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Genetic Testing and Molecular Biomarkers

Zuzana Danková, Lenka Vorobeľová, 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...
November 17, 2016: 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...
November 9, 2016: 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...
November 9, 2016: 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...
November 8, 2016: 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...
November 8, 2016: Genetic Testing and Molecular Biomarkers
Hongjuan He, Lei Lei, Erfei Chen, Jing Dong, Kejin Zhang, Jin Yang
AIM: To explore the association of the APOA5 gene c.553G>T polymorphism with hypertriglyceridemia (HTG) susceptibility and altered triglyceride levels. METHODS: We searched the PubMed, Google Scholar, and CNKI databases for published studies relating to analyses of these associations. Case-control and comparative studies of the association between the APOA5 c.553G>T variant and altered triglyceride levels were included. In total, the meta-analysis involved 10 studies on HTG, which provided 2219 cases and 3401 controls...
November 4, 2016: 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...
November 3, 2016: 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 perform 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...
October 31, 2016: 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...
October 31, 2016: Genetic Testing and Molecular Biomarkers
Liang Guo, Liqiang Zheng, Xiaofan Guo, Ye Chang, Xinghu Zhou, Yingxian Sun
BACKGROUND: Complement component 5 (C5) has been described to play an important role in the development and progression of atherosclerosis and cardiovascular disease. Our aim was to determine whether genetic variation of C5 was associated with ischemic stroke (IS) in northeast Chinese population. METHODS: We used a case-control study involving 386 IS patients and 386 non-IS controls from a rural population and determined the genotypes of five polymorphisms (rs12237774, rs17611, rs4837805, rs7026551, and rs1017119) of C5 gene by Snapshot single-nucleotide polymorphism genotyping assays to assess any links with IS...
October 21, 2016: Genetic Testing and Molecular Biomarkers
Guozhong Jiang, Chenglin Luo, Miaomiao Sun, Zhihua Zhao, Wencai Li, Kuisheng Chen, Tianli Fan
AIM: Increased DNA methylation within the promoter regions of tumor suppressor genes has been associated with gene silencing in various cancers. CDX2, a caudal-related homeobox transcription factor, represents a key tumor suppressor in colorectal cancer. However, the pathological role of its promoter methylation has not yet been well defined in colorectal cancer. METHODS: We measured CDX2 promoter methylation by methylation-specific PCR (MSP) and CDX2 mRNA levels by real-time quantitative reverse transcription-PCR in both tumor and normal control tissues collected from 108 colorectal cancer patients and then performed correlation analyses...
October 18, 2016: Genetic Testing and Molecular Biomarkers
Michael P Palmer, Rachael Melton-Kreft, Laura Nistico, N Louisa Hiller, Leon H J Kim, Gregory T Altman, Daniel T Altman, Nicholas G Sotereanos, Fen Z Hu, Patrick J De Meo, Garth D Ehrlich
BACKGROUND: Preliminary studies have identified known bacterial pathogens in the knees of patients with osteoarthritis (OA) before arthroplasty. AIMS: The current study was designed to determine the incidence and types of bacteria present in the synovial fluid of native knee joints from adult patients with diagnoses of septic arthritis and OA. PATIENTS AND METHODS: Patients were enrolled between October 2010 and January 2013. Synovial fluid samples from the affected knee were collected and evaluated with both traditional microbial culture and polymerase chain reaction-electrospray ionization-time-of-flight mass spectrometry (molecular diagnostics [MDx]) to prospectively characterize the microbial content...
October 17, 2016: Genetic Testing and Molecular Biomarkers
Monica Marabelli, Valeria Molinaro, Raefa Abou Khouzam, Enrico Berrino, Mara Panero, Antonella Balsamo, Tiziana Venesio, Guglielmina Nadia Ranzani
AIMS: Colorectal adenomatous polyposis entailing cancer predisposition is caused by constitutional mutations in different genes. APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP). METHODS: We screened for mutations in patients with multiple adenomas/FAP: 121 patients were analyzed for APC and MUTYH mutations, and 36 patients were also evaluated for POLE and POLD1 gene mutations...
October 5, 2016: Genetic Testing and Molecular Biomarkers
Shou-Chu Chou, How-Wen Ko, Ying-Chin Lin
OBJECTIVE: To explore the associations of single-nucleotide polymorphisms (SNPs) of the C-reactive protein (CRP), interleukin 6 (IL-6) and IL-10 genes with susceptibility and severity of community-acquired pneumonia (CAP). MATERIALS AND METHODS: Two hundred seventy-nine CAP patients were selected for the case group and 156 healthy individuals for the control group. Polymerase chain reaction-restriction fragment length polymorphism was performed for genotyping of CRP +1059G/C (rs1800947) and +1846C/T (rs1205), IL-6 -597G/A (rs1800797) and -572C/G (rs1800796), and IL-10 -592C/A (rs1800872) and -1082G/A (rs1800896)...
October 5, 2016: Genetic Testing and Molecular Biomarkers
Dale Wright, Louise Carey, Siobhan Battersby, Thuy Nguyen, Melanie Clarke, Benjamin Nash, Elee Gulesserian, Jill Cross, Artur Darmanian
AIM: Validation of a chromosomal microarray for improved prenatal diagnosis for chromosomal abnormalities among high-risk pregnancies. METHODS: A cohort of 213 pregnancies was investigated by chromosomal microarray and the results were compared with quantitative fluorescent polymerase chain reaction (QF-PCR), karyotype, and 850K single-nucleotide polymorphism microarray results. The detection limit of mosaicism was determined by assaying different trisomy mosaic constructs down to ∼12%...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Oscar Swift, Enric Vilar, Belinda Rahman, Lucy Side, Daniel P Gale
AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Wafa Omer, Abdul K Naveed, Omer J Khan, Dilshad A Khan
AIMS: Pro- and anti-inflammatory cytokines play a significant role in early atherosclerosis. Linkage disequilibrium patterns differ between ethnic groups pointing toward the need to develop population-specific gene risk scores. Our objective was to investigate the role of a cytokine gene score in the risk prediction of premature coronary artery disease (PCAD). METHODS: A case-control study was performed at the National University of Sciences and Technology (NUST) in collaboration with the Cardiovascular Genetics Institute, University College London, United Kingdom...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Gui-Long Wang, Yu-Bo Wu, Jia-Tian Liu, Cui-Yun Li
OBJECTIVE: We aimed to investigate the effects of microRNA-98 (miR-98) on apoptosis in cartilage cells in osteoarthritis (OA) patients. METHODS: Knee cartilage tissue samples were collected from 31 OA patients, 21 autopsies, and 26 amputation patients due to trauma. The clinicopathological data were recorded. Quantitative real-time polymerase chain reaction was performed to compare the miR-98 expression levels from cartilage cells obtained from the OA and non-OA patients...
September 27, 2016: Genetic Testing and Molecular Biomarkers
Jorge Alejandro Alegría-Torres, Marion Velázquez-Villafaña, Juan Manuel López-Gutiérrez, Marcela M Chagoyán-Martínez, Diana O Rocha-Amador, Rogelio Costilla-Salazar, Lizeth García-Torres
AIM: The purpose of this study was to determine the correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS: Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS: A positive association was found between TL and mtDNAcn after a natural log transformation (Pearson correlation r = 0.72; p < 0.0001). No correlation between age and body mass index (BMI) biomarkers was found, and no differences according to sex were observed...
September 13, 2016: Genetic Testing and Molecular Biomarkers
Altaf A Kondkar, Ahmed Mousa, Taif A Azad, Tahira Sultan, Faisal A Almobarak, Abdullah Alawad, Saleh Altuwaijri, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: To investigate the association between the rs1900004 polymorphism in the atonal bHLH transcription factor 7 (ATOH7) gene and primary open angle glaucoma (POAG) in Saudi patients. METHODS: Eighty-seven unrelated POAG cases and 94 unrelated control subjects of Saudi origin were genotyped utilizing a TaqMan(®) assay. The association between mutant genotypes and POAG and its related clinical indices was investigated. RESULTS: The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with POAG compared to controls...
September 12, 2016: Genetic Testing and Molecular Biomarkers
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