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https://www.readbyqxmd.com/read/28321905/differential-increments-of-basal-glucagon-like-1-peptide-concentration-among-slc47a1-rs2289669-genotypes-were-associated-with-inter-individual%C3%A2-variability-in%C3%A2-glycaemic-response-to-metformin-in-chinese-people-with-newly-diagnosed-type-2-diabetes
#1
H Liang, W Xu, L Zhou, W Yang, J Weng
AIM: To elucidate the effects of rs2289669, an intron variant of the SLC47A1 gene, on metformin responses in Chinese people with newly diagnosed Type 2 diabetes. METHODS: We conducted a nationwide, multicentre, prospective clinical trial, in which rs2289669 was genotyped, using Sequenom, in 291 participants. The changes in HbA1c were compared among rs2289669 genotypes, and associations with rs2289669 were evaluated using linear regression analysis. RESULTS: We found that, compared with participants with a homozygous G allele, those carrying the minor A allele had significantly greater HbA1c reduction and increases in basal glucagon-like peptide-1 concentration...
March 21, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28299548/association-study-of-hnf1a-in-women-with-polycystic-ovary-syndrome
#2
Yue Lv, Changfa Sun, Ye Tian, Shigang Zhao, Yuehong Bian, Lei Cheng, Mei Sun, Hong-Bin Liu, Han Zhao, Jinlong Ma
PURPOSE: This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS). METHODS: One thousand one hundred thirty-eight PCOS and 1125 healthy control Han Chinese women were recruited from Reproductive Hospital Affiliated to Shandong University. Serum hormone, blood lipid level, and genomic DNA were obtained from the peripheral blood for this research. Two single-nucleotide polymorphisms (SNPs)-rs2393791 and rs7305618-located in HNF1A were genotyped using the Sequenom MassARRAY system...
March 15, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28278322/promoter-hypermethylation-of-gata3-il-4-and-tgf-%C3%AE-confers-susceptibility-to-vogt-koyanagi-harada-disease-in-han-chinese
#3
Yunyun Zhu, Hongsong Yu, Yiguo Qiu, Zi Ye, Wencheng Su, Jing Deng, Qingfeng Cao, Gangxiang Yuan, Aize Kijlstra, Peizeng Yang
Purpose: We investigated the role of promoter methylation of transcriptional and inflammatory factors, including TBX21, GATA3, RORγt, FOXP3, IFN-γ, IL-4, IL-17A, and TGF-β in the development of Vogt-Koyanagi-Harada (VKH) disease. Methods: The promoter methylation levels were detected by the Sequenom MassARRAY system in CD4+ T cells that were separated from 20 healthy individuals and 32 VKH patients (20 in the active stage without medication, 12 in inactive stage with medication)...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28272917/candidate-gene-analysis-of-breast-cancer-in-the-jordanian-population-of-arab-descent-a-case-control-study
#4
Laith N Al-Eitan, Reem I Jamous, Rame H Khasawneh
This study aimed to investigate whether there are specific polymorphisms within six genes (BRCA1, BRCA2, TP53, DAPK1, MMP9 promoter, and TOX3) that are associated with breast cancer among the Jordanian population. Sequenom MassARRAY system was used to genotype 17 single nucleotide polymorphisms (SNPs) within these genes in 230 Jordanian breast cancer patients and 225 healthy individuals. Three SNPs (MMP9 (rs6065912), TOX3 (rs1420546), and DAPK1 (rs11141901) were found to be significantly associated with an increased risk of breast cancer (p < ...
March 8, 2017: Cancer Investigation
https://www.readbyqxmd.com/read/28264017/ncoa1-is-a-novel-susceptibility-gene-for-multiple-myeloma-in-the-chinese-population-a-case-control-study
#5
Mengle Peng, Guanfei Zhao, Funing Yang, Guixue Cheng, Jing Huang, Xiaosong Qin, Yong Liu, Qingtao Wang, Yongzhe Li, Dongchun Qin
Multiple myeloma (MM) is an incurable malignancy of mature B-lymphoid cells, and its pathogenesis is only partially understood. Previous studies have demonstrated that a number of Non-Hodgkin Lymphoma (NHL) associated genes also show susceptibility to MM, suggesting malignancies originating from B cells may share similar genetic susceptibility. Several recent large-scale genome-wide association studies (GWAS) have identified HLA-I, HLA-II, CXCR5, ETS1, LPP and NCOA1 genes as genetic risk factors associated with NHL, and this study aimed to investigate whether these genes polymorphisms confer susceptibility with MM in the Chinese Han population...
2017: PloS One
https://www.readbyqxmd.com/read/28261975/association-between-genetic-variants-in-the-human-leukocyte-antigen-b-mica-and-takayasu-arteritis-in-chinese-han-population
#6
Xiaoting Wen, Si Chen, Jing Li, Yuan Li, Liubing Li, Ziyan Wu, Hui Yuan, Xinping Tian, Fengchun Zhang, Yongzhe Li
AIM: Takayasu arteritis (TA) is a rare autoimmune disease with ethnic differences. Genome-wide association studies (GWAS) showed novel genetic variants in the human leukocyte antigen (HLA) region were associated with TA. The present study aimed to investigate the linkage between these single nucleotide polymorphisms (SNP) and TA in a Chinese Han population. METHODS: Four hundred and twelve patients from multiple centers and 597 healthy controls were genotyped using the Sequenom MassArray iPLEX platform...
March 5, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28258728/relation-of-obstructive-sleep-apnea-and-a-common-variant-at-chromosome-4q25-to-atrial-fibrillation
#7
Neel J Patel, Quinn S Wells, Shi Huang, Raghu P Upender, Dawood Darbar, Ken Monahan
Obstructive sleep apnea (OSA) and single nucleotide polymorphisms (SNPs) at the 4q25 locus are associated with increased risk of atrial fibrillation (AF). Whether these associations are independent of traditional risk factors for AF remains unknown. Using billing code queries and manual chart review, we assembled a cohort of adults that underwent overnight polysomnography and at least 1 12-lead electrocardiogram. Case status was defined by electrocardiographic data in support of AF or documentation of AF by a staff cardiologist...
February 10, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28247301/il-6-rs1800795-polymorphism-is-associated-with-septic-shock-related-death-in-patients-who-underwent-major-surgery-a-preliminary-retrospective-study
#8
Maria Angeles Jiménez-Sousa, Luz Maria Medrano, Pilar Liu, Amanda Fernández-Rodríguez, Raquel Almansa, Esther Gomez-Sanchez, Alicia Ortega, María Heredia-Rodríguez, Estefanía Gómez-Pesquera, Eduardo Tamayo, Salvador Resino
BACKGROUND: Sepsis is a life-threatening organ dysfunction caused by a dysregulated host response to infection, being the primary cause of death from infection, especially if not recognized and treated promptly. The aim of this study was to analyze whether IL-6 rs1800795 polymorphism is associated with septic shock-related death in European white patients who underwent major surgery. METHODS: We performed a retrospective study on 202 septic shock patients who underwent major cardiac or abdominal surgery...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28236470/effect-of-alcohol-and-its-metabolites-in-lung-cancer-capua-study
#9
Sara M Álvarez-Avellón, Ana Fernández-Somoano, Eva M Navarrete-Muñoz, Jesús Vioque, Adonina Tardón
BACKGROUND AND OBJECTIVE: Alcohol and its metabolites play an important role in carcinogenesis. This effect could be modulated by polymorphisms in genes encoding enzymes involved in the metabolism of alcohol and folate. Therefore, we analyzed the effect of alcohol consumption and ADH1B Arg48His, ADH1B Arg370Cys, ADH1C Ile349Val, ALDH2 Glu540Lys, CYP2E1 RsaI, CYP2E1 DraI, CYP2E1 TaqI and MTHFR C677T polymorphisms on the risk of developing lung cancer. PATIENTS AND METHODS: We included 876 lung cancer cases and 840 controls of the CAPUA hospital-based case-control study...
February 21, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28235556/relation-of-polymorphism-of-arsenic-metabolism-genes-to-arsenic-methylation-capacity-and-developmental-delay-in-preschool-children-in-taiwan
#10
Ru-Lan Hsieh, Chien-Tien Su, Horng-Sheng Shiue, Wei-Jen Chen, Shiau-Rung Huang, Ying-Chin Lin, Ming-I Lin, Shu-Chi Mu, Ray-Jade Chen, Yu-Mei Hsueh
Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital...
February 21, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28231062/relationship-between-metabolic-phenotypes-and-genotypes-of-cyp1a2-and-cyp2a6-in-the-nigerian-population
#11
Ayorinde Adehin, Oluseye O Bolaji, Simran Maggo, Martin A Kennedy
BACKGROUND: CYP1A2 and CYP2A6 are polymorphic drug-metabolising enzymes that are also implicated in the activation of procarcinogens in humans. Some of their alleles and haplotypes, often varied in prevalence across populations, are thought to influence activity despite the known contribution of environmental factors. This study assessed the potential influence of some genetic variants of CYP1A2 and CYP2A6 on metabolic phenotypes in Nigerians. METHODS: Genomic DNA was extracted from blood samples of 100 healthy, unrelated subjects for whom CYP1A2 and CYP2A6 phenotypes had previously been determined, alongside an additional 80 other individuals for whom phenotype data were unavailable...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28228606/genetic-polymorphisms-rs10636-and-rs28366003-in-metallothionein-2a-increase-breast-cancer-risk-in-chinese-han-population
#12
Di Liu, Meng Wang, Tian Tian, Xi-Jing Wang, Hua-Feng Kang, Tian-Bo Jin, Shu-Qun Zhang, Hai-Tao Guan, Peng-Tao Yang, Kang Liu, Xing-Han Liu, Peng Xu, Yi Zheng, Zhi-Jun Dai
Genetic polymorphisms of MT2A are frequently observed in many different cancers. We performed this case-control study, including 459 breast cancer (BC) patients and 549 healthy controls from Northwest China, to evaluate the associations between two common MT2A polymorphisms (rs10636 and rs28366003) and BC risk. The MT2A polymorphisms were genotyped via Sequenom MassARRAY. The individuals with the rs28366003 A/G, A/G-G/G genotypes underwent a higher risk of BC (P<0.0001). And, the minor allele G of rs28366003 was related to an increased BC risk (P<0...
February 22, 2017: Aging
https://www.readbyqxmd.com/read/28221705/association-of-igf1-gene-polymorphism-with-parkinson-s-disease-in-a-han-chinese-population
#13
Yousheng Xiao, Luan Cen, Mingshu Mo, Xiang Chen, Shuxuan Huang, Lei Wei, Shaomin Li, Xinling Yang, Shaogang Qu, Zhong Pei, Pingyi Xu
BACKGROUND: Accumulating evidence suggests that insulin-like growth factor 1 (IGF1) plays an important role in Parkinson's disease (PD) pathogenesis. However, it is not clear if IGF1 polymorphism contributes to PD risk. METHODS: We performed a case-control study in a Han Chinese population that included 512 sporadic PD cases and 535 matched controls. All participants were genotyped for rs972936 using the Sequenom MassARRAY iPLEX platform. Serum IGF1 levels of 61 de novo, drug-naïve PD patients, and 55 age- and sex-matched controls were also measured by enzyme-linked immunosorbent assay (ELISA)...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28219206/-correlations-between-genetic-variations-of-glutathione-synthetase-gene-and-the-response-to-platinum-based-chemotherapy-and-prognosis-of-small-cell-lung-cancer-patients
#14
T Feng, H M Li, P Yuan, D K Yu, F Ma, W W Tan, Z L Du, J Yang, Y Huang, D X Lin, B H Xu, W Tan
Objective: To explore the associations between genetic variations of glutathione synthetase gene (GSS) and response to platinum-based chemotherapy of small cell lung cancer(SCLC), and to analyze the influencing factors on survival. Methods: Four haplotype-tagging single nucleotide polymorphisms (htSNPs) of GSS were genotyped by Sequenom MassARRAY methods in 903 SCLC patients who received platinum-based chemotherapy, and had different response and survival time. The associations between genotypes and platinum-based chemotherapy response were measured by odds ratios (OR) and 95% confidence intervals (CI), adjusted for sex, age, smoking, KPS, staging and chemotherapy regiments, by unconditional logistic regression model...
February 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28216622/effects-of-gene-polymorphisms-in-the-endoplasmic-reticulum-stress-pathway-on-clinical-outcomes-of-chemoradiotherapy-in-chinese-patients-with-nasopharyngeal-carcinoma
#15
Xiao-Bin Guo, Wan-le Ma, Li-Juan Liu, Yu-Ling Huang, Jing Wang, Li-Hua Huang, Xiang-Dong Peng, Ji-Ye Yin, Jin-Gao Li, Shao-Jun Chen, Guo-Ping Yang, Hui Wang, Cheng-Xian Guo
There is considerable inter-individual variabil¬ity in chemoradiotherapy responses in nasopharyngeal carcinoma (NPC) patients receiv¬ing the same or similar treatment protocols. In this study we evaluated the association between the gene polymorphisms in endoplasmic reticulum (ER) stress pathway and chemoradiation responses in Chinese NPC patients. A total of 150 patients with histopathologically conformed NPC and treated with concurrent chemoradiotherapy were enrolled. Genotypes in ER stress pathway genes, including VCP (valosin-containing protein) rs2074549, HSP90B1 rs17034943, CANX (calnexin) rs7566, HSPA5 [heat shock protein family A (Hsp70) member 5] rs430397, CALCR (calcitonin receptor) rs2528521, and XBP1 (X-box binding protein 1) rs2269577 were analyzed by Sequenom MassARRAY system...
February 20, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28212552/association-between-single-nucleotide-polymorphisms-in-adrb2-gnb3-and-gstp1-genes-and-high-altitude-pulmonary-edema-hape-in-the-chinese-han-population
#16
Yongjun He, Lijun Liu, Pengcheng Xu, Na He, Dongya Yuan, Longli Kang, Tianbo Jin
High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs)...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#17
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28211612/genetic-variants-in-the-plasminogen-activator-inhibitor-1-gene-are-associated-with-an-increased-risk-of-radiation-pneumonitis-in-lung-cancer-patients
#18
Bo Liu, Yang Tang, Minxiao Yi, Qingxu Liu, Huihua Xiong, Guangyuan Hu, Xianglin Yuan
Plasminogen activator inhibitor-1 (PAI-1) plays a crucial role in the process of lung injury, although its association with radiation pneumonitis (RP) is unclear. We hypothesized that genetic variants in PAI-1 may influence the risk of RP. In this study, 169 lung cancer patients were genotyped for six single-nucleotide polymorphisms in PAI-1 using the Sequenom MassARRAY system. The risk of RP was evaluated by Cox proportional hazards analyses. The cumulative RP probabilities by genotype were assessed using Kaplan-Meier analyses...
March 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28208084/hypomethylation-of-tissue-factor-pathway-inhibitor-2-in-human-placenta-of-preeclampsia
#19
Xirong Xiao, Xiang Tao, Yongxiang Wang, Lisha Zhu, Yunzhen Ye, Haiyan Liu, Qiongjie Zhou, Xiaotian Li, Yu Xiong
OBJECTIVES: To investigate the expression, DNA methylation status and its regulatory mechanism of tissue factor pathway inhibitor 2 (TFPI-2) in human placenta tissues of preeclampsia (PE). MATERIAL AND METHODS: We studied the mRNA and protein expression and the promoter methylation levels of TFPI-2 in the PE placentas compared with those in the normal pregnant (NP) women. Quantitative real-time polymerase chain reaction, immunohistochemistry, western blot, and Sequenom MassARRAY were used for placenta tissue detection...
February 8, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28199751/impact-of-polymorphisms-in-angiogenesis-related-genes-on-clinical-outcomes-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#20
Wan-Le Ma, Rong Liu, Li-Hua Huang, Chan Zou, Jie Huang, Jing Wang, Shao-Jun Chen, Xiang-Guang Meng, Jing-Ke Yang, Han Li, Guo-Ping Yang, Cheng-Xian Guo
PURPOSE: To assess the relationship between gene polymorphism in angiogenesis-related genes and radiation responses in nasopharyngeal carcinoma (NPC) patients. METHODS: The genotypes of 180 NPC patients were analyzed by Sequenom MassARRAY. The Response Evaluation Criteria in Solid Tumors were used for assessing efficacies. And The criteria of Radiation Therapy Oncology Group or European Organization for Research & Treatment of Cancer were utilized for evaluating acute toxic reactions in response to radiation...
February 15, 2017: Clinical and Experimental Pharmacology & Physiology
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