an asset for multi-omics interrogation of primary sclerosing cholangitis.
The PSC scientific community resource: an asset for multi-omics interrogation of primary sclerosing cholangitis.
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PSC科学社区资源：用于对原发性硬化性胆管炎进行多组学询问的资产。
DOI：
10.1186/s12876-021-01930-2
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发表时间：
2021-09-25
影响因子：
2.4
通讯作者：
Lazaridis KN
中科院分区：
文献类型：
--
作者：
Ali AH;Juran BD;Schlicht EM;Bianchi JK;McCauley BM;Atkinson EJ;Lazaridis KN
原发性硬化性胆管炎（PSC）是一种罕见的慢性胆汁淤积性肝病，通常进展为终末期肝病和/或发展为肝胆肿瘤。PSC缺乏预后工具和治疗选择，部分原因是我们对其发病机制的理解不足，这被认为是复杂的，遗传变异，环境影响和整个疾病过程中的生物反应的相互作用。PSC科学社区资源（PSC-SCR）旨在通过促进PSC的新研究来克服以前的缺点，最终目标是个性化患者护理和改善患者结局。通过病历审查确定在马约诊所或合作研究中心接受医疗保健的PSC患者，并亲自或通过邮件邀请其参加研究。如果非Mayo患者提供足够的医疗记录访问权限以评估入选/排除标准，则可以入组。在马约诊所生物样本库的帮助下确定无肝病的对照。在招募过程开始时，通过邮件、电子或面对面协议获得参与者的同意。临床数据由合格的医生从病历中提取，并输入定制设计的数据库。参与者填写定制设计的综合问卷，收集科学相关的人口统计学和临床信息。使用邮寄试剂盒采集生物标本，通过隔夜承运人服务返回，并由马约诊所的生物标本登记和处理机构进行处理，该机构负责协调样本转移并提供所需的样本制备服务。该资源目前正被用于执行组学规模的项目，调查PSC中的代谢组，代谢组，甲基化组，免疫组和微生物组。数据集和残留生物标本将与研究人员共享，这些研究人员提出了科学合理的PSC重点研究，并获得了适当的审查委员会的批准。以患者为基础的研究利用最新技术对多个组学层进行有针对性的和大规模的询问，通过发现疾病发病机制的不受重视的方面，有望加速PSC研究。然而，PSC的罕见性严重限制了此类研究。在这里，我们描述了我们的努力，以克服这一限制，PSC-SCR，病人的生物标本加上临床和组学数据库，供更广泛的PSC研究界使用。在线版本包含补充材料，可通过10.1186/s12876-021-01930-2获得。
Primary sclerosing cholangitis (PSC) is a rare, chronic cholestatic liver disease that often progresses to end-stage liver disease and/or the development of hepatobiliary neoplasia. Lack of prognostic tools and treatment options for PSC is driven in part by our poor understanding of its pathogenesis, which is thought to be complex, the interaction of genetic variants, environmental influences and biological response throughout the course of disease. The PSC Scientific Community Resource (PSC-SCR) seeks to overcome previous shortcomings by facilitating novel research in PSC with the ultimate goals of individualizing patient care and improving patient outcomes. PSC patients who receive their health care at Mayo Clinic or a collaborating site are identified by chart review and invited in person or by mail to participate. Non-Mayo patients are offered enrollment if they provide sufficient access to their medical records to evaluate inclusion/exclusion criteria. Controls without liver disease are identified with assistance of the Mayo Clinic Biobank. Participant consent is obtained at the beginning of the recruitment process by mail-in, electronic or face-to-face protocols. Clinical data is extracted from the medical record by qualified physicians and entered in a custom designed database. Participants fill out a custom-designed, comprehensive questionnaire, which collects scientifically relevant demographic and clinical information. Biospecimens are collected using mail-in kits thar are returned via overnight carrier service and processed by the biospecimen accessioning and processing facility at Mayo Clinic, which coordinates sample transfers and provides required sample preparation services. The resource is currently being utilized to perform omics-scale projects investigating the exposome, metabolome, methylome, immunome and microbiome in PSC. Datasets and residual biospecimens will be shared with researchers proposing scientifically sound PSC-focused research with approval of the appropriate review boards. Patient-based studies leveraging the latest technologies for targeted and wide-scale interrogation of multiple omics layers offer promise to accelerate PSC research through discovery of unappreciated aspects of disease pathogenesis. However, the rarity of PSC severely limits such studies. Here we describe our effort to overcome this limitation, the PSC-SCR, a repository of patient biospecimens coupled with clinical and omics data for use by the broader PSC research community. The online version contains supplementary material available at 10.1186/s12876-021-01930-2.
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影响因子：
7.6
作者：
Eaton, J. E.;Juran, B. D.;Lazaridis, K. N.
通讯作者：
Lazaridis, K. N.
DOI：
10.1056/nejmra1506330
发表时间：
2016-09-22
期刊：
The New England journal of medicine
影响因子：
--
作者：
Lazaridis KN;LaRusso NF
通讯作者：
LaRusso NF
影响因子：
25.7
作者：
Bergquist, A;Ekbom, A;Broomé, U
通讯作者：
Broomé, U
影响因子：
29.4
作者：
Eaton JE;Talwalkar JA;Lazaridis KN;Gores GJ;Lindor KD
通讯作者：
Lindor KD
影响因子：
1.9
作者：
Brandsæter, B;Friman, S;Bjoro, K
通讯作者：
Bjoro, K