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A-Mei Zhang, Cheng-Lin Zhang, Yuzhu Song, Ping Zhao, Yue Feng, Binghui Wang, Zheng Li, Li Liu, Xueshan Xia
OBJECTIVES: About 2% of the world population infected with Hepatitis C virus (HCV), which was one of the main reasons for hepatic cirrhosis and hepatocellular carcinoma. Recently, NPC1L1 was identified to be an important factor for HCV entry into host cells. Whether genetic variations of the NPC1L1 gene were associated with HCV-infection was unknown. METHODS: In this study, we analyzed five single nucleotide polymorphisms (SNPs) of the NPC1L1 gene in 261 HCV-infected individuals and 265 general controls from Yunnan Province, China...
October 18, 2016: International Journal of Infectious Diseases: IJID
Peng Chen, Zhengshuai Chen, Jinglie Li, Hua Yang, Yuanyuan Zhu, Ning Zhang, Mengdan Yan, Yuan Shao, Chao Chen, Tianbo Jin
We examined the multigenetic index on the progression of laryngeal carcinoma in Chinese population. This study aims to assess the effects of single nucleotide polymorphisms (SNPs) on survival of Laryngeal Carcinoma (LC) patients. Eighteen SNPs were selected and genotyped using the Sequenom iPLEX genotyping system in a cohort of 170 resected Chinese LC patients. Multivariate Cox proportional hazards model and Kaplan-Meier curve were used for the prognosis analysis. Overall, the median survival time (MST) was 38...
September 28, 2016: Oncotarget
Aliye Akcalı, Pınar Gümüş, Özgün Özçaka, Banu Öztürk-Ceyhan, Taina Tervahartiala, Heidi Husu, Anna Maria Heikkinen, Timo Sorsa, Nurcan Buduneli
OBJECTIVES: The study evaluated the levels of matrix metalloproteinase-8 (MMP-8), MMP-9, and tissue inhibitor of metalloproteinase-1 (TIMP-1) in biofluids of women with gestational diabetes mellitus (GDM) and systemically healthy counterparts with different status of periodontal health. MATERIALS & METHODS: 71 women with GDM and gingivitis (Gg), 30 women with GDM and healthy periodontium (Gh), 28 systemically and periodontally healthy women (Hh) and 37 systemically healthy women with gingivitis (Hg) were evaluated...
October 20, 2016: Journal of Periodontology
Asami Fujii, Naoya Inoue, Mikio Watanabe, Chisa Kawakami, Yoh Hidaka, Yoshihide Hayashizaki, Yoshinori Iwatani
BACKGROUND: Graves' disease (GD) and Hashimoto's disease (HD) are autoimmune thyroid diseases distinguished by the presence or absence of an anti-thyroid stimulating hormone receptor (TSHR) antibody (TRAb). TSHR gene polymorphisms determine the amount of TSHR expressed, which may in turn influence TRAb production. The FANTOM5 project identified six GD-associated SNPs within the enhancer regions of TSHR and unknown genes. In this study, we examined the association of 11 TSHR and unknown gene polymorphisms, 5 of which are located in TSHR enhancer regions, with the development and prognosis of GD and HD...
October 20, 2016: Thyroid: Official Journal of the American Thyroid Association
Qin-Xiang Sun, Hai-Mei Zhou, Qing-Wei Du
BACKGROUND Because genotype CG/GG of Furin rs2071410 can increase susceptibility to hypertension, this study investigated whether Furin rs2071410 is correlated with transient ischemic attack (TIA) susceptibility and prognosis. MATERIAL AND METHODS The odds ratios (ORs) and their 95% confidence intervals (95% CIs) were evaluated to assess the association of rs2071410 with TIA risk, and logistic regression was used to estimate the effects of various risk factors (e.g., diabetes, hypertension, and hyperlipidemia) on TIA...
October 19, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Ou Liu, Wuxiang Xie, Yanwen Qin, Lixin Jia, Jing Zhang, Yi Xin, Xinliang Guan, Haiyang Li, Ming Gong, Yuyong Liu, Xiaolong Wang, Jianrong Li, Feng Lan, Hongjia Zhang
Matrix metalloproteinases-2 (MMP-2) plays an important role in the pathogenesis of type A aortic dissection (AD). The aim of this study was to evaluate the association of 3 single nucleotide polymorphisms (SNPs) in the MMP-2 gene with type A AD risk and aortic diameters in patients. We performed a case-control study with 172 unrelated type A AD patients and 439 controls. Three SNPs rs11644561, rs11643630, and rs243865 were genotyped through the MassARRAY platform. Allelic associations of SNPs and SNP haplotypes with type A AD and aortic diameters in patients were evaluated...
October 2016: Medicine (Baltimore)
Mehmet Saraç, Ebru Önalan, Ünal Bakal, Tugay Tartar, Mustafa Aydın, Ayşen Orman, Ahmet Tektemur, Erdal Taşkın, Fatih Serhat Erol, Ahmet Kazez
BACKGROUND: To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg(2+) and calcium levels were also examined...
2016: SpringerPlus
Damla Tokac, Erdem Tuzun, Huseyin Gulec, Vuslat Yılmaz, Elif Sinem Bireller, Bedia Cakmakoglu, Cem Ismail Kucukali
OBJECTIVE: Bipolar disorder (BD) is a debilitating psychiatric disease with unknown etiology. Recent studies have shown inflammation as a potential contributing factor of BD pathogenesis. However, potential associations between chemokine and chemokine receptor polymorphisms and BD have been fundamentally understudied. To identify participation of chemokines in BD pathogenesis, we examined genetic variants of several chemokine and chemokine receptor genes. METHODS: The study population comprised 200 patients with BD and 195 age- and sex-matched healthy controls...
September 2016: Psychiatry Investigation
Onder Ozturk, Burge Kabukcu Basay, Ahmet Buber, Omer Basay, Huseyin Alacam, Ali Bacanlı, Şenay Görücü Yılmaz, Mehmet Emin Erdal, Hasan Herken, Eyup Sabri Ercan
OBJECTIVE: Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that negatively affects different areas of life. We aimed to evaluate the associations between the Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) and ADHD and to assess the effect of the BDNF polymorphism on the neurocognitive profile and clinical symptomatology in ADHD. METHODS: Two hundred one ADHD cases and 99 typically developing subjects (TD) between the ages of 8 and 15 years were involved in the study...
September 2016: Psychiatry Investigation
G Díaz-Soto, E Romero, J L Pérez-Castrillón, O I Jauregui, D de Luis Román
Although normocalcemic and asymptomatic hyperparathyroidism (HPT) are becoming more common, they remain only partially understood. Parathyroid hormone (PTH) polymorphisms have been associated with disease severity in classical HPT. The aim of the present study was to evaluate the clinical effect of PTH polymorphism (rs6254) in normocalcemic and asymptomatic HPT. A prospective study of 61 consecutive patients with normocalcemic or asymptomatic HPT was carried out. Secondary causes of HPT were ruled out. All patients were followed for≥1 year...
October 18, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Silvia Mahmood, Andrea Evinová, Mária Škereňová, Igor Ondrejka, Ján Lehotský
BACKGROUND: Major depressive disorder (MDD) is a main public health concern worldwide. Despite extensive investigations, the exact mechanisms responsible for MDD have not been identified. Epidermal growth factor (EGF) and insulin growth factor binding protein-3 (IGFBP-3) are involved in brain function. Tumour suppressor protein p53 is widely involved in neuronal death in response to different forms of acute insults and neurological disorders. The present study focuses on the possible associations of the single-nucleotide polymorphisms (SNP) of EGF A61G (rs4444903), IGFBP-3 C32G (rs2854746) and TP53 G72C (rs1042522) genes with MDD risk in the Slovak population...
September 2016: Central European Journal of Public Health
Huan Wang, Hui Chen
OBJECTIVE: Circadian rhythm disruption is shown to be the cause of various health disorders. CLOCK and BMAL1, two core circadian transcription factors, were associated with the regulation of glucose homeostasis. This study evaluated the association between single nucleotide polymorphisms in CLOCK and BMAL1 gene and insulin resistance (IR) in hypertensive patients. DESIGN AND METHOD: We collected 334 outpatients with essential hypertension (EH), who have not taken any antihypertensive agents or stopped the medications for at least a week for this case-control study...
September 2016: Journal of Hypertension
Stephen Harrap, Angela Lamantia, James Ziogas, Jane Bourke
OBJECTIVE: Glyceryl trinitrate (GTN) is used to treat angina and lower blood pressure. The enzyme mitochondrial aldehyde dehydrogenase-2 (ALDH2) can activate GTN. The polymorphism (Gly504Lys) in the gene encoding ALDH2 is associated with significantly reduced enzyme activity and potentially diminished responses to GTN. DESIGN AND METHOD: Systolic blood pressure (SBP) was measured continuously (Finometer Midi) during 2 orthostatic challenges in 493 healthy young adults (mean age 22 y), 390 of whom took 300 μg GTN sublingually 5 min prior to the second challenge and 103 subjects of whom were untreated...
September 2016: Journal of Hypertension
Risa Ramadhiani, Muhammad Saifur Rohman, Nashi Widodo, Valerinna Y S Putri, Mifetika Lukitasari, Jayarani F Putri, Didik H Utomo
OBJECTIVE: To investigate whether the angiotensinogen (AGT) G-217A polymorphism affects blood pressure response of telmisartan and valsartan in hypertensive patients. DESIGN AND METHOD: A total of 46 primary hypertensive patients, 23 patients received telmisartan 80 mg and 23 patients received valsartan 160 mg, were observed and followed up for 4 months. The AGT G-217A polymorphism was determined by PCR-RFLP and direct sequencing method. Blood pressure response was measured daytime (6 am - 10 pm), night-time (10 pm - 6 am), and 24 hours using twenty-four hours ambulatory blood pressure monitoring (ABPM)...
September 2016: Journal of Hypertension
Syed Tasleem Raza, Shania Abbas, Farzana Mahdi
OBJECTIVE: Hypertension (HTN) is the most common cardiovascular disease and is assuming epidemic proportions in developing countries. Genetic and environmental factors play important role in the development of hypertension.The objective of this study was to investigate the possible association of ACE, FABP2, PPARG2, GST, FTO and CYP46A1 genes polymorphism and susceptibility of individuals to HTN. DESIGN AND METHOD: This case control study includes 123 essential HTN cases and 102 controls...
September 2016: Journal of Hypertension
M Maddah, S Harsini, V Ziaee, M H Moradinejad, A Rezaei, S Zoghi, M Sadr, Y Aghighi, N Rezaei
Juvenile idiopathic arthritis (JIA) is a heterogeneous autoimmune disorder of unknown origin. As proinflammatory cytokines are known to contribute towards the pathogenesis of JIA, this case-control study was performed to examine the associations of certain single nucleotide polymorphisms (SNPs) of tumour necrosis factor-α (TNF-α) gene. Fifty-three patients with JIA participated in this study as patients group and compared with 137 healthy unrelated controls. Genotyping was performed for TNF-α gene at positions -308 and -238, using polymerase chain reaction with sequence-specific primers method...
October 18, 2016: International Journal of Immunogenetics
Paolo Dell'Oglio, Robert Jeffrey Karnes, Giorgio Gandaglia, Nicola Fossati, Armando Stabile, Marco Moschini, Vito Cucchiara, Emanuele Zaffuto, Pierre I Karakiewicz, Nazareno Suardi, Francesco Montorsi, Alberto Briganti
BACKGROUND: A new prostate cancer (PCa) grading system (namely, Gleason score-GS- ≤6 vs. 3 + 4 vs. 4 + 3 vs. 8 vs. ≥9) was recently proposed and assessed on biochemical recurrence (BCR) showing improved predictive abilities compared to the commonly used three-tier system (GS ≤6 vs. 7 vs. ≥8). We assessed the predictive ability of the five-tier grade group (GG) system on harder clinical endpoint, namely clinical recurrence (CR). METHODS: Between 2005 and 2014, 9,728 clinically localized PCa patients were treated with radical prostatectomy (RP) at two tertiary referral centers...
October 18, 2016: Prostate
Mohammad Reza Safari, Soudeh Ghafouri-Fard, Rezvan Noroozi, Arezou Sayad, Mir Davood Omrani, Alireza Komaki, Mohammad Mahdi Eftekharian, Mohammad Taheri
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls...
October 14, 2016: Gene
Catherine Forconi, Philippe Gatault, Elodie Miquelestorena-Standley, Johan Noble, Sally Al-Hajj, Romain Guillemain, Marc Stern, Thomas Hoffmann, Louis Prat, Caroline Suberbielle, Emeline Masson, Anne Cesbron-Gautier, Catherine Gaudy-Graffin, Alain Goudeau, Gilles Thibault, Fabrice Ivanes, Roseline Guibon, Ihab Kazma, Yvon Lebranchu, Matthias Büchler, Antoine Magnan, Jean-Michel Halimi, Christophe Baron
BACKGROUND: Cytomegalovirus (CMV) has a role in chronic rejection and graft loss in kidney transplant (KTx) and lung transplant (LTx) recipients. In addition, donor CMV seropositivity is an independent risk factor for renal graft loss. The anti-CMV response might modulate this risk. Expression of programmed cell death 1 (PD-1), a receptor involved in viral-specific T-cell exhaustion, is influenced by a single nucleotide polymorphism called PD-1.3 (wild-type allele G, variant allele A)...
August 26, 2016: Journal of Heart and Lung Transplantation
César Hernández-Guerrero, Paulina Hernández-Chávez, Inés Romo-Palafox, Grecia Blanco-Melo, Alicia Parra-Carriedo, Ana Pérez-Lizaur
BACKGROUND AND AIMS: Oxidative disturbance is an important factor involved in the etiology of comorbidities associated with obesity. Genetic polymorphisms such as SOD1 -251A>G, SOD2 47 C>T, CAT -21A>T and CAT -262 C>T have been described to alter the activity of antioxidant enzymes. The aim of the present work was to analyze the association of the mentioned SNPs with obesity and their relationship with anthropometric and clinical variables in this group. METHODS: The study included 416 Mexican women (208 normal weight, NW and 208 subjects with obesity, OB)...
July 2016: Archives of Medical Research
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