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Genetic Testing and Molecular Biomarkers

Yu Chen, Jianhui Zeng, Rui Zhang, Linjun Zeng, Yajiao Li, Hong Wei, Qing Yang
AIM: Atrial fibrillation (AF) is the most common cardiac arrhythmia. No data are available on the association between the polymorphisms of interleukin-27 (IL-27) and AF in the Chinese Han population. This study was performed to determine if polymorphisms within the IL-27 gene are involved in the AF susceptibility. METHODS: Two hundred seventy AF patients and 303 healthy individuals were examined for two IL-27 gene polymorphisms (rs153109 and rs17855750) by polymerase chain reaction-restriction fragment length polymorphism methodology...
January 5, 2017: Genetic Testing and Molecular Biomarkers
Guozhong Jiang, Jiangxin Lin, Weiwei Wang, Miaomiao Sun, Kuisheng Chen, Feng Wang
BACKGROUND: Aberrant activation of the canonical WNT or WNT/β-catenin signaling pathway plays a pivotal role in multiple types of cancers. WNT5A, a nontransforming WNT protein suppressing the Wnt/β-catenin signaling pathway, is frequently detected to be hypermethylated in colorectal cancer (CRC). In this study, we investigated the prognostic value of WNT5A methylation in human patients and its potential underlying molecular mechanisms in cultured human CRC cells. METHODS: We measured WNT5A mRNA level using qRT-PCR and DNA methylation using methylation-specific PCR (MSP) in HCT116, HT29, SW620, HCT8, LoVo, SW480, and Rko CRC cells...
January 4, 2017: Genetic Testing and Molecular Biomarkers
Hema L Ramkumar, Harini V Gudiseva, Kameron T Kishaba, John J Suk, Rohan Verma, Keerti Tadimeti, John A Thorson, Radha Ayyagari
AIM: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons in the gene of interest were analyzed along with 20 base pairs of flanking intronic sequence...
December 22, 2016: Genetic Testing and Molecular Biomarkers
Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese, Sabrina Benedetti, Orazio Palumbo, Michelina Rendina, Leonardo D'Agruma, Benedetto Falsini, Xinjing Wang, Matteo Bertelli
AIMS: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and females are usually carriers. The identification of female carriers is always important and poses a technical challenge. Therefore, we sought to develop a multiplex ligation dependent probe amplification (MLPA)-based method to identify deletions or duplications in this gene...
December 20, 2016: Genetic Testing and Molecular Biomarkers
Yu Deng, Xin-Ti Tan, Qiang Wu, Xin Wang
OBJECTIVES: This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population. MATERIALS AND METHODS: Data from 295 IVDD patients (case group) and 324 healthy volunteers (control group) were collected between January 2012 and December 2014...
December 19, 2016: Genetic Testing and Molecular Biomarkers
Jing Zhang, Qing-Hua Min, Yan-Mei Xu, Li-Bing Deng, Wei-Ming Yang, Yan Wang, Shu-Qi Li, Jing Li, Jing Lin, Jing Liu, Bo Huang, Fan Sun, Qiu-Fang Gao, Xin Wen, Xiao-Zhong Wang
OBJECTIVE: Previous studies have investigated the association between tumor necrosis factor-alpha (TNF-α) -308G/A polymorphism and risk of immune thrombocytopenia (ITP), but the reported results have been inconsistent. Thus, a systematic meta-analysis was performed to resolve this discrepancy. METHODS: Electronic databases and the cited references of the obtained published articles were manually searched. Quality assessment of each study was conducted using the Newcastle-Ottawa Scale (NOS)...
December 13, 2016: Genetic Testing and Molecular Biomarkers
Jinhua Wang, Chen Zhang, Stephen G Wu, Chi Shang, Lun Huang, Tong Zhang, Wen Zhang, Yanping Zhang, Lei Zhang
OBJECTIVE: In a recent study single nucleotide polymorphisms (SNPs) in the COL11A1 gene were found to be associated with hip osteoarthritis (OA) among European populations. In this study, our aim was to identify common genetic variants in COL11A1 predisposing to primary hip OA in Han Chinese individuals. METHODS: We designed a case-control study that included 313 hip OA patients and 911 unrelated healthy controls. Fourteen tagging single-nucleotide polymorphisms (SNPs) were genotyped, and single SNP and haplotypic association analyses were performed...
December 12, 2016: Genetic Testing and Molecular Biomarkers
Nan Li, Junfen Ma, Kai Li, Changlong Guo, Liang Ming
OBJECTIVES: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations support genetic contributions to the susceptibility of these diseases. The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T>C in CDKAL1, rs11584383 T>C near KIF21B, and rs11175593 C>T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA...
December 12, 2016: Genetic Testing and Molecular Biomarkers
Marion Muller
No abstract text is available yet for this article.
January 2017: Genetic Testing and Molecular Biomarkers
Khalid Khalaf Alharbi, Rabbani Syed, Fawiziah Khalaf Alharbi, Imran Ali Khan
BACKGROUND: Obesity is known to be a complex disorder caused by both genetic and environmental factors. Patients with obesity tend to develop cardiovascular disease and type 2 diabetes. Previous studies have revealed that obesity is associated with genetic variations including those found in the apolipoprotein E (APOE) gene, which also affects lipid profiles. Hence, in this study, we aimed to perform a molecular characterization of APOE gene polymorphisms found in overweight subjects within a Saudi population...
January 2017: Genetic Testing and Molecular Biomarkers
Zuzana Danková, Lenka Vorobel'ová, Veronika Čerňanová, Darina Drozdová, Marian Grendár, Marian Baldovič, Marta Cvíčelová, Daniela Siváková
OBJECTIVE: This study analyzed the association between the MLXIPL gene polymorphism (rs3812316) and triglyceride (TG) levels and selected environmental biomarkers in Slovak women at risk for cardiovascular disease compared to a reference sample. MATERIALS AND METHODS: The studied sample consisted of 200 women at cardiovascular risk (mean age 52.96 ± 6.01 years) and 244 healthy women (mean age 47.52 ± 5.34 years). Participants gave details of their health and lifestyle during their medical examination, and peripheral blood samples were used for biochemical analyses and DNA genotyping...
January 2017: Genetic Testing and Molecular Biomarkers
Amrita Panja, Prosanto Chowdhury, Sharmistha Chakraborty, Tapan Kumar Ghosh, Anupam Basu
AIMS: Thalassemia is a common autosomal recessive blood disorder, which is most prevalent in South East Asian and Mediterranean populations. It is considered as a major health burden in the Indian population. The aims of the present study were to investigate the common, as well as uncommon, mutations responsible for thalassemia in the Bengali population. METHODS: The Bengali state was divided into four sampling zones. Mutation detection was done using Sanger sequencing of the HBB gene...
January 2017: Genetic Testing and Molecular Biomarkers
Xiangye Huang, Feng Chen, Jing Zhao, Dezhang Wang, Shenfeng Jing, Hongmei Li, Chunyang Meng
AIM: This study assessed the association of single-nucleotide polymorphisms (SNPs) in the proinflammatory cytokines interleukin 6 (IL-6) and IL-10 with the risk of lumbar disc herniation in a Chinese Han population. METHODS: We collected blood samples from 267 patients with lumbar disc herniation (case group) and 300 normals (control group) and performed analyses of the IL-6 572C/G and 174G/C SNPs as well as the IL-10 592A/C and 1082G/A SNPs using TaqMan technology...
January 2017: Genetic Testing and Molecular Biomarkers
Abdolreza Daraei, Yaser Mansoori, Zahra Zendebad, Javad Tavakkoly-Bazzaz, Farzan Madadizadeh, Mohammad Mehdi Naghizadeh, Ali Arghavani, Behnam Mansoori
AIMS: IL-1b-3953 C>T and MMP-9-1562C>T variants have been shown to be linked to the development of myocardial infarction (MI), although previous studies have reported inconsistent results. The aim of the present study was to determine whether these genetic variations are associated with MI susceptibility in an Iranian population. METHODS: In the current study, 117 patients with MI and 120 control group members were selected as participants. Peripheral blood samples were taken from all the subjects for genomic DNA extraction...
January 2017: Genetic Testing and Molecular Biomarkers
Ningwei Che, Guo Zu, Tingting Zhou, Xiaofeng Wang, Yuqiang Sun, Zeshi Tan, Yaoling Liu, Dong Wang, Xiaodong Luo, Ze Zhao, Yue Zhang, Minghai Wei, Jian Yin
BACKGROUND: Epilepsy remains one of the most common clinical neurological disorders. About a third of patients with epilepsy are refractory to drug treatment, mainly as a result of focal cortical dysplasia (FCD). In this study, we analyzed the aberrant expression of microRNAs (miRNAs) in the cortex and plasma of FCD patients. METHODS: Cortical samples were collected from nine patients with refractory epilepsy caused by FCD who underwent surgery, and from eight volunteers (control group) undergoing emergency surgery for hypertensive cerebral hemorrhage...
January 2017: Genetic Testing and Molecular Biomarkers
Di Song, Daobin Cheng
AIMS: Two well-characterized polymorphisms in the tumor necrosis factor (TNF) gene, TNFα-308G/A and TNFα-238G/A, are thought to play important roles in the etiology and pathogenesis of ischemic stroke. Due to ethnic diversity, studies of the associations between these polymorphisms and ischemic stroke are inconclusive. Thus, we conducted a meta-analysis to derive more precise estimates of these associations in East Asians and non-East Asians. MATERIALS AND METHODS: We searched relevant publications in the PubMed, Embase, and Medline databases...
January 2017: Genetic Testing and Molecular Biomarkers
Noel Pabalan, Lani Tabangay, Hamdi Jarjanazi, Luiz Angelo Vieira, Aline Amaro Dos Santos, Caio Parente Barbosa, Luciano Miller Reis Rodrigues, Bianca Bianco
BACKGROUND: Evidence supporting an association of intervertebral disc degeneration (DD) with polymorphisms of the vitamin D receptor (VDR) gene has been controversial. We performed a meta-analysis of these studies to determine if there was substantial evidence to support such an association between the VDR polymorphisms and DD. METHODS: PubMed, Embase, and Science Direct databases were searched for studies that investigated associations of the FokI (rs2228570, rs10735810), and ApaI (rs7975253) polymorphisms of the VDR gene with DD...
January 2017: Genetic Testing and Molecular Biomarkers
Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of consanguineous marriages. MATERIALS AND METHODS: The diagnosis was confirmed by biochemical and genetic tests...
January 2017: Genetic Testing and Molecular Biomarkers
Luis Daniel Campos-Acevedo, Marisol Ibarra-Ramirez, José de Jesús Lugo-Trampe, Michelle de Jesús Zamudio-Osuna, Iris Torres-Muñoz, Ma Del Roble Velasco-Campos, Luz Rojas-Patlan, Irám Pablo Rodríguez-Sánchez, Laura Elia Martínez-de-Villarreal
AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study...
December 2016: Genetic Testing and Molecular Biomarkers
Garth D Ehrlich
No abstract text is available yet for this article.
December 2016: Genetic Testing and Molecular Biomarkers
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