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https://www.readbyqxmd.com/read/28915626/hdl-cholesterol-concentration-in-pregnant-chinese-han-women-of-late-second-trimester-associated-with-genetic-variants-in-cetp-abca1-apoc3-and-galnt2
#1
Mingxuan Cui, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
OBJECTIVE: To investigate whether HDL-C level in pregnant Chinese Han women of late second trimester correlated with loci in high-density lipoprotein-cholesterol (HDL-C)-related genes found in genome-wide association studies (GWAS). METHODS: Seven single-nucleotide polymorphisms (rs3764261 in CETP, rs1532085 in LIPC, rs7241918 in LIPG, rs1883025 in ABCA1, rs4225 in APOC3, rs1059611 in LPL, and rs16851339 in GALNT2) were genotyped using the Sequenom MassArray system for 1,884 pregnant women...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28905155/association-of-tlr4-gene-polymorphisms-with-childhood-henoch-sch%C3%A3-nlein-purpura-in-a-chinese-population
#2
Hui Xu, Guizhen Jiang, Hongqiang Shen, Wei Li, Jianhua Mao, Yanxiang Pan
Recent studies demonstrated that aberrant activation of Toll-like receptor (TLR) 4 was involved in the pathogenesis of Henoch-Schönlein purpura (HSP). In this study, we evaluated the association between TLR4 gene polymorphisms and the risk of childhood HSP in a Chinese population. A total of 175 HSP patients and 186 controls were recruited in this case-control study. Three single-nucleotide polymorphisms of the TLR4 gene (rs1927914, rs10759932 and rs1927907) were genotyped using the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) and Sequenom MassARRAY system...
September 13, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28903390/association-between-the-functional-polymorphism-ile31phe-in-the-aurka-gene-and-susceptibility-of-hepatocellular-carcinoma-in-chronic-hepatitis-b-virus-carriers
#3
Zhiyu Bao, Lei Lu, Xinyi Liu, Bingqian Guo, Yun Zhai, Yuanfeng Li, Yahui Wang, Bobo Xie, Qian Ren, Pengbo Cao, Yuqing Han, Weihua Jia, Minshan Chen, Xinqiang Liang, Xuan Wang, Yi-Xin Zeng, Fuchu He, Hongxing Zhang, Ying Cui, Gangqiao Zhou
Aurora kinase A (AURKA) is a serine threonine kinase which affects chromosomal separation and mitotic spindle stability through interaction with the centrosome during mitosis. Two functional nonsynonymous polymorphisms of the AURKA gene (Ile31Phe and Val57Ile) have been reported recently. We analyzed the association between the two polymorphisms and risk of the occurrence of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) in the Guangxi population consisting of 348 patients with HCC and 359 control subjects, and then validated the significant association in the Guangdong population consisting of 440 cases and 456 controls...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28903360/variants-in-the-cxcl12-gene-was-associated-with-coronary-artery-disease-susceptibility-in-chinese-han-population
#4
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...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28899534/gene-by-environment-interactions-of-the-clock-pemt-and-ghrelin%C3%A2-loci-with-average-sleep-duration-in-relation-to-obesity-traits%C3%A2-using-a-cohort-of-643-new-zealand-european-children
#5
Mohanraj Krishnan, Andrew N Shelling, Clare R Wall, Edwin A Mitchell, Rinki Murphy, Lesley M E McCowan, John M D Thompson
OBJECTIVES: Modern technology may have desensitised the 'biological clock' to environmental cues, disrupting the appropriate co-ordination of metabolic processes. Susceptibility to misalignment of circadian rhythms may be partly genetically influenced and effects on sleep quality and duration could predispose to poorer health outcomes. Shorter sleep duration is associated with obesity traits, which are brought on by an increased opportunity to eat and/or a shift of hormonal profile promoting hunger...
September 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28885889/a-genetic-variant-of-asct2-hampers-in-vitro-rna-splicing-and-correlates-with-human-longevity
#6
Patrizia D'Aquila, Paolina Crocco, Francesco De Rango, Cesare Indiveri, Dina Bellizzi, Giuseppina Rose, Giuseppe Passarino
Given the role of amino acid regulation for physiological and pathological cell proliferation, we investigated whether the variability of solute carrier family 1, member 5 (SLC1A5, namely ASCT2), encoding for ASCT2 protein, a major glutamine transporter, is related to longevity. A total of 607 differently aged unrelated individuals, 351 very old subjects (≥85 years, range 85-106 years, mean age 93.82 ± 4.44 years) and 256 younger controls (<85 years, range 64-84 years, mean age 73.60 ± 5.70 years) were analyzed...
September 8, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28874978/prevalence-patterns-and-genetic-association-analysis-of-modic-vertebral-endplate-changes
#7
Rishi Mugesh Kanna, Rajasekaran Shanmuganathan, Veera Ranjani Rajagopalan, Senthil Natesan, Raveendran Muthuraja, Kenneth Man Chee Cheung, Danny Chan, Patrick Yu Ping Kao, Anita Yee, Ajoy Prasad Shetty
STUDY DESIGN: A prospective genetic association study. PURPOSE: The etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degeneration phenotypes have not been evaluated. We studied the prevalence of MCs and genetic association of 41 candidate genes in a large Indian cohort. OVERVIEW OF LITERATURE: MCs are vertebral endplate signal changes predominantly observed in the lumbar spine...
August 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28855970/lactase-persistence-in-tunisia-as-a-result-of-admixture-with-other-mediterranean-populations
#8
Yosra Ben Halima, Rym Kefi, Marco Sazzini, Cristina Giuliani, Sara De Fanti, Chokri Nouali, Majdi Nagara, Giacomo Mengozzi, Sahar Elouej, Abdelmajid Abid, Henda Jamoussi, Lotfi Chouchane, Giovanni Romeo, Sonia Abdelhak, Donata Luiselli
BACKGROUND: The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the MCM6 gene and varies widely in frequency among different human populations. Although, evolution of LP-related genetic variants was investigated in many groups of Sub-Saharan African, Middle Eastern, and European ancestry, only few studies have focused on populations from North Africa and no data are especially available from the Tunisian one. For this reason, there is an urgent need to investigate the frequency patterns at these loci in Tunisia since this adaptive trait is implicated in health...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28855605/attempts-to-replicate-genetic-associations-with-schizophrenia-in-a-cohort-from-north-india
#9
Suman Prasad, Triptish Bhatia, Prachi Kukshal, Vishwajit L Nimgaonkar, Smita N Deshpande, B K Thelma
Schizophrenia is a chronic, severe, heritable disorder. Genome-wide association studies, conducted predominantly among Caucasians, have indicated > 100 risk alleles, with most significant SNPs on chromosome 6. There is growing interest as to whether these risk alleles are relevant in other ethnic groups as well. Neither an Indian genome-wide association studies nor a systematic replication of GWAS findings from other populations are reported. Thus, we analyzed 32 SNPs, including those associated in the Caucasian ancestry GWAS and other candidate gene studies, in a north Indian schizophrenia cohort (n = 1009 patients; n = 1029 controls) using a Sequenom mass array...
August 30, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28846454/glis3-and-tyk2-single-nucleotide-polymorphisms-are-not-associated-with-dermatomyositis-polymyositis-in-chinese-han-population
#10
Liubing Li, Si Chen, Qian Wang, Chanyuan Wu, Xiaoting Wen, Funing Yang, Chenxi Liu, Fengchun Zhang, Yongzhe Li
AIM: Racial differences and genetic overlap have been shown to be responsible for the difference in susceptibility to dermatomyositis (DM)/polymyositis (PM) in a variety of populations. Single nucleotide polymorphisms (SNPs) in the GLI-similar 3 (GLIS3) and tyrosine kinase 2 (TYK2) genes have been associated with various autoimmune diseases. The aim of this study was to investigate whether SNPs in GLIS3 (rs7020673, rs10758593, and rs10814916) and TYK2 (rs280519, rs2304256, rs17000730, and rs280501) were associated with an increase in susceptibility to DM/PM in a Chinese Han population...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28844669/polymorphisms-in-autophagy-related-genes-and-the-coal-workers-pneumoconiosis-in-a-chinese-population
#11
Jiali Yuan, Ruhui Han, Ayaaba Esther, Qiuyun Wu, Jingjin Yang, Weiwen Yan, Xiaoming Ji, Yi Liu, Yan Li, Wenxi Yao, Chunhui Ni
Autophagy is an evolutionary conserved intracellular degradation/recycling system that is essential for cellular homeostasis. Dysregulation of this process leads to a number of disorders, including pulmonary fibrosis. However, the genetic association between singe nucleotide polymorphisms of autophagy related genes (ATGs) and the risk of coal workers' pneumoconiosis has not been reported yet. Total of 7 SNPs in ATGs (ATG16, ATG12, ATG5, ATG10) were investigated for their roles in CWP by a case-control study which including 705 CWP patients and 703 control subjects...
October 20, 2017: Gene
https://www.readbyqxmd.com/read/28802080/segmental-allotetraploidy-generates-extensive-homeologous-expression-rewiring-and-phenotypic-diversity-at-the-population-level-in-rice
#12
Yue Sun, Ying Wu, Chunwu Yang, Shuai Sun, Xiuyun Lin, Lixia Liu, Chunming Xu, Jonathan F Wendel, Lei Gong, Bao Liu
Allopolyploidization, i.e., concomitant merging and doubling of two or more divergent genomes in a common nucleus/cytoplasm, is known to instantly alter genome-wide transcriptome dynamics, a phenomenon referred to as "transcriptomic shock". However, the immediate effects of transcriptomic alteration in generating phenotypic diversity at the population level remain under-investigated. Here, we employed the MassARRAY-based Sequenom platform to assess and compare orthologous, allelic, and homeologous gene expression status in two tissues (leaf and root) of a set of randomly chosen individuals from populations of parental rice subspecies (indica and japonica), in vitro "hybrids" (parental mixes), reciprocal F1 hybrids and reciprocal tetraploids at the 5(th) -selfed generation (S5)...
August 12, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28796293/il7ra-polymorphisms-are-not-associated-with-aids-progression
#13
Luz María Medrano, José Luis Jiménez, María A Jiménez-Sousa, Amanda Fernández-Rodíguez, Mónica Gutiérrez-Rivas, José María Bellón, José Ramón Blanco, Alexy Inciarte, Mª Ángeles Muñoz-Fernández, Salvador Resino
BACKGROUND: Our aim was to determine whether α-chain of the IL-7 Receptor (IL7RA) polymorphisms (rs10491434, rs6897932, and rs987106) are associated with the clinical pattern of AIDS progression in ART-naïve HIV-infected patients. METHODS: We carried out a cross-sectional study in 673 HIV-infected patients who were classified into three groups according to the clinical pattern of AIDS progression (188 long-term non-progressors (LTNPs), 334 moderate progressors (MPs), and 151 rapid progressors (RPs))...
August 10, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28778099/predictive-clinical-model-of-tumor-response-after-chemoradiation-in-rectal-cancer
#14
Marisa D Santos, Cristina Silva, Anabela Rocha, Carlos Nogueira, Fernando Castro-Poças, António Araujo, Eduarda Matos, Carina Pereira, Rui Medeiros, Carlos Lopes
Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response. The ability to predict tumor response before treatment may significantly have impact the selection of patients for nCRT in rectal cancer. The aim is to identify potential predictive pretreatment factors for Mandard response and build a clinical predictive model design. 167 patients with locally advanced rectal cancer were treated with nCRT and curative surgery...
July 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28770393/association-of-neural-tube-defects-with-gene-polymorphisms-in-one-carbon-metabolic-pathway
#15
Lirong Cao, Yizheng Wang, Ruiping Zhang, Liang Dong, Hualei Cui, Yulian Fang, Linsheng Zhao, Ouyan Shi, Chunquan Cai
PURPOSE: Neural tube defects (NTDs) are common congenital malformations. In this study, we aimed to explore the association between single nucleotide polymorphisms (SNPs) related to one-carbon metabolism (OCM) and NTDs in Han population of Northern China. METHODS: A case-control study was conducted in 152 children with NTDs and 169 controls. Twenty-nine SNPs in five genes were genotyped by Sequenom MassARRAY technology, and haplotype analysis was done by Haploview4...
August 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28755163/cxcl9-11-polymorphisms-are-associated-with-liver-fibrosis-in-patients-with-chronic-hepatitis-c-a-cross-sectional-study
#16
María Ángeles Jiménez-Sousa, Ana Zaida Gómez-Moreno, Daniel Pineda-Tenor, Luz Maria Medrano, Juan José Sánchez-Ruano, Amanda Fernández-Rodríguez, Tomas Artaza-Varasa, José Saura-Montalban, Sonia Vázquez-Morón, Pablo Ryan, Salvador Resino
BACKGROUND AND AIMS: CXCL9-11 polymorphisms are related to various infectious diseases, including hepatitis C virus (HCV) infection. In this study, we analyzed the association between CXCL9-11 polymorphisms and liver fibrosis in HCV-infected patients. METHODS: We performed a cross-sectional study in 389 patients who were genotyped for CXCL9-11 polymorphisms (CXCL9 rs10336, CXCL10 rs3921, and CXCL11 rs4619915) using the Sequenom's MassARRAY platform. The primary outcome variable was the liver stiffness measurement (LSM)...
December 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/28754883/the-prognostic-impacts-of-tea-domain-tead-transcription-factor-polymorphisms-in-chinese-hepatocellular-carcinoma-patients
#17
Haiyan Xia, Juan Wen, Weiyong Zhao, Dongying Gu, Zhibin Hu, Jinfei Chen, Zhi Xu
TEA domain (TEAD) transcription factors play an important role in hepatocellular carcinoma (HCC) development and progression by regulating the expression of a number of genes. However, the association of their genetic variations with HCC prognosis remains elusive. Seven potentially functional single nucleotide polymorphisms in TEAD1-4 (rs2304733, rs10831923, rs12104362, rs3745305, rs11756089, rs2076173, rs7135838) were genotyped from 331 hepatitis B virus positive HCC patients using the Sequenom MassARRAY iPLEX platform...
July 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28747736/association-of-ubash3a-gene-polymorphism-and-atopic-dermatitis-in-the-chinese-han-population
#18
Y Li, H Cheng, F-L Xiao, B Liang, F-S Zhou, P Li, X-D Zheng, L-D Sun, S Yang, X-J Zhang
Genome-wide association studies have revealed a large number of genetic-risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases share susceptibility loci. Recent evidence has demonstrated that UBASH3A gene was associated with multiple autoimmune diseases. The aim of this study was to explore the association between UBASH3A single-nucleotide polymorphisms (SNPs) and atopic dermatitis (AD) in a Chinese Han population...
July 27, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28747083/a-novel-variant-with-positive-natural-selection-influenced-hb-a2-levels-in-chinese-individuals-with-%C3%AE-thalassemia
#19
Shanjuan Yu, Yang Chen, Ketong Lai, Roma Kajal Dewan, Yunyan He
β-Thalassemia (β-thal) is the most common inherited hemolytic anemia worldwide. Elevated Hb A2 is a mark of β-thal carriers. The aim of this study was to identify the pathogenic variants associated with the Hb A2 levels. One thousand and thirty β-thal carriers were recruited for this study. Using positive natural expression quantitative trait loci (eQTL) analysis, a significant variant was selected. Genotyping for the rs231841 polymorphism was performed by the Sequenom MassARRAY IPLEX platform. All genetic association analyses were performed with the PLINK program...
July 26, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28742099/variants-of-acan-are-associated-with-severity-of-lumbar-disc-herniation-in-patients-with-chronic-low-back-pain
#20
Romain Shanil Perera, Poruwalage Harsha Dissanayake, Upul Senarath, Lalith Sirimevan Wijayaratne, Aranjan Lional Karunanayake, Vajira Harshadeva Weerabaddana Dissanayake
INTRODUCTION: Disc herniation is a complex spinal disorder associated with disability and high healthcare cost. Lumbar disc herniation is strongly associated with disc degeneration. Candidate genes of the aggrecan metabolic pathway may associate with the severity of lumbar disc herniation. OBJECTIVES: This study evaluated the association of single nucleotide variants (SNVs) of the candidate genes of the aggrecan metabolic pathway with the severity of lumbar disc herniation in patients with chronic mechanical low back pain...
2017: PloS One
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