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Xiaoqing Gong, Shenghui Mei, Xindi Li, Xingang Li, Heng Zhou, Yonghong Liu, Anna Zhou, Li Yang, Zhigang Zhao, Xinghu Zhang
Thiopurines (TPRs) are effective drugs in treating neuromyelitis optica spectrum disorders (NMOSD) and other diseases. TPRs' toxicity is mainly imputed to thiopurine S-methyltransferase (TPMT) activity. In Chinese population, the most common and important variation of TPMT is TPMT*3C (rs1142345). This study aims to reveal the association between TPMT activity and genetic polymorphisms of TPMT in patients with NMOSD in China. An LC-MS/MS method was used to evaluate the TPMT activity by using 6-mercapthioprine as substrate in human erythrocyte hemolysate via 1 h incubation at 37 °C to form its methylated product 6-methylmercaptopurine (6-MMP)...
March 10, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang, Chaowei Fu
BACKGROUND: There are disparities for the association between uncoupling proteins (UCP) and type 2 diabetes (T2DM). The study was to examine the associations of genetic variants of UCP2 and UCP3 with prediabetes and T2DM in a rural Chinese population. METHODS: A population-based case-control study of 397 adults with T2DM, 394 with prediabetes and 409 with normal glucose tolerance (NGT) was carried out in 2014 in a rural community in eastern China. Three groups were identified through a community survey and the prediabetes and NGT groups were frequently matched by age and gender with the T2DM group and they were not relatives of T2DM subjects...
March 12, 2018: BMC Medical Genetics
Xue-Mei Zhong, Li Li, Huai-Zhen Wang, Xiao-Guang Zou, Ping Zhang, Mireban Rexiati, Maimaitiaili Tuerxun, Jie Ren, Mukeremu Yasen, Juan Zhang, Ai-Fang Zheng, Paierda Aini
Background: Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1-antitrypsin (Alpha-1-AT) expression affects the occurrence and progression of chronic obstructive pulmonary disease (COPD). We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region. Methods: From March 2013 to December 2015, a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region...
March 20, 2018: Chinese Medical Journal
Sheng Chen, Juan Zhang, Qi-Bing Liu, Jing-Cong Zhuang, Lei Wu, Yong-Feng Xu, Hong-Fu Li, Zhi-Ying Wu, Bao-Gou Xiao
Background: Multiple sclerosis (MS) is a common central nervous system autoimmune disorder. Increasing number of genome-wide association study (GWAS) analyses hint that MS is strongly associated with genetics. Unfortunately, almost all the GWAS analyses were Caucasian population based. Numbers of risk loci might not be replicated in Chinese MS patients. Hence, we performed a MassArray Assay to genotype the previously reported variants located in the transcription regulation genes in order to elucidate their role in the Chinese MS patients...
March 20, 2018: Chinese Medical Journal
Jia Liu, Lu Wang, Yun Qian, Juncheng Dai, Chong Shen, Guangfu Jin, Zhibin Hu, Hongbing Shen
AIM: Dozens of susceptibility loci have been identified by type 2 diabetes (T2D) genome wide association study (GWAS) in Europeans. In our previous studies, we systematically evaluated the association of 48 susceptibility loci with T2D risk in Chinese Hans. Because dyslipidemia and hyperglycemia are implicated in the pathogenic process of T2D, we further evaluated whether these 48 single nucleotide polymorphisms (SNPs) were related to fasting plasma glucose (FPG) or lipid levels in Chinese Hans...
March 5, 2018: Diabetes Research and Clinical Practice
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
March 6, 2018: Fetal and Pediatric Pathology
Guoxia Ren, Xu Liu, Zhendong Yu, Jingjie Li, Fanglin Niu, Tianbo Jin, Jikui Liu, Mingwei Chen
In this study, we investigated the association between the polymorphisms of telomerase reverse transcriptase ( TERT ) gene and the risk of chronic hepatitis B (CHB) in a Chinese Han population. Four single nucleotide polymorphisms (SNPs) in TERT (rs10069690, rs2242652, rs2853677 and rs2853676) were genotyped from 224 CHB patients and 300 healthy controls using the Sequenom Mass-ARRAY platform. We used genetic model, haplotype analyses, chi-square test, logistic regression analysis to evaluate the association between SNPs and CHB risk...
February 6, 2018: Oncotarget
S-M Wang, W-X Zeng, W-S Wu, L-L Sun, D Yan
WHAT IS KNOWN AND OBJECTIVE: Thymidylate synthase (TYMS) is an important target for methotrexate (MTX). Genetic variations in the TYMS gene contribute to the differences in treatment responses to MTX. The aim of this study was to investigate the distribution of a microRNA (miRNA) binding site polymorphism (rs2790 A > G) in the 3'-untranslated region (3'-UTR) of TYMS and its association with MTX concentration and haematological toxicity in Chinese paediatric patients with acute lymphoblastic leukaemia (ALL)...
March 3, 2018: Journal of Clinical Pharmacy and Therapeutics
Emmet J Jordan, Maeve A Lowery, Olca Basturk, Peter J Allen, Kenneth H Yu, Viviane Tabar, Kathryn Beal, Diane L Reidy, Yoshiya Yamada, Yelena Janjigian, Ghassan K Abou-Alfa, Eileen M O'Reilly
PURPOSE: To assess clinical characteristics of patients with metastatic pancreas ductal adenocarcinoma (PDAC) and brain metastases (BM), and to assess somatic and germ-line molecular profiles where performed. PATIENTS AND METHODS: Patients with PDAC and BM between January 1990 and January 2016 were identified. Molecular characteristics of somatic and germ-line testing where performed in the subset of patients who had provided informed consent. Somatic alterations were assessed by either MSK-IMPACT testing (>340 key cancer genes) or Sequenom testing (8-gene panel)...
February 7, 2018: Clinical Colorectal Cancer
Harley M Smith, Brady P Smith, Norma B Morales, Sam Moskwa, Peter R Clingeleffer, Mark R Thomas
Plant parasitic nematodes, including root knot nematode Meloidogyne species, cause extensive damage to agriculture and horticultural crops. As Vitis vinifera cultivars are susceptible to root knot nematode parasitism, rootstocks resistant to these soil pests provide a sustainable approach to maintain grapevine production. Currently, most of the commercially available root knot nematode resistant rootstocks are highly vigorous and take up excess potassium, which reduces wine quality. As a result, there is a pressing need to breed new root knot nematode resistant rootstocks, which have no impact on wine quality...
2018: PloS One
Yaqin Wang, Yingying Tian, Peiyu Lv, Lulu Chen, Wei Luo, Xian Jing, Hui Li, Zhirong Tan, Yicheng Wang, Honghao Zhou, Dong-Sheng Ouyang
The pharmacokinetics of statins show substantial inter-subject variability. Increasing systemic exposure of statins may lead to adverse drug reactions such as myopathy. The variation in statin pharmacokinetics is partly explained by genetic factors. OATP1B1, coded by SLCO1B1 transports a large number of therapeutic drugs, such as atorvastatin. Here we investigated the effect of SLCO1B1 polymorphism on the pharmacokinetics of atorvastatin and its metabolites. Two pharmacokinetic studies were conducted in Chinese Han volunteers and 132 volunteers were enrolled in our study as 72 in trial 1 and 60 in trial 2...
June 1, 2017: Die Pharmazie
Liang Sang, Zhi Lv, Li-Ping Sun, Qian Xu, Yuan Yuan
AIM: To investigate the interactions of the DNA repair gene excision repair cross complementing group 5 (ERCC5) and the metabolic gene glutathione S-transferase pi 1 (GSTP1) and their effects on atrophic gastritis (AG) and gastric cancer (GC) risk. METHODS: Seven ERCC5 single nucleotide polymorphisms (SNPs) (rs1047768, rs2094258, rs2228959, rs4150291, rs4150383, rs751402, and rs873601) and GSTP1 SNP rs1695 were detected using the Sequenom MassARRAY platform in 450 GC patients, 634 AG cases, and 621 healthy control subjects in a Chinese population...
February 7, 2018: World Journal of Gastroenterology: WJG
Yan Wu, Hua Yu, Hai-Qin Tang, Yong Su, Tian-Lu Shi, Sheng Liu, Quan Xia, Du-Juan Xu
BACKGROUNDS: Clopidogrel is widely used in Coronary Heart Disease (CHD) patients undergoing percutaneous coronary intervention (PCI) to prevent thrombotic events. However, clopidogrel response variability (CRV) may affect the patients' clinical outcomes. The current data have shown that genetic factors play an important role in CRV. The aim of this research is to investigate the association of pregnane X receptor (PXR, also called NR1I2) genetic polymorphisms with the clinical efficacy of clopidogrel in patients undergoing PCI...
February 9, 2018: Gene
Wen-Lei Shi, Yong-Biao Zhang, Wei Wei, Hong-Yan Gao, Yong-Hua Huang
BACKGROUND: Leukoaraiosis, a subtype of cerebral small vessel disease, is a common condition found on CT or MRI in elderly people. Leukoaraiosis is strongly associated with cognitive impairment, mental abnormality, gait disorders and urinary dysfunction. However, the genetic risk of leukoaraiosis is largely unknown. OBJECTIVE: The goal of this study is to identify the loss-of-function mutations for leukoaraiosis in Chinese. METHODS: We performed whole-genome sequencing on 11 leukoaraiosis patients and further validated the candidate mutations and tags of the candidate genes in 304 individuals including 160 patients and 144 healthy controls using Sequenom MassARRAY platform...
February 8, 2018: Biochemical and Biophysical Research Communications
X F Huang, W Chi, D Lin, M L Dai, Y L Wang, Y M Yang, Z B Jin, Y Wang
AAU (acute anterior uveitis) is the most common entity of uveitis characterized by acute vision loss and violent sore eyes. IL-33 and IL-1RacP have been found to play crucial roles in the innate immune system. In the present study, we investigated the association of IL33 and IL1RAP genes with AAU. A total of 549 AAU patients and 1080 unrelated healthy controls were recruited for this study. Ten single nucleotide polymorphisms (SNPs) were genotyped using Sequenom Mass ARRAY technology. Our findings demonstrated that IL1RAP-rs3773978 significantly associated with AAU and could serve as a genetic risk marker in Chinese AAU patients...
February 7, 2018: Current Molecular Medicine
Feng Zhou, Tie Guo, Lv Zhou, Yanhui Zhou, Dan Yu
Background: Stroke is an extremely complicated disease caused by multiple factors. Epidemiological studies have shown that genetic factors contribute to the pathogenesis of stroke. There is still little research on the effect of ApoB gene on stroke in Chinese Han population. The purpose of our research was to explore the effect of ApoB gene polymorphism on the genetic susceptibility to Ischemic Stroke in Chinese Han male population. Materials and methods: 7 polymorphisms in ApoB gene were selected and genotyped using Sequenom MassARRAY in 325 ischemic stroke male patients and 399 healthy male controls in Chinese Han population...
January 5, 2018: Oncotarget
Iren Csala, Peter Dome, Judit Lazary
Backgorund: There is accumulating evidence on the association between the cholinergic system and nicotine dependence (ND) in the literature and the bidirectional relationship of ND and depression. However, the molecular background of the development of ND and related affective phenotype is not clear. METHODS: We recruited 255 tretament-seeking smokers into our study. For phenotyping assessments we used the Fagerstrom Nicotine Dependence Test; The Minnessotta Nicotine Withdrawal Scale; the Zung Self-Rating Depression Scale and the Parental Bonding Instrument...
December 2017: Neuropsychopharmacologia Hungarica
Judit Lazary, Nora Eszlari, Gabriella Juhasz, Gyorgy Bagdy
BACKGROUND: Accumulating data confirmed that the endocannabinoid system (ECS) is involved in the regulation of stress response and emotional processes, therefore ECS became an important pharmacological target as a potential anxiolytic. Although unequivocal data from animal studies confirmed the relevancy of the ECS in anxious phenotype, human genetic data are poorly available in the literature in this field. In the presented studies we tested possible associations between anxious phenotype and the cannabinoid receptor 1 and the fatty acid amide hydrolase gene polymorphisms...
December 2017: Neuropsychopharmacologia Hungarica
Fabrizio Tabbò, Alessia Nottegar, Francesco Guerrera, Enrica Migliore, Claudio Luchini, Francesca Maletta, Nicola Veronese, Licia Montagna, Marcello Gaudiano, Filomena Di Giacomo, Pier Luigi Filosso, Luisa Delsedime, Giovannino Ciccone, Aldo Scarpa, Anna Sapino, Alberto Oliaro, Enrico Ruffini, Giorgio Inghirami, Marco Chilosi
Strong prognostic markers able to stratify lung adenocarcinoma (ADC) patients are lacking. We evaluated whether a six-immunohistochemical markers panel (TTF1, SP-A, Napsin A, MUC5AC, CDX2 and CK5), defining the putative neoplastic "cell of origin", allows to identify prognostic subgroups among lung ADC. We screened a large cohort of ADC specimens (2003-2013) from Torino Institutional Repository identifying: i) marker positivity by immunohistochemistry ii) main morphological appearance by light microscopy, iii) presence of "hot spot" mutations of candidate genes by Sequenom technology...
January 30, 2018: Human Pathology
Linting Wei, Rongguo Fu, Xinghan Liu, Li Wang, Meng Wang, Qiaoling Yu, Tian Tian, Dan Niu, Tianbo Jin, Zhijun Dai, Jie Gao
BACKGROUND/AIMS: Insulin-like growth factor-1 (IGF-1) plays important roles in cellular proliferation, differentiation, and growth. Previous studies showed that single-nucleotide polymorphisms (SNPs) of IGF-1 are associated with various diseases. This case-control study aimed to examine the relationship between IGF-1 polymorphisms and IgA nephropathy (IgAN) risk in a Chinese Han population. METHODS: We recruited 351 IgAN patients and 310 healthy controls from Northwestern China...
January 24, 2018: Kidney & Blood Pressure Research
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