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Vishnubhotla Venkata Ravikanth, Guduru Venkat Rao, Bale Govardhan, Mitnala Sasikala, Chivukula Subramanyam, H V Vivekananda Murthy, Siddapuram Siva Prasad, G Deepika, Rebala Pradeep, Duvvuru Nageshwar Reddy
BACKGROUND/OBJECTIVES: Pigmentous gallstones occur in South Indians despite significant higher levels of circulating cholesterol. This study was conducted to identify the biochemical and/or genetic causes for the formation of pigmentous gallstones in this ethnic group. METHODS: Plasma lipid profile, bile cholesterol, acids, and phospholipid levels were estimated in patients with gall stone disease and age, sex matched controls using standard protocols. Twenty-seven SNPs related to cholesterol and bilirubin metabolism pathway genes were genotyped in the study population using the Sequenom platform...
September 2016: Journal of Clinical and Experimental Hepatology
Cuiyan Wu, Yan Wen, Xiong Guo, Tielin Yang, Hui Shen, Xiangding Chen, Qing Tian, Lijun Tan, Hong-Wen Deng, Feng Zhang
OBJECTIVE: Recent study observed defective autophagy in chondrocytes with Kashin-Beck Disease (KBD). To clarify the potential role of autophagy-related ATG4C gene in the development of KBD, we conducted an integrative analysis of genetic association, mRNA and protein expression of ATG4C in KBD patients. METHODS: 1,026 subjects (559 KBD patients and 467 healthy cases) were enrolled in discovery association study. 4 SNPs of ATG4C gene (rs11208030, rs4409690, rs12097658 and rs6587988) were genotyped by Sequenom MassARRAY platform...
October 11, 2016: Osteoarthritis and Cartilage
Kyuichi Kadota, Camelia S Sima, Maria E Arcila, Cyrus Hedvat, Mark G Kris, David R Jones, Prasad S Adusumilli, William D Travis
The potential clinical impact of KRAS and epidermal growth factor receptor (EGFR) mutations has been investigated in lung adenocarcinomas; however, their prognostic value remains controversial. In our study, we sought to investigate the prognostic significance of driver mutations using a large cohort of early-stage lung adenocarcinomas. We reviewed patients with pathologic early-stage, lymph node-negative, solitary lung adenocarcinoma who had undergone surgical resection (1995 to 2005; stage I/II=463/19). Tumors were classified according to the IASLC/ATS/ERS classification and genotyped by Sequenom MassARRAY system and polymerase chain reaction-based assays...
October 12, 2016: American Journal of Surgical Pathology
Ting Chen, Juan Xu, Guangquan Liu, Heng Liu, Minjian Chen, Yufeng Qin, Wei Wu, Yankai Xia, Chenbo Ji, Xirong Guo, Juan Wen, Xinru Wang
Genome-wide association studies (GWASs) showed that two single nucleotide polymorphisms (SNPs) (rs17584499 and rs649891) in the protein tyrosine phosphatase receptor type D (PTPRD) were associated with type 2 diabetes (T2D). We sought to determine the influence of the PTPRD variants on the gestational diabetes mellitus (GDM) risk. In this research, two SNPs in PTPRD reported in T2D GWASs and six PTPRD expression-related SNPs were genotyped in 964 GDM cases and 1,021 controls using the Sequenom platform. Logistic regression analyses in additive models showed consistently significant associations of PTPRD rs10511544 A>C, rs10756026 T>A and rs10809070 C>G with a decreased risk of GDM [adjusted OR (95% CI) = 0...
October 12, 2016: Oncotarget
Weili Min, Xinghan Liu, Ye Lu, Zhuoqing Gong, Meng Wang, Shuai Lin, Huafeng Kang, Tianbo Jin, Xijing Wang, Xiaobin Ma, Kang Liu, Cong Dai, Yi Zheng, Shanli Li, Qingyong Ma, Zhijun Dai
Genetic variations in transcription factor 7-like 2 (TCF7L2) are associated with cancer risk. This study was conducted to establish the relationship between TCF7L2 polymorphisms (rs1225404, rs7003146, and rs7903146) and clinical features and risk of breast cancer in northwest Chinese Han women. In this study, three polymorphisms of TCF7L2 (rs1225404, rs7003146, and rs7903146) were genotyped in 458 patients with breast cancer and 500 healthy controls using the Sequenom MassARRAY-iPLEX system. We evaluated the associations between the polymorphisms and breast cancer using odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs)...
October 12, 2016: Oncotarget
Timothy L Frankel, Efsevia Vakiani, Hari Nathan, Ronald P DeMatteo, T Peter Kingham, Peter J Allen, William R Jarnagin, Nancy E Kemeny, David B Solit, Michael I D'Angelica
BACKGROUND: In the past 3 decades, a better understanding of gene mutations and their role in carcinogenesis has led to improvement in our ability to treat patients with metastatic disease. The objective of the current study was to determine whether the location of a driver mutation within an affected gene impacts the biology of metastatic colorectal cancer. METHODS: DNA was collected from 165 randomly selected specimens of patients who underwent margin-negative resection of colorectal liver metastases with curative intent...
October 13, 2016: Cancer
Hou-Qun Ying, Hong-Xin Peng, Bang-Shun He, Yu-Qin Pan, Feng Wang, Hui-Ling Sun, Xian Liu, Jie Chen, Kang Lin, Shu-Kui Wang
Genetic variation within microRNA (miRNA) may result in its abnormal folding or aberrant expression, contributing to colorectal turmorigenesis and metastasis. However, the association of six polymorphisms (miR-608 rs4919510, miR-499a rs3746444, miR-146a rs2910164, pre-miR-143 rs41291957, pre-miR-124-1 rs531564 and pre-miR-26a-1 rs7372209) with colorectal cancer (CRC) risk, therapeutic response and survival remains unclear. A retrospective study was carried out to investigate the association in 1358 0-III stage resected CRC patients and 1079 healthy controls using Sequenom's MassARRAY platform...
October 4, 2016: Oncotarget
J Jian, C Li, J Xu, D Qiao, G Mi, X Chen, M Tang
Single nucleotide polymorphisms (SNPs) in HTR3A and HTR3B have been reported to be associated with bipolar disorder in European and Japanese populations. We explored the roles of 21 tag SNPs in HTR3A and HTR3B in susceptibility to bipolar disorder in a Chinese cohort. Twenty-one Tag SNPs were genotyped in a study consisting of 130 patients with bipolar disorder, who visited Shandong Mental Health Center between June 2013 and May 2014, and 109 healthy individuals as controls. All of the tag SNPs were genotyped using Sequenom MassArray matrix-assisted laser desorption/ionization time of flight spectrometry...
September 16, 2016: Genetics and Molecular Research: GMR
Zhiqiang Qin, Xiao Li, Jingyuan Tang, Xuping Jiang, Yajie Yu, Chengming Wang, Weizhang Xu, Yibo Hua, Bin Yu, Wei Zhang
BACKGROUND: Some previous studies have investigated the relationship between insulin-like growth factor-binding protein-3 polymorphism and prostate cancer (PCa) susceptibility; however, the findings from those studies remain inconsistent. Hence, the aim of this meta-analysis was to provide a more reliable conclusion about such associations. METHODS: A meta-analysis based on twelve studies was conducted, and 8,341 PCa cases and 7,734 controls were included in this analysis...
2016: OncoTargets and Therapy
Xue Qin, Juanjuan Xu, Ziyan Wu, Fei Sun, Hua Chen, Wenjie Zheng, Shan Li, Ping Li, Si Chen, Ming Shen, Wen Zhang, Xin You, Qingjun Wu, Fengchun Zhang, Yong Zhe Li
OBJECTIVES: Two genome-wide association studies (GWAS) have identified the IL-23 receptor- IL-12 receptor β2 (IL23R-IL12RB2) as the susceptibility genetic region in Turkish and Japanese population with Behçet's disease (BD). We investigated the association of this region with BD in a Northern Chinese Han population. METHODS: A total of 407 patients with BD and 421 healthy controls were genotyped for single nucleotide polymorphisms (SNPs) rs924080 and rs11209032 using the Sequenom MassArray system...
September 19, 2016: Human Immunology
Liting Zhou, Dongchun Zheng, Shuyue Wang, Jian Zhu, Yiyang Jia, Di Sun, Jin Xu, Qi Wang, Huaiji Chen, Feng Xu, Bo Li, Lin Ye
PURPOSE: Toll-like receptor 4 (TLR4) is known to be involved in innate immunity and inflammatory responses that play important roles in the pathogenesis of coronary artery disease (CAD). But the relationship between TLR4 gene and CAD has yet to be investigated. The present study aimed to evaluate the association of TLR4 gene polymorphisms with CAD susceptibility in a Chinese Han population. METHODS: A total of 1094 subjects (577 unrelated patients with CAD and 517 controls) were recruited between 2008 and 2012...
2016: SpringerPlus
Apurva Srivastava, Balraj Mittal, Jai Prakash, Pranjal Srivastava, Nimisha Srivastava, Neena Srivastava
OBJECTIVES: The aim of the study was to investigate the association of 55 SNPs in 28 genes with obesity risk in a North Indian population using a multianalytical approach. METHODS: Overall, 480 subjects from the North Indian population were studied using strict inclusion/exclusion criteria. SNP Genotyping was carried out by Sequenom Mass ARRAY platform (Sequenom, San Diego, CA) and validated Taqman(®) allelic discrimination (Applied Biosystems(®) ). Statistical analyses were performed using SPSS software version 19...
September 21, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
Tianbo Jin, Hongxing Zhang, Qi Yang, Lei Li, Yongri Ouyang, Min Yang, Fengjiao Wang, Zhenyuan Wang, Ji Zhang, Dongya Yuan
BACKGROUND: The number of heroin addicts is increasing in the world. The environmental and genetic factors both play critical roles in the process of heroin addiction. We sought to investigate the associations between single nucleotide polymorphisms (SNPs) in LIN7C, BDNFOS and BDNF genes and drug addiction in the Han Chinese population. METHODS: We conducted a case-control study among 692 cases and 700 healthy controls from Xi'an, China. Eight SNPs were selected and genotyped using Sequenom Mass-ARRAY technology...
September 19, 2016: Journal of Gene Medicine
Luyao Chen, Zhengwei Lei, Xin Ma, Qingbo Huang, Xu Zhang, Yong Zhang, Peng Hao, Minggang Yang, Xuetao Zhao, Jun Chen, Gongxue Liu, Tao Zheng
Fibroblast growth factor receptor 4 (FGFR4) is a transmembrane receptor with ligand-induced tyrosine kinase activity and is involved in various biological and pathological processes. Several polymorphisms of FGFR4 are associated with the incidence and mortality of numerous cancers, including prostate cancer. In this study, we investigated whether the polymorphisms of FGFR4 influence the biochemical recurrence of prostate cancer in Chinese men after radical prostatectomy. Three common polymorphisms (rs1966265, rs2011077, and rs351855) of FGFR4 were genotyped from 346 patients with prostate cancer by using the Sequenom MassARRAY system...
2016: Scientific Reports
Aiwu Shi, Juan Wen, Guangquan Liu, Heng Liu, Ziyi Fu, Jing Zhou, Yao Zhu, Yaoqiu Liu, Xirong Guo, Jianguo Xu
Vitamin D (VD) deficiency during pregnancy has been repeatedly linked to an increased gestational diabetes mellitus (GDM) risk. We sought to determine the influences of genetic variants in vitamin D signaling pathways on the risk of GDM. In this study, we genotyped 15 single nucleotide polymorphisms (SNPs) within 8 representative genes (CYP27A1, CYP27B1, CYP24A1, VDR, RXRA, RXRB, RXRG and GC) of the vitamin D signaling pathways in a case-control study with 964 GDM cases and 1,021 controls using the Sequenom MassARRAY iPLEX platform...
September 12, 2016: Oncotarget
Carina Pereira, Sara Queirós, Ana Galaghar, Hugo Sousa, Ricardo Marcos-Pinto, Pedro Pimentel-Nunes, Catarina Brandão, Rui Medeiros, Mário Dinis-Ribeiro
OBJECTIVES: Deregulation of prostaglandin E2 (PGE2) levels reported in colorectal carcinogenesis contributes to key steps of cancer development. Our aim was to evaluate the influence of the genetic variability in COX-2/HPGD/SLCO2A1/ABCC4 PGE2 pathway genes on the development and recurrence of colorectal adenomas. METHODS: A case-control study was conducted gathering 480 unscreened individuals and 195 patients with personal history of adenomas. A total of 43 tagSNPs were characterized using the Sequenom platform or real-time PCR...
2016: Clinical and Translational Gastroenterology
Juan Miguel Cejalvo, J Alejandro Pérez-Fidalgo, Gloria Ribas, Octavio Burgués, Cristina Mongort, Elisa Alonso, Maider Ibarrola-Villava, Begoña Bermejo, María Teresa Martínez, Andrés Cervantes, Ana Lluch
BACKGROUND: There is increasing interest in the molecular profiling of tumour tissues in order to investigate alternative breast cancer (BC) therapies. However, the impact of genomic screening for druggable mutations with targeted gene panel sequencing (TGPS) in routine practice remains controversial. METHODS: This is a retrospective analysis of data from a genomic screening programme at our institution, in which we performed simplified TGPS for mutations in PIK3CA, AKT1, KRAS, NRAS, and BRAF in order to select patients for targeted therapy clinical trials...
November 2016: Breast Cancer Research and Treatment
Zi-Kai Song, Hong-Yan Cao, Hai-Di Wu, Li-Ting Zhou, Ling Qin
BACKGROUND: Mutations in the solute carrier family 22 member 3 (SLC22A3), lipoprotein (a)-like 2 (LPAL2), and the lipoprotein (a) (LPA) gene cluster, which encodes apolipoprotein (a) [apo (a)] of the lipoprotein (a) [Lp (a)] lipoprotein particle, have been suggested to contribute to the risk of coronary artery disease (CAD), but the precise variants of this gene cluster have not yet been identified in Chinese populations. OBJECTIVES: We sought to investigate the association between SLC22A3-LPAL2-LPA gene cluster polymorphisms and the risk of CAD in the Han Chinese population...
June 2016: Iranian Red Crescent Medical Journal
Zhiping Deng, Hua Yang, Qiufang Liu, Zhouquan Wang, Tian Feng, Yongri Ouyang, Tianbo Jin, Hong Ren
Genome-wide association studies (GWAS) have identified common variants associated with breast cancer (BC) risk at multiple genetic loci. Above all, accumulated evidence suggests that inherited risk variants may vary in BC subtypes defined by estrogen receptor (ER) or progesterone receptor (PR) status. However, the underlying susceptibility of some variants for BC subtypes has not been well investigated in the Chinese population. Our objective was to explore the association among 23 GWAS-identified single-nucleotide polymorphisms (SNPs) and overall BC incidence, as well as its subtypes, in Chinese women...
September 8, 2016: Journal of Human Genetics
Boris Novakovic, Christine E Napier, Regan Vryer, Eva Dimitriadis, Ursula Manuelpillai, Andrew Sharkey, Jeffrey M Craig, Roger R Reddel, Richard Saffery
STUDY QUESTION: What factors regulate elongated telomere length in the human placenta? SUMMARY ANSWER: Hypomethylation of TERRA promoters in the human placenta is associated with high expression TERRA genes, however, no clear mechanistic link between these phenomena and elongated telomere length in the human placenta was found. WHAT IS KNOWN ALREADY: Human placenta tissue and trophoblasts show longer telomere lengths compared to gestational age-matched somatic cells...
September 7, 2016: Molecular Human Reproduction
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