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https://www.readbyqxmd.com/read/28226412/rage-polymorphisms-and-oxidative-stress-levels-in-hashimoto-s-thyroiditis
#1
Maria Giannakou, Katerina Saltiki, Emily Mantzou, Eleni Loukari, Georgios Philippou, Konstantinos Terzidis, Kiriaki Lili, Charalampos Stavrianos, Miltiades Kyprianou, Maria Alevizaki
BACKGROUND: Polymorphisms of the receptor for advanced glycation end products (RAGE) gene have been studied in various autoimmune disorders, but not in Hashimoto's thyroiditis. Also, increased oxidative stress has been described in patients with Hashimoto's thyroiditis. The aim of the present study was to investigate the possible role of two common RAGE polymorphisms (-429T>C, -374T>A) in Hashimoto's thyroiditis; in parallel we studied oxidative stress levels. MATERIALS AND METHODS: 300 consecutive euthyroid women were examined and classified into three groups: Hashimoto's thyroiditis with treatment (n=96), Hashimoto's thyroiditis without treatment (n=109) and controls (n=95)...
February 22, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28226269/the-causes-and-consequences-of-dna-methylome-variation-in-plants
#2
REVIEW
Danelle K Seymour, Claude Becker
Epigenetic variation - polymorphisms at the level of DNA methylation or histone modifications - modulates chromatin accessibility, which can perturb transcriptional activity and spur phenotypic variation. Determining the origin, frequency spectrum, and consequences of epigenetic variants is key to understanding the role of this variation in generating stable phenotypic variation in plants. Here we review recent literature on DNA methylation variation in both model and crop plant species with a focus on the link between genotype, epigenotype, and transcription...
February 19, 2017: Current Opinion in Plant Biology
https://www.readbyqxmd.com/read/28225905/comparison-of-four-molecular-approaches-to-identify-candida-parapsilosis-complex-species
#3
Leonardo Silva Barbedo, Maria Helena Galdino Figueiredo-Carvalho, Mauro de Medeiros Muniz, Rosely Maria Zancopé-Oliveira
Since the description of Candida orthopsilosis and C. metapsilosis in 2005, several methods have been proposed to identify and differentiate these species from C. parapsilosis sensu stricto. Species-specific uniplex polymerase chain reaction (PCR) was performed and compared with sequencing of the D1/D2 region of the LSU 28S rDNA gene, microsatellite typing of C. parapsilosis sensu stricto, and PCR-restriction fragment length polymorphism patterns in the ITS1-5.8S-ITS2 region of the rDNA gene. There was agreement between results of testing of 98 clinical isolates with the four PCR-based methods, with 59 isolates identified as C...
March 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28225899/comparison-of-four-molecular-approaches-to-identify-candida-parapsilosis-complex-species
#4
Leonardo Silva Barbedo, Maria Helena Galdino Figueiredo-Carvalho, Mauro de Medeiros Muniz, Rosely Maria Zancopé-Oliveira
Since the description of Candida orthopsilosis and C. metapsilosis in 2005, several methods have been proposed to identify and differentiate these species from C. parapsilosis sensu stricto. Species-specific uniplex polymerase chain reaction (PCR) was performed and compared with sequencing of the D1/D2 region of the LSU 28S rDNA gene, microsatellite typing of C. parapsilosis sensu stricto, and PCR-restriction fragment length polymorphism patterns in the ITS1-5.8S-ITS2 region of the rDNA gene. There was agreement between results of testing of 98 clinical isolates with the four PCR-based methods, with 59 isolates identified as C...
February 16, 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28225862/association-between-c1q-gene-polymorphisms-and-autoimmune-thyroid-diseases
#5
Qiuming Yao, Jie Li, Xiaofei An, Wenjuan Jiang, Qiu Qin, Ronghua Song, Ni Yan, Danfeng Li, Yanfei Jiang, Wen Wang, Liangfeng Shi, Jin-An Zhang
Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnically- and geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225860/il-6-tnf-%C3%AE-and-il-10-levels-polymorphisms-and-their-association-with-type-2-diabetes-mellitus-and-obesity-in-brazilian-individuals
#6
Kathryna Fontana Rodrigues, Nathalia Teixeira Pietrani, Adriana Aparecida Bosco, Fernanda Magalhães Freire Campos, Valéria Cristina Sandrim, Karina Braga Gomes
Objective: This study aimed to investigate the association of plasma TNF-α, IL-6, and lL-10 levels and cytokine gene polymorphisms [TNF-α (-308 G→A), IL-6 (-174 C→G) and IL-10 (-1082 A→G, -819 T→C and -592 A→C)] in type 2 diabetes mellitus (T2DM) and obese patients. Subjects and methods: One hundred and two T2DM patients and 62 controls were included in this study. Cytokine plasma levels were measured by the Cytometric Bead Array method. Genotyping was carried out by the polymerase chain reaction...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225792/the-adamts9-gene-is-associated-with-cognitive-aging-in-the-elderly-in-a-taiwanese-population
#7
Eugene Lin, Shih-Jen Tsai, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao, Cheng-Hung Yang
Evidence indicates that the pathophysiologic mechanisms associated with insulin resistance may contribute to cognitive aging and Alzheimer's diseases. In this study, we hypothesize that single nucleotide polymorphisms (SNPs) within insulin resistance-associated genes, such as the ADAM metallopeptidase with thrombospondin type 1 motif 9 (ADAMTS9), glucokinase regulator (GCKR), and peroxisome proliferator activated receptor gamma (PPARG) genes, may be linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population...
2017: PloS One
https://www.readbyqxmd.com/read/28225778/gnb3-and-creb1-gene-polymorphisms-combined-with-negative-life-events-increase-susceptibility-to-major-depression-in-a-chinese-han-population
#8
Jingsong Ma, Lin Wang, Yanjie Yang, Zhengxue Qiao, Deyu Fang, Xiaohui Qiu, Xiuxian Yang, Xiongzhao Zhu, Jincai He, Hui Pan, Bo Ban, Yan Zhao, Hong Sui
BACKGROUND: Major depression (MD) is caused by a combination of genetic and environmental factors. In this study we investigated the interaction of variations in the G-protein beta 3 subunit (GNB3) and cAMP response element binding protein 1 (CREB1) genes with negative life events in the pathogenesis of MD. One GNB3 polymorphism (rs5443) and four CREB1 polymorphisms (rs2253206, rs2551941, rs6740584, rs11904814) were investigated based on known associations with MD. METHODS: 512 patients with MD and 513 control subjects were genotyped...
2017: PloS One
https://www.readbyqxmd.com/read/28225775/genetic-polymorphisms-and-plasma-levels-of-bcl11a-contribute-to-the-development-of-laryngeal-squamous-cell-carcinoma
#9
Jian Zhou, Yue Yang, Duo Zhang, Liang Zhou, Lei Tao, Li-Ming Lu
OBJECTIVE: We investigated the association between B-cell lymphoma/leukaemia 11A (BCL11A) rs11886868 and rs4671393 polymorphism, plasma BCL11A concentration, and the hazard of developing laryngeal squamous cell carcinoma (LSCC). PARTICIPANTS AND METHOD: In this research, 330 LSCC patients, 310 healthy controls, and 155 vocal leukoplakia patients were genotyped for the BCL11A (rs11886868 C/T and rs4671393 A/G) genotypes by pyrosequencing; the BCL11A concentration was measured using ELISA...
2017: PloS One
https://www.readbyqxmd.com/read/28225571/balancing-selection-maintains-sex-determining-alleles-in-multiple-locus-complementary-sex-determination
#10
Jerome J Weis, Paul J Ode, George E Heimpel
Hymenopteran species in which sex is determined through a haplo-diploid mechanism known as complementary sex determination (CSD) are vulnerable to a unique form of inbreeding depression. Diploids heterozygous at one or more CSD loci develop into females but diploids homozygous at all loci develop into diploid males, which are generally sterile or inviable. Species with multiple polymorphic CSD loci (ml-CSD) may have lower rates of diploid male production than species with a single CSD locus (sl-CSD), but it is not clear if polymorphism is consistently maintained at all loci...
February 22, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28225484/association-between-erbb4-single-nucleotide-polymorphisms-and-susceptibility-to-schizophrenia-a-meta-analysis-of-case-control-studies
#11
Yanguo Feng, Dejun Cheng, Chaofeng Zhang, Yuchun Li, Zhiying Zhang, Juan Wang, Xiao Feng
BACKGROUND: Accumulating studies have reported inconsistent association between ErbB4 single nucleotide polymorphisms (SNPs) and predisposition to schizophrenia. To better interpret this issue, here we conducted a meta-analysis using published case-control studies. METHODS: We conducted a systematic search of MEDLINE (Pubmed), Embase (Ovid), Web of Science (Thomson-Reuters) to identify relevant references. The association between ErbB4 SNPs and schizophrenia was assessed by odds ratios (ORs) and 95% confidence intervals (CIs)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28225483/homocysteine-and-all-cause-mortality-in-hypertensive-adults-without-pre-existing-cardiovascular-conditions-effect-modification-by-mthfr-c677t-polymorphism
#12
Benjamin Xu, Xiangyi Kong, Richard Xu, Yun Song, Lishun Liu, Ziyi Zhou, Rui Gu, Xiuli Shi, Min Zhao, Xiao Huang, Mingli He, Jia Fu, Yefeng Cai, Ping Li, Xiaoshu Cheng, Changyan Wu, Fang Chen, Yan Zhang, Genfu Tang, Xianhui Qin, Binyan Wang, Hao Xue, Yundai Chen, Ye Tian, Ningling Sun, Yimin Cui, Fan Fan Hou, Jianping Li, Yong Huo
BACKGROUND: Previous studies support an association between elevated total homocysteine (tHcy) levels and increased all-cause mortality. However, few prospective studies have examined this association in hypertensive patients, and/or tested any effect modification by the methylene tetrahydrofolate reductase (MTHFR) C677T genotype. METHODS: This was a post hoc analysis of the China Stroke Primary Prevention Trial. Serum tHcy and folate were measured at baseline. Individual MTHFR C677T genotype (CC, CT, and TT) was determined...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28225367/progranulin-gene-variation-affects-serum-progranulin-levels-differently-in-danish-bipolar-individuals-compared-with-healthy-controls
#13
Henriette N Buttenschøn, Marit N Nielsen, Gangadaar Thotakura, Chris W Lee, Anders Nykjær, Ole Mors, Simon Glerup
OBJECTIVES: The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls...
February 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28225258/nanoparticle-based-discrimination-of-single-nucleotide-polymorphism-in-long-dna-sequences
#14
Maria Sanroman-Iglesias, Charles Lawrie, Luis M Liz-Marzán, Marek Grzelczak
Circulating DNA (ctDNA) and specifically the detection cancer-associated mutations in liquid biopsies promises to revolutionize cancer detection. The main difficulty however is that the length of typical ctDNA fragments (~150 bases) can form secondary structures potentially obscuring the mutated fragment from detection. We show that an assay based on gold nanoparticles (65 nm) stabilized with DNA (Au@DNA) can discriminate single nucleotide polymorphism in clinically-relevant DNA sequences (70-140 bases). The preincubation step was crucial to this process, allowing sequential bridging of Au@DNA, so that single base mutation can be discriminated, down to 100 pM concentration...
February 22, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28225209/association-of-the-il-10-receptor-a536g-s138g-loss-of-function-variant-with-multiple-sclerosis-in-tunisian-patients
#15
Nadia Ben Fredj, Mouna Aissi, Walid Ben Selma, Imen Mahmoud, Faten Nefzi, Mahbouba Frih-Ayed, Jalel Boukadida, Mahjoub Aouni
Interleukin-10 (IL-10), a potent anti-inflammatory T-cell cytokine, has been shown to be a regulatory cytokine that is associated with disease remission in multiple sclerosis (MS) and exerts its activity through its cognate cell surface receptor complex, IL-10 receptor 1 (IL-10R1) and IL-10R2. The purpose of this study was to investigate the IL-10R1 S138G loss-of-function polymorphism (A536G: rs3135932) for possible influence on susceptibility and outcome of MS in Tunisian patients. A total of 103 Tunisian MS patients and 160 control subjects were studied...
February 22, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28225073/high-mutation-rates-explain-low-population-genetic-divergence-at-copy-number-variable-loci-in-homo-sapiens
#16
Xin-Sheng Hu, Francis C Yeh, Yang Hu, Li-Ting Deng, Richard A Ennos, Xiaoyang Chen
Copy-number-variable (CNV) loci differ from single nucleotide polymorphic (SNP) sites in size, mutation rate, and mechanisms of maintenance in natural populations. It is therefore hypothesized that population genetic divergence at CNV loci will differ from that found at SNP sites. Here, we test this hypothesis by analysing 856 CNV loci from the genomes of 1184 healthy individuals from 11 HapMap populations with a wide range of ancestry. The results show that population genetic divergence at the CNV loci is generally more than three times lower than at genome-wide SNP sites...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28225001/phosphodiesterase-4d-polymorphisms-associate-with-the-short-term-outcome-in-ischemic-stroke
#17
Yan-Li Song, Chun-Juan Wang, Yi-Ping Wu, Jie Lin, Peng-Lian Wang, Wan-Liang Du, Li Liu, Jin-Xi Lin, Yi-Long Wang, Yong-Jun Wang, Gai-Fen Liu
It has been demonstrated that phosphodiesterase 4D (PDE4D) genetic polymorphism is associated with ischemic stroke. However, the association between PDE4D gene and prognosis after ischemic stroke remains unknown. We consecutively enrolled ischemic stroke patients admitted to Beijing Tiantan Hospital from October 2009 to December 2013. Clinical, laboratory and imaging data upon admission were collected. All patients were followed up 3 months after stroke onset. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the associations of genetic polymorphisms with 3-month outcome after ischemic stroke and different subtypes, under various genetic models...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224759/genomic-variants-at-20p11-associated-with-body-fat-mass-in-the-european-population
#18
Yu-Fang Pei, Hai-Gang Ren, Lu Liu, Xiao Li, Chen Fang, Yun Huang, Wen-Zhu Hu, Wei-Wen Kong, An-Ping Feng, Xin-Yi You, Wen Zhao, Hui Shen, Qing Tian, Yong-Hong Zhang, Hong-Wen Deng, Lei Zhang
OBJECTIVE: Body fat mass (BFM) is more homogeneous and accurate than body total mass in measuring obesity but has rarely been studied. Aiming to uncover the genetic basis of fat-induced obesity, a genome-wide association meta-analysis of BFM, after adjustment by body lean mass, was performed in the European population. METHODS: Three samples of European ancestry were included in the meta-analysis: the Framingham Heart Study (N = 6,004), the Kansas City osteoporosis study (N = 2,207), and the Omaha osteoporosis study (N = 968)...
February 22, 2017: Obesity
https://www.readbyqxmd.com/read/28224698/determinants-of-the-magnitude-of-interaction-between-tacrolimus-and-voriconazole-posaconazole-in-solid-organ-recipients
#19
Thomas Vanhove, Hanneke Bouwsma, Luuk Hilbrands, Jesse J Swen, Isabel Spriet, Pieter Annaert, Bart Vanaudenaerde, Geert Verleden, Robin Vos, Dirk R J Kuypers
Administration of azole antifungals to tacrolimus-treated solid organ recipients results in a major drug-drug interaction characterized by increased exposure to tacrolimus. The magnitude of this interaction is highly variable but cannot currently be predicted. We performed a retrospective analysis of 126 solid organ recipients (95 lung, 31 kidney) co-treated with tacrolimus and voriconazole (n=100) or posaconazole (n=26). Predictors of the change in tacrolimus dose-corrected trough concentrations (C/D) between baseline and tacrolimus - azole co-therapy were assessed using linear mixed modeling...
February 21, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28224649/sex-chromosomal-abnormalities-associated-with-equine-infertility-validation-of-a-simple-molecular-screening-tool-in-the-purebred-spanish-horse
#20
G Anaya, A Molina, M Valera, M Moreno-Millán, P Azor, P Peral-García, S Demyda-Peyrás
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool...
February 22, 2017: Animal Genetics
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