Dataset Information

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

ABSTRACT: The prevalence of end-stage renal disease (ESRD) and the number of kidney transplants performed continues to rise every year, straining the procurement of deceased and living kidney allografts and health systems. Genome-wide genotyping and sequencing of diseased populations have uncovered genetic contributors in substantial proportions of ESRD patients. A number of these discoveries are beginning to be utilized in risk stratification and clinical management of patients. Specifically, genetics can provide insight into the primary cause of chronic kidney disease (CKD), the risk of progression to ESRD, and post-transplant outcomes, including various forms of allograft rejection. The International Genetics & Translational Research in Transplantation Network (iGeneTRAiN), is a multi-site consortium that encompasses >45 genetic studies with genome-wide genotyping from over 51,000 transplant samples, including genome-wide data from >30 kidney transplant cohorts (n = 28,015). iGeneTRAiN is statistically powered to capture both rare and common genetic contributions to ESRD and post-transplant outcomes. The primary cause of ESRD is often difficult to ascertain, especially where formal biopsy diagnosis is not performed, and is unavailable in ?2% to >20% of kidney transplant recipients in iGeneTRAiN studies. We overview our current copy number variant (CNV) screening approaches from genome-wide genotyping datasets in iGeneTRAiN, in attempts to discover and validate genetic contributors to CKD and ESRD. Greater aggregation and analyses of well phenotyped patients with genome-wide datasets will undoubtedly yield insights into the underlying pathophysiological mechanisms of CKD, leading the way to improved diagnostic precision in nephrology.

SUBMITTER: Fishman CE

PROVIDER: S-EPMC6873800 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Publications

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

Fishman Claire E CE Mohebnasab Maede M van Setten Jessica J Zanoni Francesca F Wang Chen C Deaglio Silvia S Amoroso Antonio A Callans Lauren L van Gelder Teun T Lee Sangho S Kiryluk Krzysztof K Lanktree Matthew B MB Keating Brendan J BJ

Frontiers in genetics 20191115

The prevalence of end-stage renal disease (ESRD) and the number of kidney transplants performed continues to rise every year, straining the procurement of deceased and living kidney allografts and health systems. Genome-wide genotyping and sequencing of diseased populations have uncovered genetic contributors in substantial proportions of ESRD patients. A number of these discoveries are beginning to be utilized in risk stratification and clinical management of patients. Specifically, genetics ca ...[more]

PMID: 31803228

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Project description:Background and objectiveFemales represent 49.6% of the global population and constitute a significant proportion of surgical patients and hospital admissions. Little is known about the bi-directional effects of sex and anesthetics or the impact of anesthetic interventions on long-term female health outcomes. Sex differences in pain pathways can influence pain experience and treatment effectiveness. The impact of anesthetic management on the recurrence of breast cancer is poorly understood, as are the long-term consequences of cardiovascular disease and safe and effective treatments in pregnancy. This review aims to outline recent advances in translational science in female health anesthesiology research and highlight critical research opportunities in pain, cancer outcomes, and cardiovascular disorders.MethodsWe searched PubMed and summarized relevant articles published in English between December 2021 and June 2022.Key content and findingsStudies reveal sex differences in pain pathways and highlight the importance of sex as a biological variable in experimental designs and translational medicine. Sex differences have also been observed in side effects attributed to opioid analgesics. We summarize some of the neural circuits that might underlie these differences. In the perioperative setting, specific anesthetics are implicated in metastatic seeding potential and acute and chronic pain outcomes, suggesting the importance of anesthetic selection in comprehensive care during oncologic surgery. In the peridelivery setting, preeclampsia, a cardiovascular disorder of pregnancy, affects maternal outcomes; however, biomarkers can risk-stratify females at risk for preeclampsia and hold promise for identifying the risk of adverse neurological and other health outcomes.ConclusionsResearch that builds diagnostic and predictive tools in pain and cardiovascular disease will help anesthesiologists minimize sex-related risks and side effects associated with anesthetics and peri-hospital treatments. Sex-specific anesthesia care will improve outcomes, as will the provision of practical information to patients and clinicians about the effectiveness of therapies and behavioral interventions. However, more research studies and specific analytic plans are needed to continue addressing sex-based outcomes in anesthesiology.

Dataset Information

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

Publications

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

Similar Datasets

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