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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/29348398/association-study-of-polymorphisms-in-genes-relevant-to-vitamin-b12-and-folate-metabolism-with-childhood-autism-spectrum-disorder-in-a-han-chinese-population
#1
Zengyu Zhang, Lianfang Yu, Sufang Li, Jun Liu
BACKGROUND Both genetic and environmental factors play a role in the development of autism spectrum disorder (ASD). This case-control study examined the association between childhood ASD and single-nucleotide polymorphisms (SNPs) in genes involved with vitamin B12 and folate metabolism. MATERIAL AND METHODS Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with ASD and 200 healthy controls from the Han Chinese population...
January 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29344273/a-single-nucleotide-polymorphism-in-cyp1b1-leads-to-differential-prostate-cancer-risk-and-telomere-length
#2
Cheng-Yuan Gu, Gao-Xiang Li, Yu Zhu, Hua Xu, Yao Zhu, Xiao-Jian Qin, Dai Bo, Ding-Wei Ye
BACKGROUND: Cytochrome P450 1B1 (CYP1B1) is a key enzyme in its oestrogen metabolism pathway, giving rise to hydroxylation and conjugation. Functionally relevant genetic variants within CYP1B1 may affect the telomere length and subsequently lead to prostate carcinogenesis. METHODS: We evaluated 8 CYP1B1 tag single nucleotide polymorphisms (SNPs) in 1015 men with prostate cancer (PCa) and 1052 cancer-free controls, and calculated odds ratios (ORs) and 95% confidence intervals (CIs) to estimate their association with risk of PCa...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29343214/establishing-a-genetic-link-between-fto-and-vdr-gene-polymorphisms-and-obesity-in-the-emirati-population
#3
Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar
BACKGROUND: Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely FTO (rs9939609) and VDR (rs1544410), with obesity in the UAE population...
January 17, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29342889/a-case-control-study-of-the-genetic-variability-in-reactive-oxygen-species-metabolizing-enzymes-in-melanoma-risk
#4
Tze-An Yuan, Vandy Yourk, Ali Farhat, Argyrios Ziogas, Frank L Meyskens, Hoda Anton-Culver, Feng Liu-Smith
Recent studies have shown that ultraviolet (UV)-induced chemiexcitation of melanin fragments leads to DNA damage; and chemiexcitation of melanin fragments requires reactive oxygen species (ROS), as ROS excite an electron in the melanin fragments. In addition, ROS also cause DNA damages on their own. We hypothesized that ROS producing and metabolizing enzymes were major contributors in UV-driven melanomas. In this case-control study of 349 participants, we genotyped 23 prioritized single nucleotide polymorphisms (SNPs) in nicotinamide adenine dinucleotide phosphate (NADPH) oxidases 1 and 4 (NOX1 and NOX4, respectively), CYBA, RAC1, superoxide dismutases (SOD1, SOD2, and SOD3) and catalase (CAT), and analyzed their associated melanoma risk...
January 14, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29341862/identification-of-three-genetic-variants-as-novel-susceptibility-loci-for-body-mass-index-in-a-japanese-population
#5
Yoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Yoshiji Yamada
Recent genome-wide association studies have identified various obesity or metabolic syndrome (MetS) susceptibility loci. However, most studies were conducted in a cross-sectional manner. To address this gap, we performed a longitudinal exome-wide association study to identify susceptibility loci for obesity and MetS in a Japanese population. We traced clinical data of 6022 Japanese who had annual health check-ups for several years (mean follow-up period, 5 years), and genotyped ~244,000 genetic variants. The association of single nucleotide polymorphisms (SNPs) with body mass index (BMI) or the prevalence of obesity and MetS was examined using a generalized estimating equation model...
January 12, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29340733/population-pharmacokinetics-of-lamotrigine-co-administered-with-valproic-acid-in-chinese-epileptic-children-using-nonlinear-mixed-effects-modeling
#6
Shansen Xu, Limin Liu, Yanan Chen, Mei Liu, Tong Lu, Huanxin Wang, Shihao Liu, Mingming Zhao, Limei Zhao
PURPOSE: The aims of this study were to develop a population pharmacokinetic (PPK) model of lamotrigine (LTG) in Chinese epileptic children by using nonlinear mixed effects modeling (NONMEM) and to investigate the effects of valproic acid (VPA) and genetic polymorphisms of the major metabolizing enzymes (UGT1A4, UGT2B7) on the pharmacokinetics of LTG. METHODS: A total of 182 epileptic children who were treated with LTG as monotherapy or as part of combination therapy were included in this study as the model group, and 61 patients were included as the validation group...
January 16, 2018: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29340111/effect-of-dihydropyrimidine-dehydrogenase-single-nucleotide-polymorphisms-on-prognosis-of-breast-cancer-patients-with-chemotherapy
#7
Fengxia Qin, Huikun Zhang, Yong Huang, Limin Yang, Feng Yu, Xiaoli Liu, Li Fu, Feng Gu, Yongjie Ma
Defining biomarkers that predict therapeutic effects and adverse events is a crucial mandate to guide patient selection for personalized cancer treatments. DPD (dihydropyrimidine dehydrogenase, encoded by DPYD gene) is the initial and rate-limiting enzyme of metabolic pathway of fluoropyrimidines, and fluoropyrimidines are common used drug therapies for breast cancer. Previous studies on DPYD polymorphism were mainly focused on its association with fluoropyrimidines toxicity. In our present study, 5 DPYD single nucleotide polymorphisms status was detected from tumor tissues of 331 invasive breast cancer patients using standard techniques...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29338791/associations-of-the-hypertension-related-single-nucleotide-polymorphism-rs11191548-with-high-density-lipoprotein-cholesterol-and-leptin-in-chinese-children
#8
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
BACKGROUND: The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms are not understood and the associations of the SNP with hypertension-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNP and two hypertension-related traits, lipids and leptin...
January 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29338102/circulating-serum-25-hydroxyvitamin-d-levels-and-bone-mineral-density-mendelian-randomization-study
#9
Susanna C Larsson, Håkan Melhus, Karl Michaëlsson
There is considerable discussion of the importance for increased serum 25-hydroxyvitamin D (S-25OHD) concentration associated with adequacy for bone health. Accordingly, whether long-term high S-25OHD concentration in general positively affects bone mineral density (BMD) is uncertain. We used a Mendelian randomization design to determine the association between genetically increased S-25OHD concentrations and BMD. Five single-nucleotide polymorphisms (SNPs) in or near genes encoding enzymes and carrier proteins involved in vitamin D synthesis or metabolism were used as instrumental variables to genetically predict one standard deviation increase in S-25OHD concentration...
January 16, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29329304/a-novel-method-to-test-associations-between-a-weighted-combination-of-phenotypes-and-genetic-variants
#10
Huanhuan Zhu, Shuanglin Zhang, Qiuying Sha
Many complex diseases like diabetes, hypertension, metabolic syndrome, et cetera, are measured by multiple correlated phenotypes. However, most genome-wide association studies (GWAS) focus on one phenotype of interest or study multiple phenotypes separately for identifying genetic variants associated with complex diseases. Analyzing one phenotype or the related phenotypes separately may lose power due to ignoring the information obtained by combining phenotypes, such as the correlation between phenotypes. In order to increase statistical power to detect genetic variants associated with complex diseases, we develop a novel method to test a weighted combination of multiple phenotypes (WCmulP)...
2018: PloS One
https://www.readbyqxmd.com/read/29325775/nutrigenetic-variants-and-cardio-metabolic-risk-in-women-with-or-without-gestational-diabetes
#11
Marica Franzago, Federica Fraticelli, Daniela Marchetti, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna
AIM: Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy and it can be considered a silent risk associated to T2DM and CVD later in life. The aim of this study was to investigate the association of clinical parameters with nine single nucleotide polymorphisms (SNPs) involved with nutrients and metabolism in women with or without GDM in order to identify potential routine clinical markers for early prevention. METHODS: Nine gene variants associated with nutrients and metabolism, namely PPARG2 rs1801282 (C>G); PPARGC1A rs8192678 (C>T); TCF7L2 rs7903146 (C>T); LDLR rs2228671 (C>T); MTHFR rs1801133 (C>T); APOA5 rs662799 (T>C); GCKR rs1260326 (C>T); FTO rs9939609 (T>A); MC4R rs17782313 (T>C) were genotyped in 104 GDM cases and 124 controls using High Resolution Melting (HRM) analysis...
January 8, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29319893/possible-role-of-cyp2b6-genetic-polymorphisms-in-ifosfamide-induced-encephalopathy-report-of-three-cases
#12
Thomas Duflot, Aude Marie-Cardine, Céline Verstuyft, Bruno Filhon, Tony Pereira, Nathalie Massy Guillemant, Robinson Joannidès, Jérémy Bellien, Fabien Lamoureux
Ifosfamide (IFA) is a potent alkylating antitumoral agent but its use is limited by neurological side effects. IFA is a racemic mixture of two enantiomeric forms, R-IFA and S-IFA with a stereoselective metabolism by CYP3A4 and CYP2B6, leading either to bioactive or to toxic pathways. In 3 consecutive cases of pediatric patients who exhibited ifosfamide-induced encephalopathy (IIE), genotyping of clinically relevant single nucleotide polymorphisms associated with decreased CYP3A4 and CYP2B6 activities was performed...
January 10, 2018: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/29316495/vdr-and-gc-gene-polymorphisms-modulate-the-risk-of-lumbar-disc-degeneration-in-iran
#13
Sohail Mashayekhi, Alia Saberi, Zivar Salehi, Gelareh Biazar, Roghayeh Mehrdel
OBJECTIVE: Lumbar disc degeneration (LDD) occurs commonly in humans. Vitamin D metabolic and signaling pathway plays a significant role in intervertebral disc degeneration. The aim of this study was to evaluate the influence of the genetic polymorphism in the two key genes of 1,25-(OH)2-D3 pathway, VDR (vitamin D receptor) and GC (group-specific component), in LDD development. PATIENTS AND METHODS: Two single-nucleotide polymorphisms, VDR rs2228570 (FokI) and GC rs7041, were genotyped in 180 patients with LDD and 230 healthy individuals...
December 29, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29316088/beyond-genome-wide-significance-integrative-approaches-to-the-interpretation-and-extension-of-gwas-findings-for-alcohol-use-disorder
#14
Jessica E Salvatore, Shizhong Han, Sean P Farris, Kristin M Mignogna, Michael F Miles, Arpana Agrawal
Alcohol use disorder (AUD) is a heritable complex behavior. Due to the highly polygenic nature of AUD, identifying genetic variants that comprise this heritable variation has proved to be challenging. With the exception of functional variants in alcohol metabolizing genes (e.g. ADH1B and ALDH2), few other candidate loci have been confidently linked to AUD. Genome-wide association studies (GWAS) of AUD and other alcohol-related phenotypes have either produced few hits with genome-wide significance or have failed to replicate on further study...
January 9, 2018: Addiction Biology
https://www.readbyqxmd.com/read/29312594/investigation-of-tcf7l2-lep-and-lepr-polymorphisms-with-esophageal-squamous-cell-carcinomas
#15
Hao Qiu, Xunting Lin, Weifeng Tang, Chao Liu, Yu Chen, Hao Ding, Mingqiang Kang, Shuchen Chen
Single nucleotide polymorphisms (SNPs) in energy metabolism related gene may be key agents in the development of human malignancies. In this study, we aimed to examine the association of transcription factor 7-like 2, Leptin (LEP) and LEP receptor (LEPR) polymorphisms with esophageal squamous cell carcinoma (ESCC). A total of 507 ESCC cases and 1,496 controls were enrolled. We found that LEPR rs6588147 AA genotype was associated with ESCC risk (AA vs. GG/GA: adjusted OR=1.90, 95%CI=1.00-3.61, P=0.049). In the stratified analyses, LEPR rs6588147 G>A polymorphism increased the risk of ESCC (<63 years subgroup: AA vs...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29311482/population-pharmacokinetics-and-adverse-events-of-erlotinib-in-japanese-patients-with-non-small-cell-lung-cancer-impact-of-genetic-polymorphisms-in-metabolizing-enzymes-and-transporters
#16
Chihiro Endo-Tsukude, Ji-Ichiro Sasaki, Sho Saeki, Norihiro Iwamoto, Megumi Inaba, Sunao Ushijima, Hiroto Kishi, Shinji Fujii, Hiroshi Semba, Kosuke Kashiwabara, Yukari Tsubata, Mitsuhiro Hayashi, Yuki Kai, Hideyuki Saito, Takeshi Isobe, Hirotsugu Kohrogi, Akinobu Hamada
Determinants of interindividual variability in erlotinib pharmacokinetics (PK) and adverse events remain to be elucidated. This study with 50 Japanese non-small-cell lung cancer patients treated with oral erlotinib at a standard dose of 150 mg aimed to investigate whether genetic polymorphisms affect erlotinib PK and adverse events. Single nucleotide polymorphisms (SNPs) in genes encoding metabolizing enzymes (CYP1A1, CYP1A2, CYP2D6, CYP3A4, CYP3A5, UGT1A1, UGT2B7, GSTM1, and GSTT1) or efflux transporters (ABCB1, and ABCG2) were analyzed as covariates in a population PK model...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29310573/association-of-rs662799-in-apoa5-with-cad-in-chinese-han-population
#17
Hua Chen, Shifang Ding, Mi Zhou, Xiayin Wu, Xi Liu, Yun Wu, Dechao Liu
BACKGROUND: CAD (Coronary Artery Disease) is a complex disease that influenced by various environmental and genetic factors. Previous studies have found many single nucleotide polymorphisms (SNPs) associated with the risk of CAD occurrence. However, the results are inconsistent. In this study, we aim to investigate genetic etiology in Chinese Han population by analysis of 7 SNPs in lipid metabolism pathway that previously has been reported to be associated with CAD. METHODS: A total of 631 samples were used in this study, including 435 CAD cases and 196 normal healthy controls...
January 8, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29304826/the-snp-rs10911021-is-associated-with-oxidative-stress-in-coronary-heart-disease-patients-from-pakistan
#18
Saleem Ullah Shahid, Shabana, Steve Humphries
BACKGROUND: rs10911021 (a single nucleotide polymorphism present upstream of the GLUL gene) affects glutamic acid metabolism, and was shown to be associated with coronary heart disease (CHD) in patients with T2DM but a definite mechanism is unknown. It may affect glutathione cycle, an important effector in the antioxidant defense mechanism, in the cells. We checked the association of this SNP with CHD and oxidative stress biomarkers, malondialdeheyde (MDA), GSH and GSSG in Pakistani patients...
January 5, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29302220/a-brief-review-of-the-genetics-and-pharmacogenetics-of-opioid-use-disorders
#19
Wade Berrettini
Increased physician prescribing of opioids to treat chronic nonprogressive pain has been accompanied by an increase in opioid addiction. Twin studies of opioid addiction are consistent with an inherited component of risk, approximately 50%. Several genome-wide association study (GWAS) reports indicate that genetic risk for opioid addiction is conveyed by many alleles of small effect (odds ratios <1.5). These reports have detected alleles in potassium-ion-channel genes (KCNC1 and KCNG2) and in a glutamate receptor auxiliary protein (CNIH3)...
September 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29301492/effect-of-grm7-polymorphisms-on-the-development-of-noise-induced-hearing-loss-in-chinese-han-workers-a-nested-case-control-study
#20
Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu, Shanfa Yu
BACKGROUND: Noise-induced hearing loss (NIHL) is a complex, irreversible disease caused by the interaction of genetic and environmental factors. In recent years, a great many studies have been done to explore the NIHL susceptibility genes among humans. So far, high powerful detections have been founded that genes of potassium ion channel genes (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heart shock protein (HSP70) which have been identified in more than one population may be associated with the susceptibility to NIHL...
January 5, 2018: BMC Medical Genetics
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