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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/28926292/vegf-polymorphisms-among-neovascular-age-related-macular-degenerative-subjects-in-a-multiethnic-population
#1
Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman
AIM: To determine the association of vascular endothelial growth factor (VEGF) polymorphisms with neovascular age-related macular degeneration (nAMD). MATERIALS AND METHODS: One hundred thirty-five nAMD patients and 135 controls were recruited to determine the association of the -460 C/T, the -2549 I/D, and the +405 G/C polymorphisms with the VEGF gene. Genotyping was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, and association analyses were conducted using chi-square analysis and logistic regression analysis...
September 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28910191/lysophosphatidic-acid-is-a-biomarker-for-peritoneal-carcinomatosis-of-gastric-cancer-and-correlates-with-poor-prognosis
#2
Ruolan Zeng, Bin Li, Junhui Huang, Meizuo Zhong, Li Li, Chaojun Duan, Shan Zeng, Jin Huang, Wei Liu, Jingchen Lu, Youhong Tang, Lingming Zhou, Yiping Liu, Jianhuang Li, Zhengxi He, Quan Wang, Youyi Dai
BACKGROUND: Peritoneal carcinomatosis (PC) is an important cause of morbidity and mortality among patients with gastric cancer. Thus, it is important to identify an ideal biomarker for PC. METHODS: Plasma and ascites samples were collected from gastric cancer patients with PC and a control group. Lysophosphatidic acid (LPA) levels were tested and analyzed. RESULTS: The plasma LPA levels of gastric cancer patients with PC were significantly higher than those in gastric cancer patients after radical resection (p = 0...
September 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28910158/interaction-between-rare-variants-in-notch1-and-betel-quid-chewing-in-oral-squamous-cell-carcinoma
#3
Chia-Min Chung, Chien-Hung Lee, Mu-Kuan Chen, Ming-Hsui Tsai, Ying-Chin Ko
BACKGROUND: In this study, we investigated rare variants of the NOTCH1 gene located near somatic mutations as surrogate markers, as well as the relationship of these rare variants with betel quid (BQ) chewing and the occurrence of oral squamous cell carcinoma (OSCC). MATERIALS AND METHODS: A total of 410 patients diagnosed with OSCC and 282 unrelated, healthy subjects without cancer were recruited from two medical centers in Taiwan. Odds ratios (OR) and 95% confidence intervals (CI) were assessed by logistic regression...
September 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28885040/validation-of-next-generation-sequencer-for-24-chromosome-aneuploidy-screening-in-human-embryos
#4
Kabir Sachdeva, Richard Discutido, Firas Albuz, Rawan Almekosh, Braulio Peramo
BACKGROUND: Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM: The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS: Embryo biopsy, whole-genome amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed. RESULTS: A total of 204 whole-genome-amplified products were tested with an NGS-based protocol, from which 100 samples were used for standardization and to evaluate the quality of the results produced by this new technique...
September 8, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28876137/penetrance-and-the-healthy-elderly
#5
Paul Lacaze, Ingrid Winship, John McNeil
The variable penetrance of pathogenic variants (PVs) represents a major challenge to the field of human genetics, often complicating clinical decision-making and risk management. Nonpenetrance, the detection of PVs in the absence of disease manifestation, is a common phenomenon, yet, we know very little about the underlying factors, which may protect some individuals and not others. Placing a new focus on the genomic study of the healthy elderly may be pivotal for advancing our understanding of penetrance. Studying those who remain unaffected late into life, despite harboring known genetic risk variants, could provide important insights into disease mechanisms and ultimately inform clinical care, yet, it has received relatively little attention as a research strategy...
September 6, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28872921/circulating-long-noncoding-rnas-as-potential-biomarkers-of-sepsis-a-preliminary-study
#6
Yu Dai, Zhixin Liang, Yulin Li, Chunsun Li, Liangan Chen
OBJECTIVE: Long noncoding RNAs (lncRNAs) are becoming promising biomarker candidates in various diseases as assessed via sequencing technologies. Sepsis is a life-threatening disease without ideal biomarkers. The aim of this study was to investigate the expression profile of lncRNAs in the peripheral blood of sepsis patients and to find potential biomarkers of sepsis. METHODS: A lncRNA expression profile was performed using peripheral blood from three sepsis patients and three healthy volunteers using microarray screening...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28872899/two-novel-variants-affecting-cdkl5-transcript-associated-with-epileptic-encephalopathy
#7
Jana Neupauerová, Katalin Štěrbová, Markéta Vlčková, Věra Sebroňová, Tat'ána Maříková, Marcela Krůtová, David Staněk, Pavel Kršek, Markéta Žaliová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28872890/synergistic-association-of-genetic-variants-with-environmental-risk-factors-in-susceptibility-to-essential-hypertension
#8
Ana Célia Sousa, Maria I Mendonça, Andreia Pereira, Sara Gouveia, Ana I Freitas, Graça Guerra, Mariana Rodrigues, Eva Henriques, Sónia Freitas, Sofia Borges, Décio Pereira, António Brehm, Roberto Palma Dos Reis
AIMS: Essential hypertension (EH) is a disease in which both environment and genes have an important role. This study was designed to identify the interaction model between genetic variants and environmental risk factors that most highly potentiates EH development. METHODS: We performed a case-control study with 1641 participants (mean age 50.6 ± 8.1 years), specifically 848 patients with EH and 793 controls, adjusted for gender and age. Traditional risk factors, biochemical and genetic parameters, including the genotypic discrimination of 14 genetic variants previously associated with EH, were investigated...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28832189/the-association-between-xpg-gene-polymorphism-and-gastric-cancer-risk
#9
Yanyan Su, Chong Yang, Zongxiang Zhang
PURPOSE: Studies exploring the association between the Xeroderma pigmentosum group G (XPG) gene polymorphisms and gastric cancer (GC) risk provide conflicting findings. Thus, this meta-analysis was performed. MATERIALS AND METHODS: The PubMed and EMBASE databases were comprehensively searched to identify studies for the inclusion in the meta-analysis. The strength of the association was evaluated by calculating pooled odds ratios and 95% confidence intervals. RESULTS: Nine case-control studies involving 3540 cases and 3953 controls were included in the meta-analysis, which revealed that the XPG rs751402 polymorphism is positively associated with GC risk and could be viewed as a risk factor of GC in three genetic models...
August 23, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28829625/whole-exome-sequencing-identified-a-novel-igfbp6-variant-in-a-disc-degeneration-pedigree
#10
Sun Fu, Wang Lei, Dai Lanlan, Yuan Qi-Ling, Liu Liang, Zhou Hanlin, Zhang Jianguo, Zhang Yin-Gang
OBJECTIVE: To identify a potent gene that can induce disc degeneration in the pedigree with high incidence of disc degeneration. MATERIALS AND METHODS: A large pedigree with a high incidence of disc degeneration was recruited for this study. Exome sequencing was completed on four family members with disc degeneration to screen for causal gene variants. Detected variants were filtered against the 1000 Genomes Project, Short Genetic Variations database (dbSNP), and Beijing Genomics Institute (BGI) in-house database...
August 22, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28805452/birt-hogg-dube-syndrome-with-a-novel-mutation-in-the-flcn-gene
#11
Gulsum Kayhan, Nilgun Yılmaz Demirci, Haluk Turktas, Mehmet Ali Ergun
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. Colorectal polyps and carcinoma have also been reported in BHDS. FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS. The aim of this report is to enhance awareness that patients presenting with spontaneous PSP should be evaluated for FLCN mutations...
August 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28777012/association-of-common-variants-in-tgfa-with-increased-risk-of-knee-osteoarthritis-susceptibility
#12
Guofeng Cui, Rong Wei, Dan Liu, Haojie Yang, Junlong Wu, Lihong Fan, Kunzheng Wang
OBJECTIVE: Osteoarthritis (OA) is a complex degenerative joint disorder, which has contributions from both environmental and genetic factors. Several recent publications have established the connection between hip OA susceptibility and genetic markers within the TGFA gene, however, the relationship of these markers with knee OA has not been elucidated. Therefore, the present study was designed to investigate the potential linkage between common variants of the TGFA gene with knee OA in a large sample of Han Chinese individuals...
August 4, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28768142/contributions-of-ikzf1-ddc-cdkn2a-cebpe-and-lmo1-gene-polymorphisms-to-acute-lymphoblastic-leukemia-in-a-yemeni-population
#13
Boshra Al-Absi, Muhammad F M Razif, Suzita M Noor, Riyadh Saif-Ali, Mohammed Aqlan, Sameer D Salem, Radwan H Ahmed, Sekaran Muniandy
BACKGROUND: Genome-wide and candidate gene association studies have previously revealed links between acute lymphoblastic leukemia (ALL) predisposition and genetic polymorphisms in these genes: IKZF1 (7p12.2; ID: 10320), DDC (7p12.2; ID: 1644), CDKN2A (9p21.3; ID: 1029), CEBPE (14q11.2; ID: 1053), and LMO1 (11p15; ID: 4004). In this study, we aimed to conduct an investigation into the possible association between polymorphisms in these genes and ALL within a sample of Yemeni children of Arab-Asian descent...
August 2, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28915083/research-for-the-people-by-the-people
#14
Sharon F Terry
No abstract text is available yet for this article.
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28915082/a-combined-study-of-slc6a15-gene-polymorphism-and-the-resting-state-functional-magnetic-resonance-imaging-in-first-episode-drug-naive-major-depressive-disorder
#15
Lijuan Wang, Zhifen Liu, Xiaohua Cao, Jianying Li, Aixia Zhang, Ning Sun, Chunxia Yang, Kerang Zhang
AIMS: The SLC6A15 gene has been identified as a novel candidate gene for major depressive disorder (MDD). However, the mechanism underlying the effects of how the SLC6A15 gene affects functional brain activity of patients with MDD remains unknown. METHODS: In the present study, we investigated the effect of the SLC6A15 gene polymorphism, rs1545843, on resting-state brain function in MDD with the imaging genomic technology and the regional homogeneity (ReHo) method...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28872889/association-between-the-lower-extremity-deep-venous-thrombosis-the-warfarin-maintenance-dose-and-cyp2c9-3-cyp2d6-10-and-cyp3a5-3-genetic-polymorphisms-a-case-control-study
#16
Shang Ju, Yu Gao, Xin Cao, Xiao-Fu Zhang, Cheng-Cheng Yan, Feng-Tong Liu
OBJECTIVE: This study explored the association between the CYP2C9*3/CYP2D6*10/CYP3A5*3 genetic polymorphisms with lower extremity deep venous thrombosis (LEDVT) and the warfarin maintenance dose. METHODS: Five hundred thirty-six patients who were pathologically diagnosed with LEDVT after surgery were included in the LEDVT group. At the same time, 540 patients without LEDVT who underwent surgery were recruited as the control group. Patients were given warfarin at an initial dose of 2...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28846454/glis3-and-tyk2-single-nucleotide-polymorphisms-are-not-associated-with-dermatomyositis-polymyositis-in-chinese-han-population
#17
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/28829191/the-cd14-rs2569190-tt-genotype-is-associated-with-chronic-periodontitis
#18
Dilshi Ishaan, Harinath Parthasarathy, Deepa Ponnaiyan, Anupama Tadepalli
AIM: The genetic variation in the CD14 rs2569190 promoter region contributes to the susceptibility of developing periodontitis. Since, CD14 gene polymorphism studies among various ethnic populations have produced conflicting results, the present study was designed to unearth the association between the CD14 rs2569190 gene polymorphism and generalized chronic periodontitis (GCP) in a South Indian population of Tamil ethnicity. METHODS: Polymorphisms in the CD14 rs2569190 promoter region were analyzed in 96 subjects who were periodontally healthy and 96 patients with GCP...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28799806/elevated-serum-level-of-ca125-is-a-biomarker-that-can-be-used-to-alter-prognosis-determined-by-brca-mutation-and-family-history-in-ovarian-cancer
#19
Weiling Liu, Zhizhong Wang, Jie Ma, Yangyang Hou, Jiuzhou Zhao, Bing Dong, Shichun Tu, Li Wang, Yongjun Guo
AIMS: In this study, we determined whether serum tumor markers (STMs), including CA125, are associated with BRCA mutation status and if they can be used prognostically in sporadic ovarian cancer (SOC) and familial ovarian cancer (FOC). METHODS: BRCA gene mutations were screened using next-generation sequencing (NGS) in 31 FOC and 66 SOC patients enrolled between 2013 and 2014. The serum levels of STM CEA, CA125, CA199, and HE4 were also measured in these patients to determine the prognostic potential of these markers and their association with BRCA mutations...
September 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28783370/association-between-polymorphisms-of-the-mannose-binding-lectin-and-severity-of-periportal-fibrosis-in-schistosomiasis-in-the-northeast-of-brazil
#20
Taynan da Silva Constantino, Elker Lene Santos de Lima, Lidiane Régia Pereira Braga de Brito, Jamile Luciana Silva, Maria Rosângela Cunha Duarte Coêlho, Maria Tereza Cartaxo Muniz, Paula Carolina Valença Silva, Ana Lúcia Coutinho Domingues
AIMS: Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of periportal fibrosis (PPF), and that these polymorphisms affect the MBL serum levels. MATERIALS AND METHODS: In this cross-sectional study we genotyped these polymorphisms within the MBL2 gene in 229 Brazilian subjects infected with Schistosoma mansoni, with different patterns of PPF...
September 2017: Genetic Testing and Molecular Biomarkers
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