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Polymorphism and immunosuppression

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https://www.readbyqxmd.com/read/28088792/impact-of-nudt15-polymorphisms-on-thiopurines-induced-myelotoxicity-and-thiopurines-tolerance-dose
#1
Dandan Yin, Xuyang Xia, Junlong Zhang, Shouyue Zhang, Fei Liao, Ge Zhang, Yan Zhang, Qianqian Hou, Xue Yang, Hong Wang, Zhigui Ma, Heyao Wang, Yiping Zhu, Wei Zhang, Yuelan Wang, Bo Liu, Lanlan Wang, Heng Xu, Yang Shu
Thiopurines are widely used as anticancer and immunosuppressive agents. However, life-threatening myelotoxicity has been noticed and largely explained by genetic variations, including NUDT15 polymorphisms (e.g., rs116855232). In this study, we conduct a meta-analysis to investigate the impact of rs116855232 on thiopurines-induced myelotoxicity susceptibility (1752 patients from 7 independent cohorts), as well as on thiopurines intolerance dose (2745 patients from 13 cohorts). Variant allele of rs116855232 contributes 7...
January 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28076390/il-37-confers-protection-against-mycobacterial-infection-involving-suppressing-inflammation-and-modulating-t-cell-activation
#2
Haipeng Liu, Ruijuan Zheng, Peng Wang, Hua Yang, Xin He, Qun Ji, Wenjuan Bai, Hao Chen, Jianxia Chen, Wenxia Peng, Siyu Liu, Zhonghua Liu, Baoxue Ge
Interleukin-37 (IL-37), a novel member of the IL-1 family, plays fundamental immunosuppressive roles by broadly reducing both innate inflammation and acquired immunity, but whether it is involved in the pathogenesis of tuberculosis (TB) has not been clearly elucidated. In this study, single nucleotide polymorphism (SNP) analysis demonstrated an association of the genetic variant rs3811047 of IL-37 with TB susceptibility. In line with previous report, a significant elevated IL-37 abundance in the sera and increased expression of IL-37 protein in the peripheral blood mononuclear cells (PBMC) were observed in TB patients in comparison to healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28061365/primer-design-for-snp-genotyping-based-on-allele-specific-amplification-application-to-organ-transplantation-pharmacogenomics
#3
Luis A Tortajada-Genaro, Rosa Puchades, Ángel Maquieira
Diagnostic methods based on single nucleotide polymorphism (SNP) biomarkers are essential for the real adoption of personalized medicine. Allele specific amplification in a homogeneous format or combined to microarray hybridization are powerful approaches for SNP genotyping. However, primers must be properly selected to minimize cross-reactivity, dimer formation and nonspecific hybridization. This study presents a design workflow diagram for the selection of required oligonucleotides for multiplex assays. Based on thermodynamic restrictions, the oligonucleotide sets are chosen for a specific amplification of wild- and mutant-type templates...
December 29, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#4
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27909648/fc%C3%AE-receptors-in-solid-organ-transplantation
#5
REVIEW
Tomas Castro-Dopico, Menna R Clatworthy
In the current era, one of the major factors limiting graft survival is chronic antibody-mediated rejection (ABMR), whilst patient survival is impacted by the effects of immunosuppression on susceptibility to infection, malignancy and atherosclerosis. IgG antibodies play a role in all of these processes, and many of their cellular effects are mediated by Fc gamma receptors (FcγRs). These surface receptors are expressed by most immune cells, including B cells, natural killer cells, dendritic cells and macrophages...
2016: Current Transplantation Reports
https://www.readbyqxmd.com/read/27898140/ny-subtyp-av-molluscipoxvirus-p%C3%A3-visad-modern-teknik-identifierar-nya-och-ovanliga-patogener-snabbare
#6
Anna-Lena Hammarin, Yvonne Eklund, Maria Karlberg, Morten Bogh, Per Sikora
Molluscum contagiosum is a viral infection of the epidermis characterized by skin-colored papules or nodules frequently with a central depression. Atypical variants may occur, primarily in immunosuppressed individuals. We here report a case of »giant Molluscum contagiosum« in an immunocompetent child. The patient was presented with a fairly smooth nodule of 2 cm in diameter on the ring finger. Molluscipoxvirus-like virus particles were detected by electron microscopy from the nodule, but since the clinical picture was not compatible with MC, next generation sequencing was performed in order to verify the diagnosis...
November 28, 2016: Läkartidningen
https://www.readbyqxmd.com/read/27885697/dynamic-effects-of-cyp3a5-polymorphism-on-dose-requirement-and-trough-concentration-of-tacrolimus-in-renal-transplant-recipients
#7
P Chen, J Li, J Li, R Deng, Q Fu, J Chen, M Huang, X Chen, C Wang
WHAT IS KNOWN AND OBJECTIVE: Tacrolimus is a widely used immunosuppressive drug with marked pharmacokinetic variability partly due to CYP3A5 polymorphism. Our study aimed to investigate the dynamic effects of CYP3A5 genotypes on dose requirement and trough concentration (C0 ) of tacrolimus in renal transplant recipients. METHODS: A total of 194 Chinese renal transplant recipients received oral tacrolimus twice daily. Whole-blood C0 of tacrolimus were measured on the 3rd day, 7th day, 14th day, 1st month, 3rd month and 6th month post-transplantation...
February 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27836206/the-effect-of-polymorphisms-in-pd-1-gene-on-the-risk-of-epithelial-ovarian-cancer-and-patients-outcomes
#8
Yan Li, Hui-Lan Zhang, Shan Kang, Rong-Miao Zhou, Na Wang
OBJECTIVE: Programmed death-1 (PD-1), an important immunosuppressive molecule, plays a key role in tumor-cell-mediated immune escape. In the present study, we evaluated the effect of PD-1 gene polymorphisms on the risk of developing epithelial ovarian cancer (EOC) and patients' outcomes. METHODS: A case-control study was performed in 620 EOC patients and 620 control women. Survival data were available for 258 patients who received platinum-based chemotherapy after cytoreductive surgery...
January 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/27787222/cutaneous-leishmaniasis-caused-by-leishmania-infantum-in-southern-israel
#9
Shalom Ben-Shimol, Orli Sagi, Amir Horev, Yonat Shemer Avni, Mati Ziv, Klaris Riesenberg
Cutaneous leishmaniasis (CL) caused by Leishmania major is common in southern Israel, while Leishmania infantum (sub-strain of L. donovani, causing zoonotic visceral leishmaniasis) infections were rarely reported in Israel and only in other regions. We report the first case of L. infantum infection in southern Israel, presented atypically as CL in an immunosuppressed 47-year old male. The patient was treated with liposomal amphotericin-B and recovered, without extra-cutaneous complications. Diagnosis of L. infantum CL was confirmed by microscopic identification of amastigotes in Gimsa-stained smear of skin lesion, positive blood serology and a positive polymerase chain reaction (PCR) amplification of the internal transcribed spacer 1 genes (ITS1) and restriction fragment length polymorphism (ITS1 PCR-RFLP)...
December 1, 2016: Acta Parasitologica
https://www.readbyqxmd.com/read/27784382/-correlation-of-snp-of-il-2-330t-g-gene-with-genetic-susceptibility-and-efficacy-of-immunosuppressive-therapy-in-patients-with-aplastic-anemia
#10
Qiang Zeng, Hong Chang
OBJECTIVE: To investigate the correlation of single nucleotide polymorphism (SNP) of Interleukin-2(IL-2)-330T/G with genetic susceptibility and the efficacy of immunosuppressive therapy in patients with aplastic anemia. METHODS: The peripheral blood samples from 103 patients with aplastic anemia in our hospital were collected. Out of 103 patients 46 received immuosuppressive therapy and were observed for 4 months, and 100 healthy adults were selected as control...
October 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27779570/the-influence-of-living-donor-shroom3-and-abcb1-genetic-variants-on-renal-function-after-kidney-transplantation
#11
Lin Yan, Yi Li, Jiang-Tao Tang, Yun-Fei An, Li-Mei Luo, Bo Dai, Yun-Ying Shi, Lan-Lan Wang
OBJECTIVE: A genome-wide association study has identified several gene polymorphisms associated with loss of renal function. The effect of these variants on renal function in kidney transplant recipients receiving immunosuppressive treatment is unknown. MATERIALS AND METHODS: A cohort of 189 kidney transplant recipients and their living donors were recruited from West China Hospital of Sichuan University, on whom we assessed the association of five single nucleotide polymorphisms with renal function after kidney transplantation...
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27777962/the-polymorphism-308g-a-of-tumor-necrosis-factor-%C3%AE-gene-modulates-the-effect-of-immunosuppressive-treatment-in-first-kidney-transplant-subjects-who-suffer-an-acute-rejection
#12
Ana Isabel Sánchez-Fructuoso, Isabel Pérez-Flores, Rosalia Valero, Maria Angeles Moreno, Miguel Fernandez-Arquero, Elena Urcelay, Cristina Fernández-Pérez, Jose Luis Santiago
The -308G/A SNP of tumor necrosis factor-alpha (TNF-α) gene affects TNF-α production. As its impact on transplant outcome remains open to debate, we decided to genotype it in a cohort of transplant subjects. A retrospective analysis of 439 first kidney recipients randomly divided into two subgroups (discovery and validation cohorts) was performed to identify the best predictors of acute rejection (AR). The effect on transplant outcome was analyzed by an adjusted logistic regression model. Carriers of the A allele, associated with elevated TNF-α production, presented a higher risk of AR (OR = 2...
2016: Journal of Immunology Research
https://www.readbyqxmd.com/read/27747372/foxp3-rs3761548-polymorphism-is-associated-with-tacrolimus-induced-acute-nephrotoxicity-in-renal-transplant-patients
#13
Zhuo Wu, Qinxia Xu, Xiaoyan Qiu, Zheng Jiao, Ming Zhang, Mingkang Zhong
PURPOSE: The purpose of this study was to investigate the potential impact of FOXP3 and CCDC22 gene polymorphisms on efficacy and safety of tacrolimus (TAC) in renal transplant patients. METHODS: Genetic polymorphisms were detected in 114 Chinese renal transplant patients who were on TAC-based maintenance immunosuppression and were followed up for at least 2 years. The relationships between FOXP3 rs3761547, rs3761548, rs3761549, rs2232365, rs2280883, and CCDC22 rs2294021 polymorphisms and clinical outcomes such as acute rejection, TAC-induced acute nephrotoxicity, and pneumonia were investigated by using Kaplan-Meier estimates and multivariate Cox regression analysis...
January 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27729809/paraneoplastic-pemphigus-a-short-review
#14
Marta Wieczorek, Annette Czernik
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents...
2016: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/27727019/validation-of-a-clinical-grade-assay-to-measure-donor-derived-cell-free-dna-in-solid-organ-transplant-recipients
#15
Marica Grskovic, David J Hiller, Lane A Eubank, John J Sninsky, Cindy Christopherson, John P Collins, Kathryn Thompson, Mindy Song, Yue S Wang, David Ross, Mitchell J Nelles, James P Yee, Judith C Wilber, Maria G Crespo-Leiro, Susan L Scott, Robert N Woodward
The use of circulating cell-free DNA (cfDNA) as a biomarker in transplant recipients offers advantages over invasive tissue biopsy as a quantitative measure for detection of transplant rejection and immunosuppression optimization. However, the fraction of donor-derived cfDNA (dd-cfDNA) in transplant recipient plasma is low and challenging to quantify. Previously reported methods to measure dd-cfDNA require donor and recipient genotyping, which is impractical in clinical settings and adds cost. We developed a targeted next-generation sequencing assay that uses 266 single-nucleotide polymorphisms to accurately quantify dd-cfDNA in transplant recipients without separate genotyping...
October 7, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27721965/association-of-gsto2-n142d-genetic-polymorphism-and-acute-rejection-of-liver
#16
M Khosravi, I Saadat, M H Karimi, S A Malek Hosseini
BACKGROUND: Acute rejection is the main problem in liver transplantation that occurs in the first days or months of transplantation. It includes histological and cellular rejection. Acute histological rejection is confirmed by biopsy. Glutathione S-transferase family is the most important genes in phase II detoxification working in xenobiotic and drug metabolism. GSTO2 is one of the members of this family. GSTO2 (N142D) polymorphism may influence metabolism of immunosuppressive drugs...
2016: International Journal of Organ Transplantation Medicine
https://www.readbyqxmd.com/read/27717793/the-effect-of-cyp3a5-genetic-polymorphisms-on-adverse-events-in-patients-with-ulcerative-colitis-treated-with-tacrolimus
#17
Ayumi Asada, Shigeki Bamba, Yukihiro Morita, Kenichiro Takahashi, Hirotsugu Imaeda, Atsushi Nishida, Osamu Inatomi, Mitsushige Sugimoto, Masaya Sasaki, Akira Andoh
BACKGROUND: Tacrolimus is an immunosuppressive agent, used in the remission induction therapy of ulcerative colitis (UC). AIMS: We investigated the correlation between CYP3A5 genetic polymorphisms and the adverse events in patients with UC. The pharmacokinetics of tacrolimus after oral administration were also analyzed. METHODS: We enrolled 29 hospitalized patients with UC received oral tacrolimus. Genotyping for CYP3A5 A6986G (rs776746) was performed using Custom TaqMan(®) SNP genotyping assays...
January 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27713886/the-role-of-genetics-and-antibodies-in-sepsis
#18
REVIEW
Evangelos J Giamarellos-Bourboulis, Steven M Opal
During the course of sepsis when immunosuppression predominates, the concentrations of circulating immunoglobulins (IGs) are decreased and this is associated with adverse outcomes. The production of IGs as response to invasive bacterial pathogens takes place through a complex pathway starting from the recognition of the antigen (Ag) by innate immune cells that process and present Ags to T cells. The orchestration of T-helper (Th) lymphocyte responses directs specific B cells and ends with the production of IGs by plasma cells...
September 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27702400/association-of-aplastic-anemia-and-foxp3-gene-polymorphisms-in-koreans
#19
Ji Won In, Nuri Lee, Eun Youn Roh, Sue Shin, Kyoung Un Park, Eun Young Song
OBJECTIVES: Aplastic anemia (AA) is characterized by pancytopenia and bone marrow failure, and most acquired AA is an immune-mediated disorder. Regulatory T cells (Tregs) suppressing autoreactive T cells were decreased in AA patients. FoxP3 is a major regulator for the development and function of Tregs. Polymorphism in FoxP3 was shown to be associated with various autoimmune diseases, however, has not yet been studied in AA. In this study, we examined the association between FoxP3 polymorphisms and AA in Korean patients...
October 5, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27692314/comparison-of-genotypes-of-toxoplasma-gondii-in-domestic-cats-from-australia-with-latent-infection-or-clinical-toxoplasmosis
#20
Anthea Brennan, Shannon L Donahoe, Julia A Beatty, Katherine Belov, Scott Lindsay, Katherine A Briscoe, Jan Šlapeta, Vanessa R Barrs
Whether Toxoplasma gondii genotype is associated with disease severity in naturally occurring toxoplasmosis in domestic cats is unknown. The aim of this study was to compare genotypes of T. gondii in latently infected cats with those in cats with clinical toxoplasmosis. Results of a PCR targeting the B1 gene to detect T. gondii DNA were positive in tissue samples from 11 of 17 (65%) seropositive cats tested including four with clinical toxoplasmosis and seven with latent infections, as determined by serology, histologic findings and immunohistochemistry...
September 15, 2016: Veterinary Parasitology
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