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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/29779728/association-between-aldehyde-dehydrogenase-2-glu504lys-polymorphism-and-alcoholic-liver-disease
#1
Binxia Chang, Shuli Hao, Longyu Zhang, Miaomiao Gao, Ying Sun, Ang Huang, Guangju Teng, Baosen Li, David W Crabb, Praveen Kusumanchi, Li Wang, Suthat Liangpunsakul, Zhengsheng Zou
BACKGROUND: Only a subset of patients with excessive alcohol use develop alcoholic liver disease (ALD), though the exact mechanism is not completely understood. Once ingested, alcohol is metabolized by 2 key oxidative enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). There are 2 major ALDH isoforms, cytosolic and mitochondrial, encoded by the aldehyde ALDH1 and ALDH2 genes, respectively. The ALDH2 gene was hypothesized to alter genetic susceptibility to alcohol dependence and alcohol-induced liver diseases...
March 20, 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29776682/the-impact-of-apolipoprotein-e-alleles-on-cognitive-performance-in-patients-with-parkinson-s-disease
#2
Anna Pierzchlińska, Monika Białecka, Mateusz Kurzawski, Jarosław Sławek
Apolipoprotein E (ApoE) is a vital component of several lipoproteins and plays a major role in lipid metabolism. APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. However, the impact of APOE genotypes on Parkinson's Disease Dementia (PDD) is still inconclusive. The PDD diagnostic criteria are very inconsistent, and could be complemented with genetic factors...
May 5, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29776318/ppard-rs7770619-polymorphism-in-a-korean-population-association-with-plasma-malondialdehyde-and-impaired-fasting-glucose-or-newly-diagnosed-type-2-diabetes
#3
Minjoo Kim, Minkyung Kim, Hye Jin Yoo, Yao Sun, Sang-Hyun Lee, Jong Ho Lee
Both the peroxisome proliferator-activated receptor delta gene ( PPARD) and malondialdehyde plasma concentrations may play a role in impaired glucose metabolism. The aim of this work was to determine whether PPARD is a candidate gene for impaired fasting glucose or type 2 diabetes and whether a particular genetic variant shows association with plasma malondialdehyde levels. Among the 10 single-nucleotide polymorphisms that were most strongly associated with malondialdehyde, the rs7770619 polymorphism in PPARD was analysed in 1798 subjects with normal fasting glucose, impaired fasting glucose and newly diagnosed type 2 diabetes...
May 1, 2018: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/29774528/slc40a1-and-cp-single-nucleotide-polymorphisms-in-porphyria-cutanea-tarda-patients-of-mixed-ancestry
#4
Isabella Brasil Succi, Luís Cristóvão Pôrto, Dayse Silva, Adriana Nascimento, Ronald Costa Neto, João Carlos Fonseca
Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated...
May 17, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29774036/the-pattern-and-distribution-of-induced-mutations-in-j-curcas-using-reduced-representation-sequencing
#5
Fatemeh Maghuly, Stephan Pabinger, Julie Krainer, Margit Laimer
Mutagenesis in combination with Genotyping by Sequencing (GBS) is a powerful tool for introducing variation, studying gene function and identifying causal mutations underlying phenotypes of interest in crop plant genomes. About 400 million paired-end reads were obtained from 82 ethylmethane sulfonate (EMS) induced mutants and 14 wild-type accessions of Jatropha curcas for the detection of Single Nucleotide Polymorphisms (SNPs) and Insertion/Deletions (InDels) by two different approaches (nGBS and ddGBS) on an Illumina HiSeq 2000 sequencer...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29766219/association-study-of-genetic-variants-in-estrogen-metabolic-pathway-genes-and-colorectal-cancer-risk-and-survival
#6
Shuwei Li, Lisheng Xie, Mulong Du, Kaili Xu, Lingjun Zhu, Haiyan Chu, Jinfei Chen, Meilin Wang, Zhengdong Zhang, Dongying Gu
Although studies have investigated the association of genetic variants and the abnormal expression of estrogen-related genes with colorectal cancer risk, the evidence remains inconsistent. We clarified the relationship of genetic variants in estrogen metabolic pathway genes with colorectal cancer risk and survival. A case-control study was performed to assess the association of single-nucleotide polymorphisms (SNPs) in ten candidate genes with colorectal cancer risk in a Chinese population. A logistic regression model and Cox regression model were used to calculate SNP effects on colorectal cancer susceptibility and survival, respectively...
May 16, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29765237/comparative-genomic-analysis-of-multidrug-resistant-streptococcus-pneumoniae-isolates
#7
Fen Pan, Hong Zhang, Xiaoyan Dong, Weixing Ye, Ping He, Shulin Zhang, Jeff Xianchao Zhu, Nanbert Zhong
Introduction: Multidrug resistance in Streptococcus pneumoniae has emerged as a serious problem to public health. A further understanding of the genetic diversity in antibiotic-resistant S. pneumoniae isolates is needed. Methods: We conducted whole-genome resequencing for 25 pneumococcal strains isolated from children with different antimicrobial resistance profiles. Comparative analysis focus on detection of single-nucleotide polymorphisms (SNPs) and insertions and deletions (indels) was conducted...
2018: Infection and Drug Resistance
https://www.readbyqxmd.com/read/29763368/matrix-metalloproteinase-9-gene-polymorphisms-and-their-interaction-with-environment-on-subarachnoid-hemorrhage-risk
#8
Tao Wang, Wanxing Fu, Shuang Song, Yanlong Han, Lihong Yao, Youkui Lu, Junshuai Zheng, Jing Wang
The current study aimed to investigate the relations of three single nucleotide polymorphisms of matrix metalloproteinase-9 gene, and single nucleotide polymorphisms-smoking interaction to subarachnoid hemorrhage risk. The optimal pattern of the interaction among single nucleotide polymorphisms and smoking was selected by generalized multifactor dimensionality reduction. The association between the three single nucleotide polymorphisms within the matrix metalloproteinase-9 gene was analyzed by logistic regression test...
May 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29762069/a-common-variation-in-the-caveolin-1-gene-is-associated-with-high-serum-triglycerides-and-metabolic-syndrome-in-an-admixed-latin-american-population
#9
Gustavo Mora-García, Doris Gómez-Camargo, Ángelo Alario, Claudio Gómez-Alegría
BACKGROUND: The caveolin 1 (CAV1) gene has been associated with metabolic traits in animal models and human cohorts. Recently, a prevalent variant in CAV1 has been found to be related to metabolic syndrome in Hispanics living in North America. Since Hispanics represent an admixed population at high risk for cardiovascular diseases, in this study a Latin American population with a similar genetic background was assessed. OBJECTIVE: To analyze a genetic association between CAV1 and metabolic traits in an admixed Latin American population...
May 15, 2018: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#10
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29755575/waist-hip-ratio-related-genetic-loci-are-associated-with-risk-of-impaired-fasting-glucose-in-chinese-children-a-case-control-study
#11
Qi-Ying Song, Xiang-Rui Meng, Anke Hinney, Jie-Yun Song, Tao Huang, Jun Ma, Hai-Jun Wang
Background: The meta-analyses of genome-wide association studies identified several waist-hip ratio (WHR) related loci in individuals of European ancestry. Since the pattern of fat distribution and the relationship between fat distribution and glucose metabolism disturbance in Chinese are different from those in Europeans, the present study aimed to explore the individual and cumulative effects of WHR-related loci on glycemic phenotypes in Chinese children. Methods: A total of 2030 children were recruited from two independent studies...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/29754063/transcriptional-responses-of-acropora-hyacinthus-embryo-under-the-benzo-a-pyrene-stress-by-deep-sequencing
#12
Rong Xiao, Hailong Zhou, Chien-Min Chen, Huamin Cheng, Hongwu Li, Jia Xie, Hongwei Zhao, Qian Han, Xiaoping Diao
Coral embryos are a critical and sensitive period for the early growth and development of coral. Benzo(a)pyrene (BaP) is widely distributed in the ocean and has strong toxicity, but there is little information on the toxic effects to coral embryos exposed to this widespread environmental contaminant. Thus, in this study, we utilized the Illumina Hiseq™ 4000 platform to explore the gene response of Acropora hyacinthus embryos under the BaP stress. A total of 130,042 Unigenes were obtained and analyzed, and approximately 37...
April 24, 2018: Chemosphere
https://www.readbyqxmd.com/read/29745043/nomograms-incorporating-genetic-variants-in-bmp-smad4-hamp-pathway-to-predict-disease-outcomes-after-definitive-radiotherapy-for-non-small-cell-lung-cancer
#13
Ju Yang, Ting Xu, Daniel R Gomez, Xianglin Yuan, Quynh-Nhu Nguyen, Melenda Jeter, Yipeng Song, Ritsuko Komaki, Ye Hu, Stephen M Hahn, Zhongxing Liao
Hepcidin is crucial in regulating iron metabolism, and increased serum levels were strongly linked with poor outcomes in various malignancies. Thus, we investigated if genetic variants in the BMP/Smad4/Hamp hepcidin-regulating pathway were associated with outcomes in patients receiving definitive radiotherapy for NSCLC. Subjects were 664 NSCLC patients who received ≥60 Gy radiotherapy for NSCLC retrospectively identified from a single-institution database. Potentially, functional and tagging single nucleotide polymorphisms (SNPs) of BMP2 (rs170986, rs1979855, rs1980499, rs235768, and rs3178250), BMP4 (rs17563, rs4898820, and rs762642), Smad4 (rs12456284), and Hamp (rs1882694, rs10402233, rs10421768, and rs12971321) were genotyped by TaqMan real-time polymerase chain reaction...
May 9, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29743093/icam-1-related-long-non-coding-rna-promoter-analysis-and-expression-in-human-retinal-endothelial-cells
#14
Amanda L Lumsden, Yuefang Ma, Liam M Ashander, Andrew J Stempel, Damien J Keating, Justine R Smith, Binoy Appukuttan
OBJECTIVE: Regulation of intercellular adhesion molecule (ICAM)-1 in retinal endothelial cells is a promising druggable target for retinal vascular diseases. The ICAM-1-related (ICR) long non-coding RNA stabilizes ICAM-1 transcript, increasing protein expression. However, studies of ICR involvement in disease have been limited as the promoter is uncharacterized. To address this issue, we undertook a comprehensive in silico analysis of the human ICR gene promoter region. RESULTS: We used genomic evolutionary rate profiling to identify a 115 base pair (bp) sequence within 500 bp upstream of the transcription start site of the annotated human ICR gene that was conserved across 25 eutherian genomes...
May 9, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29738550/genome-wide-association-meta-analysis-of-circulating-odd-numbered-chain-saturated-fatty-acids-results-from-the-charge-consortium
#15
Marcia C de Oliveira Otto, Rozenn N Lemaitre, Qi Sun, Irena B King, Jason H Y Wu, Ani Manichaikul, Stephen S Rich, Michael Y Tsai, Y D Chen, Myriam Fornage, Guan Weihua, Stella Aslibekyan, Marguerite R Irvin, Edmond K Kabagambe, Donna K Arnett, Majken K Jensen, Barbara McKnight, Bruce M Psaty, Lyn M Steffen, Caren E Smith, Ulf Risérus, Lars Lind, Frank B Hu, Eric B Rimm, David S Siscovick, Dariush Mozaffarian
BACKGROUND: Odd-numbered chain saturated fatty acids (OCSFA) have been associated with potential health benefits. Although some OCSFA (e.g., C15:0 and C17:0) are found in meats and dairy products, sources and metabolism of C19:0 and C23:0 are relatively unknown, and the influence of non-dietary determinants, including genetic factors, on circulating levels of OCSFA is not established. OBJECTIVE: To elucidate the biological processes that influence circulating levels of OCSFA by investigating associations between genetic variation and OCSFA...
2018: PloS One
https://www.readbyqxmd.com/read/29736187/-tcf7l2-correlation-in-both-insulin-secretion-and-postprandial-insulin-sensitivity
#16
Mari Cassol Ferreira, Maria Elizabeth Rossi da Silva, Rosa Tsuneshiro Fukui, Maria do Carmo Arruda-Marques, Rosa Ferreira Dos Santos
Background: The TCF7L2 rs7903146 variant is strongly associated with type 2 diabetes mellitus (T2DM). However, the mechanisms involved in this association remain unknown and may include extrapancreatic effects. The aim of this study was to perform a metabolic characterization of T2DM patients with and without the TCF7L2 rs7903146 risk T allele and analyze some influences of the TCF7L2 genotype on glucose metabolism. Methods: Patients with T2DM ( n  = 162) were genotyped for the TCF7L2 rs7903146 single nucleotide polymorphism...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29736057/a-preliminary-study-of-association-of-genetic-variants-with-early-response-to-olanzapine-in-schizophrenia
#17
Anmol Singh, Ram Pratap Beniwal, Prachi Kukshal, Triptish Bhatia, B K Thelma, Smita N Deshpande
Background: Treatment response can be predicted in schizophrenia by DNA information in the drug metabolism pathways. This study aimed to examine clinical characteristics and genetic determinant (s) of early response to olanzapine treatment in schizophrenia using specified drug metabolizing genes. Materials and Methods: Consenting participants ( n = 33) suffering from schizophrenia were diagnosed on Diagnostic Interview for Genetic Studies. Oral olanzapine was administered in an incremental dose up to 10 mg (2 weeks) and 20 mg (6 weeks)...
January 2018: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/29733390/increase-in-tacrolimus-exposure-after-steroid-tapering-is-influenced-by-cyp3a5-and-pregnane-x-receptor-genetic-polymorphisms-in-renal-transplant-recipients
#19
Frank Stifft, Sander M J van Kuijk, Otto Bekers, Maarten H L Christiaans
Background: Tacrolimus, a drug for prevention of rejection after kidney transplantation, has a narrow therapeutic window and is metabolized by the cytochrome P540 3A (CYP3A) system. Tacrolimus exposure increases after steroid tapering in many patients. The pregnane X receptor (PXR)-a mediator for CYP3A-has a steroid receptor and might regulate CYP3A5 activity depending on single nucleotide polymorphisms (SNPs) of CYP3A5 or PXR. This may contribute to differences in tacrolimus exposure after steroid tapering...
May 3, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29731064/association-of-the-pck2-gene-polymorphism-with-new-onset-glucose-intolerance-in-japanese-kidney-transplant-recipients
#20
N Yokoyama, T Ishimura, T Oda, S Ogawa, K Yamamoto, M Fujisawa
BACKGROUND: New-onset diabetes mellitus after transplantation (NODAT) is a risk factor for both cardiovascular disease and poor graft survival after kidney transplantation (KTx). In this study, we identified single-nucleotide polymorphisms (SNPs) in genes involved in glucose metabolism and examined the correlation between these SNPs and glucose intolerance after KTx. METHODS: Thirty-eight patients with normal glucose tolerance before KTx were included in this study...
May 2018: Transplantation Proceedings
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