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https://www.readbyqxmd.com/read/28445984/paraoxonase-1-gene-polymorphisms-are-associated-with-an-increased-risk-of-breast-cancer-in-a-population-of-chinese-women
#1
Junrong Wu, Min Fang, Xiaoping Zhou, Bo Zhu, Zhi Yang
In this study, we explored associations between paraoxonase 1 (PON1) L55M and Q192R gene polymorphisms and the risk of breast cancer in 365 female breast cancer patients and 378 healthy controls from the Guangxi region of southern China. The LM heterozygous and MM homozygous genotypes, as well as M carrier status and M alleles, were associated with an increased risk of breast cancer. In addition, the M allele was associated with postmenopausal status and increased nodal involvement. In contrast, none of the Q192R genotypes or alleles were associated with a change in breast cancer risk, or with any of the clinicopathological parameters...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445979/the-impacts-of-single-nucleotide-polymorphisms-in-genes-of-cell-cycle-and-nf-kb-pathways-on-the-efficacy-and-acute-toxicities-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#2
Chengxian Guo, Yuling Huang, Jingjing Yu, Lijuan Liu, Xiaochang Gong, Min Huang, Chunling Jiang, Yulu Liao, Lihua Huang, Guoping Yang, Jingao Li
Radiotherapy is one of the primary choices for the treatment of nasopharyngeal carcinoma (NPC) and may result in severe radiotoxicities on normal tissues. Single nucleotide polymorphisms (SNPs) in genes of cell cycle and NF-κB pathways have been linked with the prognoses of various cancers. The aim of this study was to explore whether SNPs of genes involved in cell cycle and NF-κB pathways are associated with responses to radiotherapy in NPC patients. We selected 3 SNPs in cell cycle pathway and 5 SNPs in NF-κB pathway and genotyped them in 154 NPC patients treated with radiotherapy...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445865/associations-between-lmo1-gene-polymorphisms-and-wilms-tumor-susceptibility
#3
Guo-Chang Liu, Zhen-Jian Zhuo, Shi-Bo Zhu, Jinhong Zhu, Wei Jia, Zhang Zhao, Jin-Hua Hu, Jing He, Feng-Hua Wang, Wen Fu
Wilms' tumor is the most common childhood renal malignancy. A genome-wide association study identified LIM domain only 1 (LMO1) as having oncogenic potential. We examined the associations between LMO1 gene polymorphisms and susceptibility to Wilms' tumor. In this hospital-based, case-control study, we recruited 145 children with Wilms' tumor and 531 cancer-free children. Four polymorphisms (rs110419 A>G, rs4758051 G>A, rs10840002 A>G and rs204938 A>G) were genotyped using Taqman methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the associations between selected polymorphisms and Wilms' tumor susceptibility...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445836/a-forensic-multiplex-of-nine-novel-pentameric-repeat-strs
#4
M de la Puente, C Phillips, M Fondevila, M Gelabert-Besada, Á Carracedo, M V Lareu
Pentameric-repeat short tandem repeats (STRs), consisting of loci with repeat units of five base-pairs, have the advantage of reduced stutter products compared to their tetrameric-repeat STR counterparts. This characteristic potentially helps the interpretation of mixed DNA profiles when minor component alleles may coincide with stutter peaks from the major components. To develop a simple but informative forensic multiplex with the capability to aid mixture interpretation, we designed an 11-plex assay of nine pentameric STRs new to forensic analysis plus two male- specific markers: DYS391 and the Y-Indel rs2032678 used in GlobalFiler™ (Life Technologies)...
April 15, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28445685/outcomes-following-detection-of-low-level-plasma-hiv-rna-in-hiv-infected-patients-previously-virologically-suppressed-on-antiretroviral-therapy-a-retrospective-observational-study
#5
Annabelle M Warren, Allen C Cheng, Kerrie Watson, Sharon R Lewin, Jennifer F Hoy
Background: Progressively sensitive assays for plasma HIV RNA have led to increased detection of plasma HIV RNA between 20 and 200 copies/ml, known as low level viremia (LLV) when recurrent or persistent, in HIV-infected patients on antiretroviral therapy (ART). The aim of this study was to determine outcomes following initial detection of LLV in an Australian cohort. Methods: A retrospective study using the HIV Service Database (Alfred Hospital) included all patients on ART who recorded plasma HIV RNA 20-200 copies/mL following prior virological suppression (viral load (VL) HIV RNA <20 copies/mL) over 2 years (2010 to 2012), with follow-up to June 2013...
April 27, 2017: Sexual Health
https://www.readbyqxmd.com/read/28445651/herbicide-targets-and-detoxification-proteins-in-sugarcane-from-gene-assembly-to-structure-modelling
#6
Dyfed Lloyd Evans, Shailesh Vinay Joshi
In a genome context, sugarcane is a classic orphan crop, in that no genome and only very few genes have been assembled. We have devised a novel exome assembly methodology that has allowed us to assemble and characterize 49 genes that serve as herbicide targets, safener interacting proteins and members of herbicide detoxification pathways within the sugarcane genome. We have structurally modelled the products of each of these genes, as well as determining allelic, genomic and RNA-Seq based polymorphisms for each gene...
April 26, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28445614/two-common-human-cldn5-alleles-encode-different-open-reading-frames-but-produce-one-protein-isoform
#7
Ronald M Cornely, Barbara Schlingmann, Whitney S Shepherd, Joshua D Chandler, David C Neujahr, Michael Koval
Claudins provide tight junction barrier selectivity. The human CLDN5 gene contains a high-frequency single-nucleotide polymorphism (rs885985), where the G allele codes for glutamine (Q) and the A allele codes for an amber stop codon. Thus, these different CLDN5 alleles define nested open reading frames (ORFs) encoding claudin-5 proteins that are 303 or 218 amino acids in length. Interestingly, human claudin-16 and claudin-23 also have long ORFs. The long form of claudin-5 contrasts with the majority of claudin-5 proteins in the National Center for Biotechnology Information protein database, which are less than 220 amino acids in length...
April 26, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28445522/revealing-phenotype-associated-functional-differences-by-genome-wide-scan-of-ancient-haplotype-blocks
#8
Ritsuko Onuki, Rui Yamaguchi, Tetsuo Shibuya, Minoru Kanehisa, Susumu Goto
Genome-wide scans for positive selection have become important for genomic medicine, and many studies aim to find genomic regions affected by positive selection that are associated with risk allele variations among populations. Most such studies are designed to detect recent positive selection. However, we hypothesize that ancient positive selection is also important for adaptation to pathogens, and has affected current immune-mediated common diseases. Based on this hypothesis, we developed a novel linkage disequilibrium-based pipeline, which aims to detect regions associated with ancient positive selection across populations from single nucleotide polymorphism (SNP) data...
2017: PloS One
https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#9
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28445499/fine-scale-population-genetic-structure-of-the-bengal-tiger-panthera-tigris-tigris-in-a-human-dominated-western-terai-arc-landscape-india
#10
Sujeet Kumar Singh, Jouni Aspi, Laura Kvist, Reeta Sharma, Puneet Pandey, Sudhanshu Mishra, Randeep Singh, Manoj Agrawal, Surendra Prakash Goyal
Despite massive global conservation strategies, tiger populations continued to decline until recently, mainly due to habitat loss, human-animal conflicts, and poaching. These factors are known to affect the genetic characteristics of tiger populations and decrease local effective population sizes. The Terai Arc Landscape (TAL) at the foothills of the Himalaya is one of the 42 source sites of tigers around the globe. Therefore, information on how landscape features and anthropogenic factors affect the fine-scale spatial genetic structure and variation of tigers in TAL is needed to develop proper management strategies for achieving long-term conservation goals...
2017: PloS One
https://www.readbyqxmd.com/read/28445304/toll-like-receptors-2-and-9-tlr2-and-tlr9-gene-polymorphism-in-patients-with-type-2-diabetes-and-diabetic-foot
#11
Mohamed-Naguib Abdalla Wifi, Maha Assem, Rasha Hamed Elsherif, Hameda Abdel-Fattah El-Azab, Aasem Saif
Toll-like receptors (TLRs) are innate immune receptors that mediate the inflammatory response in diabetes mellitus (DM). The aim of this study is to evaluate the association of TLR2 and TLR9 gene polymorphism in patients with type 2 DM (T2DM) and diabetic foot (DF).The study included 90 subjects divided into group I (30 patients with T2DM and DF), group II (30 patients with T2DM and no evidence of DF), and group III (normal control subjects). TLR2 (1350 T/C, rs3804100) and TLR9 (1237 T/C, rs5743836) genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique for all subjects...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445285/association-between-vitamin-d-receptor-bsmi-polymorphism-and-bone-mineral-density-in-pediatric-patients-a-meta-analysis-and-systematic-review-of-observational-studies
#12
Li Bao, Mingzhi Chen, Yong Lei, Zemin Zhou, Huiping Shen, Feng Le
BACKGROUND: Vitamin D and the vitamin D receptor (VDR) are important in the metabolic processes that affect bone mineral density (BMD). However, the effect of VDR BsmI polymorphism on BMD in pediatric patients is still unclear. METHODS: Eligible studies were identified from the following electronic databases: PubMed, Embase, the Cochrane Library, and the Chinese CNKI and Wanfang databases before October 1, 2016. Data were extracted from the eligible studies, and associations between VDR BsmI polymorphism and BMD in pediatric patients were estimated with weighted mean differences (WMDs) and 95% confidence intervals (CIs)...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445189/proton-pump-inhibitor-responsive-esophageal-eosinophilia-still-a-valid-diagnosis
#13
Javier Molina-Infante, Pedro L Gonzalez-Cordero, Alfredo J Lucendo
PURPOSE OF REVIEW: To update rapidly evolving concepts regarding the controversial entity of 'proton pump inhibitor (PPI)-responsive esophageal eosinophilia,' referring to patients with clinical, endoscopic and histologic features of eosinophilic esophagitis (EoE) who achieve remission on PPI therapy. RECENT FINDINGS: Up to half of pediatric and adult patients with typical EoE symptoms and histology achieve clinico-pathologic remission on PPI therapy, irrespective of whether esophageal pH monitoring demonstrates abnormal acid reflux...
April 25, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28445188/tpmt-comt-and-acyp2-genetic-variants-in-paediatric-cancer-patients-with-cisplatin-induced-ototoxicity
#14
Signe Thiesen, Peng Yin, Andrea L Jorgensen, Jieying E Zhang, Valentina Manzo, Laurence McEvoy, Christopher Barton, Susan Picton, Simon Bailey, Penelope Brock, Harish Vyas, David Walker, Guy Makin, Srinivas Bandi, Barry Pizer, Daniel B Hawcutt, Munir Pirmohamed
OBJECTIVES: Cisplatin ototoxicity affects 42-88% of treated children. Catechol-O-methyltransferase (COMT), thiopurine methyltransferase (TPMT) and AYCP2 genetic variants have been associated with ototoxicity, but the findings have been contradictory. The aims of the study were as follows: (a) to investigate these associations in a carefully phenotyped cohort of UK children and (b) to perform a systematic review and meta-analysis. METHODS: We recruited 149 children from seven UK centres using a retrospective cohort study design...
April 25, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28445187/the-effects-of-inherited-nudt15-polymorphisms-on-thiopurine-active-metabolites-in-japanese-children-with-acute-lymphoblastic-leukemia
#15
Takaya Moriyama, Rina Nishii, Ting-Nien Lin, Kentaro Kihira, Hidemi Toyoda, Nersting Jacob, Motohiro Kato, Katsuyoshi Koh, Hiroto Inaba, Atsushi Manabe, Kjeld Schmiegelow, Jun J Yang, Hiroki Hori
Thiopurines [e.g. mercaptopurine (MP)] are widely used as chemotherapeutic agents in the treatment of pediatric acute lymphoblastic leukemia with dose-limiting hematopoietic toxicity. Recently, germline variants in NUDT15 have been identified as a major genetic cause for MP-related bone marrow suppression, and there is increasing interest in the clinical implementation of NUDT15 genotype-guided MP dose individualization. Therefore, we sought to evaluate the effects of NUDT15 on thiopurine metabolism and identify pharmacologic markers to inform NUDT15 genotype-guided MP dosing...
April 25, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28445160/association-between-mmp2-1306-c-t-polymorphism-and-prostate-cancer-susceptibility-a-meta-analysis-based-on-3906-subjects
#16
Kaiping Zhang, Xianguo Chen, Jun Zhou, Cheng Yang, Meng Zhang, Min Chao, Li Zhang, Chaozhao Liang
Numerous investigations have addressed the correlation between MMP2-1306C/T polymorphism and prostate cancer (PCa) susceptibility. However, these conclusions were controversial. Thus, we conducted this current meta-analysis based on six studies from PubMed, Embase, Cochrane Library, China Biology Medicine disc (CBM), China National Knowledge Infrastructure (CNKI) up to October 21st, 2016. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to evaluate the strength of the correlations. Additionally, different subgroup analyses and publication bias tests were performed...
April 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445147/identification-of-rs7350481-at-chromosome-11q23-3-as-a-novel-susceptibility-locus-for-metabolic-syndrome-in-japanese-individuals-by-an-exome-wide-association-study
#17
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We have performed exome-wide association studies to identify genetic variants that influence body mass index or confer susceptibility to obesity or metabolic syndrome in Japanese. The exome-wide association study for body mass index included 12,890 subjects, and those for obesity and metabolic syndrome included 12,968 subjects (3954 individuals with obesity, 9014 controls) and 6817 subjects (3998 individuals with MetS, 2819 controls), respectively. Exome-wide association studies were performed with Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays...
April 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445130/single-nucleotide-polymorphisms-in-mlh1-predict-poor-prognosis-of-hepatocellular-carcinoma-in-a-chinese-population
#18
Xiaonian Zhu, Wei Liu, Xiaoqiang Qiu, Zhigang Wang, Chao Tan, Chunhua Bei, Linyuan Qin, Yuan Ren, Shengkui Tan
Hepatocellular carcinoma (HCC) is a malignant cancer causing deleterious health effect worldwide, especially in China. So far clinical cure rate and long-term survival rate of HCC remains low. Most HCC patients after cancer resection have recurrence or metastasis within 5 years. This study aims to explore the genetic association of mutL homolog 1 (MLH1) polymorphisms with HCC risk and prognosis. Four candidate MLH1 polymorphisms, rs1800734, rs10849, rs3774343 and rs1540354 were studied from a hospital-based case-control study including 1,036 cases (HCC patients) and 1,036 controls (non-HCC patients) in Guangxi, China...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445010/detection-of-serum-antibodies-to-hepatitis-e-virus-based-on-hev-genotype-3-orf2-capsid-protein-expressed-in-nicotiana-benthamiana
#19
Milena Mazalovska, Nikola Varadinov, Tsvetoslav Koynarski, Ivan Minkov, Pavel Teoharov, George P Lomonossoff, Gergana Zahmanova
BACKGROUND: Hepatitis E virus (HEV) causes epidemics in developing countries and is primarily transmitted through the fecal-oral route. There have been recent reports on the zoonotic spread of the virus, and several animal species, primarily pigs, have been recognized as reservoirs of HEV. Because of its possible spread, there is an urgent need of a method for the cost-effective production of HEV proteins that can be used as diagnostic antigens for the serological detection of anti-HEV antibodies...
July 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28445008/prevalence-of-complement-mediated-cell-lysis-like-gene-sicg-in-streptococcus-dysgalactiae-subsp-equisimilis-isolates-from-japan-2014-2016
#20
Takashi Takahashi, Tomohiro Fujita, Akiyoshi Shibayama, Yuzo Tsuyuki, Haruno Yoshida
BACKGROUND: Streptococcus dysgalactiae subsp. equisimilis (SDSE; a β-hemolytic streptococcus of human or animal origin) infections are emerging worldwide. We evaluated the clonal distribution of complement-mediated cell lysis-like gene (sicG) among SDSE isolates from three central prefectures of Japan. METHODS: Group G/C β-hemolytic streptococci were collected from three institutions from April 2014 to March 2016. Fifty-five strains (52 from humans and three from animals) were identified as SDSE on the basis of 16S rRNA sequencing data...
July 2017: Annals of Laboratory Medicine
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