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Yanmei Yang, Qiaoshi Zhao, Yang Liu, Xiaona Liu, Yanru Chu, Huazhu Yan, Yumei Fan, Simeng Huo, Limei Wang, Qun Lou, Ning Guo, Dianjun Sun, Yanhui Gao
Skeletal fluorosis is a metabolic bone and joint disease caused by excessive accumulation of fluoride in the bones. Compared with Kazakhs, Tibetans are more likely to develop moderate and severe brick tea type skeletal fluorosis, although they have similar fluoride exposure. Single nucleotide polymorphisms (SNPs) in frizzled-related protein (FRZB) have been associated with osteoarthritis, but their association with the risk of skeletal fluorosis has not been reported. In this paper, we investigated the association of three SNPs (rs7775, rs2242070 and rs9288087) in FRZB1with brick tea type skeletal fluorosis risk in a cross-sectional case-control study conducted in Sinkiang and Qinghai, China...
May 21, 2018: Archives of Toxicology
Xiao Wei Shi, Feng Zhang, Zhi Yan Li, Ai Li Lyu, Xiong Guo
A case-control study was conducted to investigate associations between organophosphate pesticide (OP) exposure, aggression, impulsivity, and attempted suicide. The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) in COL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry...
April 2018: Biomedical and Environmental Sciences: BES
Peng Wang, Xiao Liu, Bin Zhu, Yunlong Ma, Lei Yong, Ze Teng, Chen Liang, Guanping He, Xiaoguang Liu
BACKGROUND: In our previous whole-genome sequencing study of 30 unrelated northern Chinese Han patients, we identified six single nucleotide polymorphisms (SNPs) in the interleukin 17 receptor C (IL17RC) and collagen type VI α1 chain (COL6A1) genes that were potentially associated with thoracic ossification of the posterior longitudinal ligament (T-OPLL). To determine whether these six SNPs are associated with susceptibility to T-OPLL in the northern Chinese Han population, we performed a case-control association study to confirm specific susceptible loci in the expanded samples...
May 15, 2018: Journal of Orthopaedic Surgery and Research
Q L Gao, X F Zhang, L Geng, T D Tian, X F Sun
Objective: To evaluate the association between single nucleotide polymorphisms (SNPs) of RS1826690 located in UGT2B4 gene and pathological complete response (pCR) to neoadjuvant chemotherapy in breast cancer patients. Methods: A total of 146 breast cancer patients were enrolled to detect the SNPs of RS1826690 by sequenom. The relationship between SNPs of RS1826690 and pCR, predictors of pCR were analyzed by univariate or multivariate analysis. Results: The frequency of CC, CT and TT genetype of RS1826690 was 20...
April 24, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Ayorinde Adehin, Babatunde A Adeagbo, Martin A Kennedy, Oluseye O Bolaji, Tiwalade A Olugbade, Rahman A Bolarinwa, Muheez A Durosinmi
Imatinib has been successful in the management of chronic myeloid leukemia (CML) but some patients experience adverse reactions or develop resistance to its use. The roles of some polymorphisms in genes encoding enzymes critical for the biotransformation of imatinib have been previously examined. This study, hence, evaluated some other unstudied functionally significant polymorphisms in CYP1A2, CYP2C8, CYP2C9, and CYP3A5. Trough imatinib blood levels and genotypes were determined in 42 CML patients by an HPLC-UV technique and a Sequenom iPLEX assay, respectively...
May 9, 2018: Leukemia & Lymphoma
Tian Tian, Meng Wang, Yi Zheng, Tielin Yang, Wenge Zhu, Hongtao Li, Shuai Lin, Kang Liu, Peng Xu, Yujiao Deng, Linghui Zhou, Zhijun Dai
Background: Forkhead box P3 ( FOXP3 ) is a key gene in the immune system which also plays a role in tumor development. This study aims to explore the association of two FOXP3 polymorphisms (rs3761548 and rs3761549) with susceptibility to breast cancer (BC). Method: A case-control study was conducted, involving 560 patients and 583 healthy individuals from the Chinese Han population. The genotypes of FOXP3 polymorphisms were detected using the Sequenom MassARRAY method...
2018: Cancer Management and Research
Lian Gu, Jingyan Huang, Jinhong Li, Siyun Huang, Minhua Li, Lin Gong, Tongshun Li, Li Su
A quantitative transcriptomics analysis has reported that Calmodulin 1 (CALM1) is highly expressed in human brain tissues. This study aims to evaluate the relationship between CALM1 rs3179089 polymorphism and ischemic stroke (IS) in Chinese Han population. A total of 550 patients with IS and 550 control subjects were recruited and genotyped using Sequenom MassArray technology. The mRNA expression of CALM1 was measured using quantitative real-time polymerase chain reaction. CALM1 mRNA expression was significantly higher in patients with IS than that in control subjects (P = 0...
April 30, 2018: Neuromolecular Medicine
Ying-Chin Lin, Wei-Jen Chen, Chao-Yuan Huang, Horng-Sheng Shiue, Chien-Tien Su, Pui-Lam Ao, Yeong-Shiau Pu, Hsueh Yu-Mei
The mechanisms underlying how arsenic methylation capacity affects bladder cancer (BC) are still unclear. The objective of this study was to explore the effects of polymorphisms of arsenic (+3 oxidation state) methyltransferase (AS3MT) on BC risk. We conducted a hospital-based study and enrolled 216 BC and 813 healthy controls from 2007 to 2011. Urinary arsenic profiles were measured using high-performance liquid chromatography-hydride generation-atomic absorption spectrometry. The gene polymorphisms of AS3MT were identified using the Sequenom MassARRAY platform with iPLEX Gold chemistry...
April 14, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
Nusrat Saba, Osman Yusuf, Sadia Rehman, Saeeda Munir, Amna Noor, Muhammad Saqlain, Atika Mansoor, Ghazala Kaukab Raja
Background: Genetic variations in different loci and genes are important in asthma pathogenesis. There is much importance of various immunological pathways in the IgE secretion regulation. Alterations in any main part of these pathways can increase the risk of asthma development. Polymorphisms in these genetic markers can effect certain pathways which predict the asthma susceptibility. In the present study, SNPs directly or indirectly affecting the immunological process pathways are selected...
2018: Asthma Research and Practice
Paulo Linhares, Marta Viana-Pereira, Mónica Ferreira, Júlia Amorim, Rui Nabiço, Filipe Pinto, Sandra Costa, Rui Vaz, Rui Manuel Reis
The vascular endothelial growth factor regulates angiogenesis that is increased in glioma. VEGF polymorphisms are thought to modulate vascular endothelial growth factor plasma levels and therefore may be implicated in glioma risk. We aimed to clarify the role of VEGF and von Willebrand factor polymorphisms in glioma susceptibility and prognosis. A case-control study of 126 glioma patients and 180 cancer-free controls was performed. Using Sequenom MassARRAY platform, 11 VEGF and 1 VWF polymorphisms were genotyped...
March 2018: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
Yi Zhu, Luo Guo, ShengZi Wang, Qun Yu, JianXiong Lu
A total of 200 smoking-related laryngeal carcinoma patients with pathology confirmation from the Eye and ENT Hospital and 190 high-risk smokers were included in a survey. All of the participants had a smoking index greater than 400 (cigarettes/day*year.) We obtained data on clinical and baseline characteristics, and peripheral blood was obtained and subjected to DNA extraction to analyse the correlation between smoking and the occurrence of laryngeal carcinoma. We selected candidate genes and SNP fragments that were found to be closely associated with smoking-related tumours in preliminary studies...
2018: Journal of Cancer
Yongping Chen, Bei Cao, Ruwei Ou, Qianqian Wei, Xueping Chen, Bi Zhao, Ying Wu, Wei Song, Hui-Fang Shang
Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson's disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations...
March 21, 2018: Journal of Molecular Neuroscience: MN
Donglei Zhang, Jieying Qin, Lin Li, Guannan Su, Guo Huang, Qingfeng Cao, Aize Kijlstra, Peizeng Yang
Fc receptors are known to have a pivotal role in the initiation and regulation of many immunological and inflammatory processes. This study aimed to investigate the association of Fc receptor family gene polymorphisms with ocular Behçet's disease (BD) in Han Chinese. A two stage case-control study was performed in 1022 BD cases and 1803 healthy controls. Twenty-three SNPs were genotyped using the MassARRAY system (Sequenom), TaqMan SNP Genotyping Assay and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
March 19, 2018: Scientific Reports
Xiaoqing Gong, Shenghui Mei, Xindi Li, Xingang Li, Heng Zhou, Yonghong Liu, Anna Zhou, Li Yang, Zhigang Zhao, Xinghu Zhang
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at
March 11, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang, Chaowei Fu
BACKGROUND: There are disparities for the association between uncoupling proteins (UCP) and type 2 diabetes (T2DM). The study was to examine the associations of genetic variants of UCP2 and UCP3 with prediabetes and T2DM in a rural Chinese population. METHODS: A population-based case-control study of 397 adults with T2DM, 394 with prediabetes and 409 with normal glucose tolerance (NGT) was carried out in 2014 in a rural community in eastern China. Three groups were identified through a community survey and the prediabetes and NGT groups were frequently matched by age and gender with the T2DM group and they were not relatives of T2DM subjects...
March 12, 2018: BMC Medical Genetics
Xue-Mei Zhong, Li Li, Huai-Zhen Wang, Xiao-Guang Zou, Ping Zhang, Mireban Rexiati, Maimaitiaili Tuerxun, Jie Ren, Mukeremu Yasen, Juan Zhang, Ai-Fang Zheng, Paierda Aini
Background: Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1-antitrypsin (Alpha-1-AT) expression affects the occurrence and progression of chronic obstructive pulmonary disease (COPD). We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region. Methods: From March 2013 to December 2015, a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region...
March 20, 2018: Chinese Medical Journal
Sheng Chen, Juan Zhang, Qi-Bing Liu, Jing-Cong Zhuang, Lei Wu, Yong-Feng Xu, Hong-Fu Li, Zhi-Ying Wu, Bao-Gou Xiao
Background: Multiple sclerosis (MS) is a common central nervous system autoimmune disorder. Increasing number of genome-wide association study (GWAS) analyses hint that MS is strongly associated with genetics. Unfortunately, almost all the GWAS analyses were Caucasian population based. Numbers of risk loci might not be replicated in Chinese MS patients. Hence, we performed a MassArray Assay to genotype the previously reported variants located in the transcription regulation genes in order to elucidate their role in the Chinese MS patients...
March 20, 2018: Chinese Medical Journal
Jia Liu, Lu Wang, Yun Qian, Juncheng Dai, Chong Shen, Guangfu Jin, Zhibin Hu, Hongbing Shen
AIM: Dozens of susceptibility loci have been identified by type 2 diabetes (T2D) genome wide association study (GWAS) in Europeans. In our previous studies, we systematically evaluated the association of 48 susceptibility loci with T2D risk in Chinese Hans. Because dyslipidemia and hyperglycemia are implicated in the pathogenic process of T2D, we further evaluated whether these 48 single nucleotide polymorphisms (SNPs) were related to fasting plasma glucose (FPG) or lipid levels in Chinese Hans...
May 2018: Diabetes Research and Clinical Practice
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
April 2018: Fetal and Pediatric Pathology
Guoxia Ren, Xu Liu, Zhendong Yu, Jingjie Li, Fanglin Niu, Tianbo Jin, Jikui Liu, Mingwei Chen
In this study, we investigated the association between the polymorphisms of telomerase reverse transcriptase ( TERT ) gene and the risk of chronic hepatitis B (CHB) in a Chinese Han population. Four single nucleotide polymorphisms (SNPs) in TERT (rs10069690, rs2242652, rs2853677 and rs2853676) were genotyped from 224 CHB patients and 300 healthy controls using the Sequenom Mass-ARRAY platform. We used genetic model, haplotype analyses, chi-square test, logistic regression analysis to evaluate the association between SNPs and CHB risk...
February 6, 2018: Oncotarget
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