Abstract:
:Complex polygenic and multifactorial diseases remain a challenge for human geneticists. Here we aim to remind basic definitions of multifactorial diseases and the genetic related concepts underlying classical methods. Knowledge on pathophysiological process and the genetic information available conditions the design of study. The choice of methodology, between candidate gene approach and genome scan approach, between linkage and association studies, is the most important step. Both methods, linkage analysis and association studies are usually considered as complementary approaches for a given disease. For this reason, in this article, we present the most important classical methodologies in genetic epidemiology of complex disorders. References and examples are given to illustrate.
journal_name
Transpl Immunoljournal_title
Transplant immunologyauthors
Barnetche T,Gourraud PA,Cambon-Thomsen Adoi
10.1016/j.trim.2005.03.015subject
Has Abstractpub_date
2005-08-01 00:00:00pages
255-66issue
3-4eissn
0966-3274issn
1878-5492pii
S0966-3274(05)00045-6journal_volume
14pub_type
杂志文章,评审abstract::Gene polymorphisms of cytotoxic T lymphocyte associated antigen 4 (CTLA4) play an influential role in the graft rejection and long-term clinical outcome of organ transplantation. We investigated the associations of five CTLA4 single nucleotide polymorphisms (SNPs) (rs733618T/C, rs4553808A/G, rs5742909C/T, rs231775G/A,...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2012.02.005
更新日期:2012-06-01 00:00:00
abstract::National registry data indicate a trend towards the incorporation of lymphocyte depletion antibody induction therapy into immunosuppressive regimens for solid organ transplantation. Depletional induction has been shown to reduce the risk of early acute rejection, but increase the risk of immune incompetence. As such, ...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2008.09.003
更新日期:2008-11-01 00:00:00
abstract::Limiting dilution analysis technique was used to enumerate the circulating precursor frequency of donor and third-party-reactive helper T lymphocytes (HTLpf) in 28 renal allograft recipients before (pre-tx) and at three intervals (T1: 60-90 days, T2: 120-180 days, T3: 360-1620 days) after transplantation (post-tx). Tw...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(97)80048-2
更新日期:1997-06-01 00:00:00
abstract::Calcineurin a calmodulin-dependent phosphatase plays a critical role in calcium-dependent activation of T-lymphocytes and is the major target for the inhibitory actions of the immunosuppressive drugs Tacrolimus (FK506) and Cyclosporin A (CsA). Calcineurin is a dimeric protein consisting of distinct A (catalytic) and B...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(00)00020-4
更新日期:2000-06-01 00:00:00
abstract::The gene expression of the cytotoxic T-cell molecules perforin, granzyme B and Fas ligand are associated with acute rejection in renal allograft recipients. Several immune mechanisms are linked to severe systemic inflammation in brain-dead organ donors. We examined the mRNA expression of these T-cell activation biomar...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2008.12.002
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:Graft-versus-host disease is one of the major complications after allogeneic bone marrow transplantation, but it is not easy to anticipate the onset. Cytokines released by type 1 T helper cells are thought to play a pivotal role in acute graft-versus-host disease aGVHD. The ability to predict the likely occu...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2005.10.002
更新日期:2006-01-01 00:00:00
abstract::Although natural killer cells lyse targets without pre-sensitization, and in an MHC-unrestricted manner, they can also respond to healthy allogeneic cells of different MHC type. Such alloreactivity is a consequence of NK cells using clonally distributed, inhibitory MHC class I receptors to achieve tolerance to healthy...
journal_title:Transplant immunology
pub_type: 杂志文章,评审
doi:10.1016/j.trim.2006.09.022
更新日期:2006-12-01 00:00:00
abstract::We present management strategies utilised for the first case of an urgent live-donor ABO incompatible B blood group renal transplant, in a patient with a prior A blood group lung transplant for cystic fibrosis. Three years on, renal function is excellent and stable, whilst lung function has improved. ...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2016.09.002
更新日期:2016-11-01 00:00:00
abstract::Treatment with autologous bone marrow transplantation (ABMT) can change the natural history of diabetes in patients with new-onset Type 1 diabetes (T1D). Effects of syngeneic bone marrow transplantation (syn-BMT) on diabetic nephropathy were studied in streptozotocin-induced diabetic mice. Diabetic mice received sibli...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2009.12.003
更新日期:2010-02-01 00:00:00
abstract::Adoptive cell therapies involving cell manipulation to achieve tolerance are increasingly being studied in animal models and in human trials. We have demonstrated that the specific removal of allo-stimulated dividing cells (or "pruning") promotes long-term allograft survival across a major MHC mismatch in transplant m...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2014.03.002
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:The immunomodulator, FTY720, lowers the peripheral lymphocyte count (PLC) by inducing migration of circulating lymphocytes to secondary lymphoid organs. We investigated the efficacy of mono- vs. combined-FTY720/CsA therapy on graft survival (GS) and on lowering the PLC in a solid organ and a skin graft model,...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(01)00031-4
更新日期:2001-02-01 00:00:00
abstract::Experimental data show that relatively low concentrations of 15-deoxyspergualin (DSG) inhibit the induction of cytotoxic T lymphocytes (CTL) and the generation of antibody-producing cells. Considerably higher concentrations of DSG are required to inhibit proliferative responses. In this in vitro study, the effects of ...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(96)80007-4
更新日期:1996-06-01 00:00:00
abstract::Dendritic cells (DC) are considered to be the major cell type responsible for induction of primary immune responses. While they have been shown to play a critical role in eliciting allosensitization via the direct pathway, there is evidence that maturational and/or activational heterogeneity between DC in different do...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(00)00010-1
更新日期:2000-03-01 00:00:00
abstract:INTRODUCTION:Glutathione (GSH) is added to University of Wisconsin (UW) organ preservation solution to protect against oxidative stress. This study assesses the effect of GSH-supplementation on endothelial function in tissues subjected to cold ischaemia and compares its effects to a mono-ethyl ester equivalent (GSH-MEE...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2007.06.002
更新日期:2007-11-01 00:00:00
abstract::Mixed lymphocyte reaction (MLR) assays were performed serially over 24 months in 19 first cadaver renal transplant recipients. Immunosuppression consisted of cyclosporine, methylprednisolone and azathioprine. Cyclosporine was withdrawn at 6 months postoperatively. The MLR reactivity gradually decreased over the first ...
journal_title:Transplant immunology
pub_type: 临床试验,杂志文章
doi:10.1016/s0966-3274(98)80016-6
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:To investigate the expression and significance of Sirt1 in renal allografts at the early stage of chronic renal allograft dysfunction (CRAD). METHODS:CRAD rat models were established using classical orthotopic F344-Lewis kidney transplantation. F344 and Lewis uninephrectomized rats were used as controls. Twe...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2018.02.006
更新日期:2018-06-01 00:00:00
abstract::Organ transplantation is an effective way to treat many end-stage diseases. In order to overcome post-transplant rejection, immunosuppressive agents have been widely used, but the long-term survival of transplanted organs still has not been achieved in the clinic. For decades, tolerance is the "holy grail" that transp...
journal_title:Transplant immunology
pub_type: 杂志文章,评审
doi:10.1016/j.trim.2019.101250
更新日期:2020-02-01 00:00:00
abstract::Administration of anti-intercellular adhesion molecule (ICAM)-1 monoclonal antibody (mAb) plus anti-lymphocyte function associated antigen (LFA)-1 mAb induces tolerance in murine cardiac transplantation, while anti-vascular cell adhesion molecule (VCAM)-1 mAb plus anti-very late antigen (VLA)-4 mAb administration prol...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(99)80021-5
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:Every transplanted organ relies on a reliable and sound vascular system. Therefore, our study focused on the investigation if platelet inhibition alone or combined with mTOR-inhibition has a beneficial effect on the microvascular integrity in allogeneic murine skin grafts. METHODS:Skin transplantation was p...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2015.09.005
更新日期:2015-11-01 00:00:00
abstract::Cytokines are important factors determining the outcome of transplantation since host ability in cytokine production may be affected by cytokine gene polymorphisms. The aim of the present study was to investigate the effect of IL-17, IL-23R and IL-21 gene polymorphisms in the outcome of kidney transplantation. A total...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2013.09.006
更新日期:2014-01-01 00:00:00
abstract::Models of severe combined immuno-deficient (SCID) mice reconstituted with a competent human immune system represent a valuable tool for the study of human immune responses in vivo. Reconstitution with human cells can be achieved using large numbers of peripheral blood lymphocytes, but levels of engraftment are poor an...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2005.07.002
更新日期:2005-12-01 00:00:00
abstract::The induction of antigen-specific T cell tolerance and its maintenance in the periphery are critical for the immune system to prevent autoaggressive immune responses. Our current state of knowledge about the immunoregulatory mechanisms responsible for T cell tolerance in the periphery offers new possibilities for immu...
journal_title:Transplant immunology
pub_type: 杂志文章,评审
doi:10.1016/S0966-3274(03)00057-1
更新日期:2003-07-01 00:00:00
abstract::Adhesion molecule expression is an important event during early transplant failure. The aim of the present study was to examine the release of adhesion molecules during the first minutes of kidney allograft reperfusion in relation to delayed graft function and acute graft rejection. We enrolled 49 renal transplant rec...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2006.08.002
更新日期:2006-11-01 00:00:00
abstract::Today, most clinically used methods for analysis of alloreactivity in organ transplantation are based on humoral immunity. In order to study the cellular alloresponse, a rat kidney transplantation model with culturing of graft infiltrating lymphocytes was developed. Kidney transplantations between inbred rat strains w...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/s0966-3274(99)80001-x
更新日期:1999-12-01 00:00:00
abstract::CD4(+)CD25(high) T cells named regulatory T (Treg) cells are generated and play a key role in the induction and maintenance of transplant tolerance in organ recipients. Interleukin-2 (IL-2) enhance the development of effector cells and is essential for generation of Treg cells. The effect of the anti-CD25 monoclonal a...
journal_title:Transplant immunology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.trim.2008.01.005
更新日期:2008-04-01 00:00:00
abstract:BACKGROUND:Peroxisome Proliferator-Activated Receptor gamma (PPARgamma) is a nuclear receptor that regulates the transcription of genes associated with lipid and glucose metabolism. Recently, it has been shown that PPARgamma modulates the activity of T cells, resulting in inhibition of T cell proliferation and IL-2 rel...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2007.03.003
更新日期:2007-07-01 00:00:00
abstract::Cellular and antibody-mediated rejection processes and also interstitial fibrosis/tubular atrophy (IFTA) lead to allograft dysfunction and loss. The search for accurate, specific and non-invasive diagnostic tools is still ongoing and essential for successful treatment of renal transplanted patients. Molecular markers ...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2016.09.003
更新日期:2016-11-01 00:00:00
abstract::Alloreactive T-cell responses directed against minor histocompatibility (H) antigens, which arise from diverse genetic disparities between donor and recipient outside the MHC, are an important cause of rejection of MHC-matched grafts. Because clinically significant responses appear to be directed at only a few antigen...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2013.10.005
更新日期:2013-12-01 00:00:00
abstract::Mouse hearts transplanted into MHC disparate donors are usually rejected 1 week after placement. It is widely accepted that alloantigen-reactive helper T lymphocytes (HTL) and cytotoxic T lymphocytes (CTL) are the key mediators of acute allograft rejection. This report demonstrates that the presence or absence of 'tra...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/0966-3274(95)80028-x
更新日期:1995-09-01 00:00:00
abstract::Calcineurin inhibitors (CNI) cyclosporine (Csa) and tacrolimus (Tac) are now first intention immunosuppressive drugs in renal transplantation. However, although these treatments are effective for preventing allograft rejection, they are nephrotoxic: they can cause chronic renal dysfunction and degradation of renal gra...
journal_title:Transplant immunology
pub_type: 杂志文章
doi:10.1016/j.trim.2008.09.002
更新日期:2008-11-01 00:00:00