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https://www.readbyqxmd.com/read/28544509/association-of-arhgap22-gene-polymorphisms-with-the-risk-of-type-2-diabetic-retinopathy
#1
Rong Li, Peng Chen, Jing Li, Mengdan Yan, Jingjie Li, Shanqu Li, Hongli Zhu
BACKGROUND: Little is known about the contribution of ARHGAP22 polymorphism to diabetic retinopathy (DR) risk. We performed a case-control study to investigate the associations between ARHGAP22 and the risk of DR in a Chinese Han population. METHODS: A total of 341 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 188 patients with DR and 153 patients without DR...
May 22, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28542425/association-of-atg16l1-gene-haplotype-with-inflammatory-bowel-disease-in-indians
#2
Srinivasan Pugazhendhi, Kirankumar Baskaran, Srikanth Santhanam, Balakrishnan S Ramakrishna
Inflammatory bowel disease (IBD) is characterized by multigenic inheritance. Defects in autophagy related genes are considered to show genetic heterogeneity between populations. We evaluated the association of several single nucleotide polymorphisms (SNPs) in the autophagy related 16 like 1 (ATG16L1) gene with IBD in Indians. The ATG16L1 gene was genotyped for ten different SNPs using DNA extracted from peripheral blood of 234 patients with Crohn's disease (CD), 249 patients with ulcerative colitis (UC) and 393 healthy controls The SNPs rs2241880, rs4663396, rs3792106, rs10210302, rs3792109, rs2241877, rs6737398, rs11682898, rs4663402 and rs4663421 were genotyped using the Sequenom MassArray platform...
2017: PloS One
https://www.readbyqxmd.com/read/28525377/dna-methylation-mediated-silencing-of-microrna-874-is-a-promising-diagnosis-and-prognostic-marker-in-breast-cancer
#3
Lei Zhang, Da-Li Yan, Fan Yang, Dan-Dan Wang, Xiu Chen, Jian-Zhong Wu, Jin-Hai Tang, Wen-Jie Xia
MicroRNA-874 (miR-874) is downregulated in several human cancers and has been suggested to be a tumor suppressor gene. However, the molecular mechanism of miR-874 downregulation in breast cancer has not been well elucidated. Here we aimed to study the aberrant hyper-methylation of CpG sites with the utility of miR-874 downreregulation in breast cancer and evaluate the clinical function of miR-874 as a prognostic marker. The miR-874 expressions in cells and tissues of two breast cancer lines were measured by real-time PCR...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28523967/comparative-assessment-of-dna-methylation-patterns-between-reduced-representation-bisulfite-sequencing-and-sequenom-epityper-methylation-analysis
#4
Aniruddha Chatterjee, Erin C Macaulay, Antonio Ahn, Jackie L Ludgate, Peter A Stockwell, Rob J Weeks, Matthew F Parry, Timothy J Foster, Ingrid M Knarston, Michael R Eccles, Ian M Morison
AIM: Validation of sequencing-based DNA methylation data is an important step for meaningful translation of findings. However, there has been limited assessment of different platforms to validate methylation data from next generation sequencing. METHODS: We performed a comparative methylation analysis between the genome-wide platform of reduced representation bisulfite sequencing with a targeted, Sequenom EpiTyper platform (four genes were analyzed in 15 cell lines covering 52 CpG sites)...
May 19, 2017: Epigenomics
https://www.readbyqxmd.com/read/28521293/determination-of-il-1b-rs16944-and-il-6-rs1800796-genetic-polymorphisms-in-iga-nephropathy-in-a-northwest-chinese-han-population
#5
Daofa Zhang, Maowei Xie, Xiaohong Yang, Yin Zhang, Yan Su, Yanni Wang, Haiyang Huang, Hui Han, Wenning Li, Keying Fu, Huiluan Su, Wentan Xu, Yeguang Han, Ru Wang, Pei Zhang, Wei Wu, Yun Huang, Daojun Chen, Tianbo Jin, Jiali Wei
IgA nephropathy (IgAN) is the most common form of primary glomerulonephritis worldwide, but etiology and pathogenesis continue to be poorly understood. Polymorphisms in the cytokine genes may play a role in the etiology and pathogenesis of IgAN. The incidence of different between diverse ethnic groups suggested important genetic influences on its pathogenesis.We genotype 10 single nucleotide polymorphisms (SNPs) in IL-1B and IL-6 gene using Sequenom Mass-ARRAY technology from 417 IgAN patients and 463 healthy controls of the Chinese Han population...
May 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28508461/foxp3-polymorphisms-in-interstitial-lung-disease-among-chinese-han-population-a-genetic-association-study
#6
Jianyu Yao, Tianze Zhang, Lili Zhang, Kaiyu Han, Linyou Zhang
INTRODUCTION: Both genetic and environmental factors are implicated in the pathogenesis of interstitial lung disease (ILD). Single-nucleotide polymorphisms (SNPs) in FOXP3 genes were implicated in the causation of some autoimmune diseases; however, association of these genes and ILD has not been reported. OBJECTIVES: To investigate whether FOXP3 polymorphisms are associated with ILD in a representative Chinese population. METHODS: One hundred and fifty-seven ILD patients and 170 healthy controls were recruited; SNPs were genotyped by the Sequenom MassARRAY platform and SHEsis was used to estimate the haplotype frequencies of SNPs...
May 15, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28499394/sar1a-promoter-polymorphisms-are-not-associated-with-fetal-hemoglobin-in-patients-with-sickle-cell-disease-from-cameroon
#7
Gift Dineo Pule, Valentina Josiane Ngo Bitoungui, Bernard Chetcha Chemegni, Andre Pascal Kengne, Ambroise Wonkam
BACKGROUND: Reactivation of adult hemoglobin (HbF) is currently a dominant therapeutic approach to sickle cell disease (SCD). In this study, we have investigated among SCD patients from Cameroon, the association of HbF level and variants in the HU-inducible small guanosine triphosphate-binding protein, secretion-associated and RAS-related (SAR1a) protein, previously shown to be associated with HbF after HU treatment in African American SCD patients. RESULTS: Only patients >5 years old were included; hemoglobin electrophoresis and a full blood count were conducted upon arrival at the hospital...
May 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28490462/genome-wide-dna-methylation-analysis-reveals-gabbr2-as-a-novel-epigenetic-target-for-egfr-19-deletion-lung-adenocarcinoma-with-induction-erlotinib-treatment
#8
Xiaomin Niu, Fatao Liu, Yi Zhou, Zhen Zhou, Daizhan Zhou, Ting Wang, Ziming Li, Xiangyun Ye, Yongfeng Yu, Xiaoling Weng, Hong Zhang, Junyi Ye, Meilin Liao, Yun Liu, Zhiwei Chen, Shun Lu
Purpose: The last decade has witnessed the rapid development of personalized targeted therapies in lung cancer. It is still unclear whether epigenetic changes are involved in the response to tyrosine kinase inhibitor (TKI) treatment in epidermal growth factor receptor (EGFR) mutated lung cancer. <p>Experimental Design: Methyl-sensitive cut counting sequencing (MSCC) was applied to investigate the methylation changes in paired tissues before and after erlotinib treatment for 42 days with partial response (PR) from stage IIIa (N2) lung adenocarcinoma patients (N=2) with EGFR 19 deletion...
May 10, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28489066/two-single-nucleotide-polymorphisms-rs2431697-and-rs2910164-of-mir-146a-are-associated-with-risk-of-coronary-artery-disease
#9
Yaqin Wang, Xintong Wang, Zhenyu Li, Lulu Chen, Luping Zhou, Chaopeng Li, Dong-Sheng Ouyang
The coronary artery disease (CAD) is one of the most severe cardiovascular diseases. MicroRNA-146a (miR-146a) influences the pathology of cardiovascular diseases. Two single nucleotide polymorphisms (SNPs) of miR-146a (rs2431697 and rs2910164) have been reported to alter the function or expression of microRNA. The purpose of this study is to evaluate the association between miR-146a gene polymorphism and the risk of CAD in the Chinese population. A total of 353 CAD patients and 368 controls were recruited, and SNPs were analyzed by the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and Sequenom MassARRAY system...
May 10, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28477018/variants-in-the-cxcl12-gene-was-associated-with-coronary-artery-disease-susceptibility-in-chinese-han-population
#10
Junbo Zhang, Huijun Ma, Jie Gao, Shu Kong, Jiangtao You, Ying Sheng
BACKGROUND: Coronary artery disease (CAD) is one of the most serious diseases all around the world. Previous studies have shown the function of CXCL12 in the process of atherosclerosis. The aim of this research is to examine whether variants of CXCL12 contribute to CAD. MATERIALS AND METHODS: To examine whether variants of CXCL12 contribute to CAD, we selected 6 single nucleotide polymorphisms (SNPs) of CXCL12, and genotyped by Sequenom MassARRAY technology in 597 CAD patients and 685 healthy control...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28466400/the-relationship-of-19-functional-polymorphisms-in-iodothyronine-deiodinase-and-psychological-well-being-in-hypothyroid-patients
#11
Yoon Young Cho, Hye Jeong Kim, Hye Won Jang, Tae Hyuk Kim, Chang-Seok Ki, Sun Wook Kim, Jae Hoon Chung
PURPOSE: Levothyroxine supplementation is insufficient for the management of one tenth of patients with hypothyroidism. Iodothyronine deiodinases have been suggested to play a role in residual hypothyroid symptoms of these patients by controlling local thyroid hormone homeostasis. Previous research has suggested a relationship between commonly inherited variations in type 2 iodothyronine deiodinase and impaired well-being. We evaluated the prevalence of iodothyronine deiodinase genotypes and their association with psychological well-being in the Korean hypothyroid population...
May 2, 2017: Endocrine
https://www.readbyqxmd.com/read/28455573/filaggrin-gene-polymorphism-associated-with-epstein-barr-virus-associated-tumors-in-china
#12
Yang Yang, Wen Liu, Zhenzhen Zhao, Yan Zhang, Hua Xiao, Bing Luo
Mutations of filaggrin gene (FLG) have been identified as the cause of ichthyosis vulgaris, while recently FLG mutations were found to be associated with gastric cancer. This study aimed to investigate the association of filaggrin polymorphism with Epstein-Barr virus-associated tumors in China. A total of 200 patients with three types of tumors and 117 normal control samples were genotyped at three common FLG mutation loci (rs3126085, K4671X, R501X) by using Sequenom MassARRAY technique. The χ (2) test was used to evaluate the relationship between the mutation and the three kinds of tumors...
April 28, 2017: Virus Genes
https://www.readbyqxmd.com/read/28454697/tissue-differences-in-dna-methylation-changes-at-ahrr-in-full-term-low-birth-weight-in-maternal-blood-placenta-and-cord-blood-in-chinese
#13
Fu-Ying Tian, Marie-France Hivert, Xiaozhong Wen, Chuanbo Xie, Zhongzheng Niu, Lijun Fan, Matthew W Gillman, Wei-Qing Chen
INTRODUCTION: Very few study addressed the relationship between Aryl-hydrocarbon receptor repressor (AHRR) DNA methylation and low birth weight, especially in multiple tissues of mother-infant pairs. In this study, we aimed to investigate AHRR DNA methylation modification in cord blood, placenta and maternal blood between full term low birth weight (FT-LBW) and full term normal birth weight (FT-NBW) newborns. METHODS: We enrolled 90 FT-LBW and 90 FT-NBW mother-infant pairs, of which all placenta and cord blood samples were collected while 45 maternal blood samples of each group were collected...
April 2017: Placenta
https://www.readbyqxmd.com/read/28450949/genetic-variation-in-the-3-untranslated-region-of-pak1-influences-schizophrenia-susceptibility
#14
Juan Jiang, Jianxiong Long, Weijun Ling, Guifeng Huang, Li Su
The present study aimed to investigate the association of two polymorphisms (rs2844337 and rs11237200) in the P21 protein (cell division control protein 42/Rac)-activated kinase 1 gene with susceptibility to schizophrenia (SCZ) in Chinese Zhuang and Chinese Han populations. A total of 700 patients with SCZ and 700 healthy controls were recruited. Rs2844337 and rs11237200 polymorphisms were genotyped using Sequenom technology. A total of 591 patients completed the Positive and Negative Syndrome Scale (PANSS) assessment...
March 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28448718/cannabis-use-by-women-during-pregnancy-does-not-influence-infant-dna-methylation-of-the-dopamine-receptor-drd4
#15
Peter D Fransquet, Delyse Hutchinson, Craig A Olsson, Steve Allsop, Elizabeth J Elliott, Lucinda Burns, Richard Mattick, Richard Saffery, Joanne Ryan
BACKGROUND: Maternal cannabis use in pregnancy is linked with long-term adverse behavioral outcomes in offspring. Epigenetic processes established in utero that affect dopaminergic (reward) signaling may mediate risks. Associations between cannabis use and offspring DNA methylation have not been investigated; however, maternal tobacco smoking in pregnancy is associated with distinct patterns of DNA methylation at birth and beyond. OBJECTIVES: To determine whether maternal cannabis use is associated with methylation of the dopamine receptor gene DRD4 promoter in infants...
April 27, 2017: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/28446801/genetic-susceptibility-to-salt-sensitive-hypertension-in-a-han-chinese-population-a-validation-study-of-candidate-genes
#16
Zheng Liu, Han Qi, Bin Liu, Kuo Liu, Jingjing Wu, Han Cao, Jie Zhang, Yuxiang Yan, Yan He, Ling Zhang
Salt-sensitive hypertension is a complex disease associated with genetic factors. This study aimed to identify the association between 29 candidate single-nucleotide polymorphisms and salt-sensitive hypertension in a Han Chinese population. Sixty-three participants with salt-sensitive hypertension and 279 controls with salt-resistant hypertension were recruited. A modified Sullivan's acute oral saline load and diuresis shrinkage test was used to detect blood pressure salt sensitivity. Lifestyle risk factors were obtained via a questionnaire...
April 27, 2017: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/28442423/slc6a1-gene-involvement-in-susceptibility-to-attention-deficit-hyperactivity-disorder-a-case-control-study-and-gene-environment-interaction
#17
Fang-Fen Yuan, Xue Gu, Xin Huang, Yan Zhong, Jing Wu
Attention-deficit/hyperactivity disorder (ADHD) is an early onset childhood neurodevelopmental disorder with an estimated heritability of approximately 76%. We conducted a case-control study to explore the role of the SLC6A1 gene in ADHD. The genotypes of eight variants were determined using Sequenom MassARRAY technology. The participants in the study were 302 children with ADHD and 411 controls. ADHD symptoms were assessed using the Conners Parent Symptom Questionnaire. In our study, rs2944366 was consistently shown to be associated with the ADHD risk in the dominant model (odds ratio [OR]=0...
April 23, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28442395/association-of-genetic-variations-in-il-6-il-6r-pathway-genes-with-gastric-cancer-risk-in-a-chinese-population
#18
Jian-Zhi Zhang, Chang-Ming Liu, Hui-Ping Peng, Ying Zhang
Interleukin-6 (IL-6) and its receptor (IL-6R) were regarded to be responsible for the occurrence of gastric cancer for their regulation roles in the inflammation. The genetic variations in these two genes (IL-6: rs6949149, rs1800796, rs10499563 and IL-6R:rs2228145) have been suggested to be associated with gastric cancer risk. However, the published results were inconsistent among subjects of different ethnicity. To evaluate such an association in Chinese population, we carried out this case-control study based on 473 patients with gastric cancer and 474 healthy controls, whose genotype were detected by the Sequenom MassARRAY platform, and Helicobacter pylori infection was assessed by immunogold testing kit...
April 22, 2017: Gene
https://www.readbyqxmd.com/read/28430632/association-analysis-of-apo-gene-polymorphisms-with-ischemic-stroke-risk-a-case-control-study-in-a-chinese-han-population
#19
Rongjun Xiao, Shuaiqi Sun, Jiayi Zhang, Yongri Ouyang, Ning Zhang, Min Yang, Tianbo Jin, Ying Xia
This study aimed to assess the association of APO gene polymorphisms and ischemic stroke risk in a Chinese Han population. In this case-control study, we geno-typed 14 single nucleotide polymorphisms (SNPs) in 3 APO genes in 488 cases and 503 controls using Sequenom Mass-ARRAY technology and evaluated their association with ischemic stroke using the χ2 and genetic model analysis. In the allelic model analysis, we determined three SNPs were significantly associated with ischemic stroke: rs693 with a p value of 0...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28427759/polymorphisms-in-cyp2c8-and-cyp3a5-genes-in-the-nigerian-population
#20
Ayorinde Adehin, Oluseye Oladotun Bolaji, Martin A Kennedy
Polymorphisms in CYP2C8 and CYP3A5 genes have implications for responses elicited by the ingestion of some xenobiotics, the metabolism of which are mediated by these enzymes. CYP2C8*2, CYP2C8*3, CYP3A5*3, CYP3A5*6 and CYP3A5*7 are a few functionally-relevant variants of these genes which this study provides data for, in the Nigerian population. Blood samples were processed for genomic DNA from 178 unrelated subjects spread across Nigerian ethnicities and screened for these polymorphism through the Sequenom iPLEX MassARRAY platform...
September 14, 2016: Drug Metabolism and Pharmacokinetics
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