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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/28537809/association-of-three-single-nucleotide-polymorphisms-in-mtr-and-mtrr-genes-with-lung-cancer-in-a-turkish-population
#1
Pinar Aksoy-Sagirli, Ayçin Erdenay, Esra Kaytan-Saglam, Ahmet Kizir
AIMS: Folate metabolism plays a critical role in DNA methylation and synthesis. Polymorphisms in folate metabolism may affect enzyme activities and thereby affect the cancer risk. Methionine synthase (MTR) and methionine synthase reductase (MTRR) are critical enzymes for the folate cycle. In this study, possible associations between genetic variabilities in MTR and MTRR and susceptibility to lung cancer (LC) were investigated in a Turkish population. METHODS: A case-control study with 193 LC cases and 199 noncancerous controls was conducted...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28537769/the-ksr2-rs7973260-polymorphism-is-associated-with-metabolic-phenotypes-but-not-psychological-phenotypes-in-chinese-elders
#2
Yong Wang, Teng Ma, Yin-Sheng Zhu, Xue-Feng Chu, Shun Yao, Hong-Fei Wang, Jian Cai, Xiao-Feng Wang, Xiao-Yan Jiang
OBJECTIVE: To examine the associations between genetic variants KSR2 (kinase suppressor of RAS)-rs7973260, RAPGEF6 (guanine nucleotide exchange factor 6)-rs3756290, LOC105377703-rs4481363, and subjective well-being (SWB) and depressive symptoms (DSs) in Chinese elders, which were recently associated in a genome-wide association study conducted in Caucasians. The pleiotropic effects of KSR2-rs7973260 on metabolic phenotypes were also explored. MATERIALS AND METHODS: We used data of 1788 older individuals aged 70-84 years from the aging arm of the Rugao Longevity and Aging Study, a population-based cohort study conducted in the Jiangsu province of China...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28537755/a-pilot-study-of-noninvasive-prenatal-diagnosis-of-alpha-and-beta-thalassemia-with-target-capture-sequencing-of-cell-free-fetal-dna-in-maternal-blood
#3
Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu
AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28530443/association-of-single-nucleotide-polymorphism-in-the-hepcidin-promoter-gene-with-susceptibility-to-extrapulmonary-tuberculosis
#4
Li Liang, Huijuan Liu, Jun Yue, Li-Rong Liu, Min Han, Liu-Lin Luo, Yan-Lin Zhao, Heping Xiao
BACKGROUND: Hepcidin is a 25-amino acid peptide produced by the liver in response to inflammation and iron overload. It is encoded by the hepcidin antimicrobial peptide (HAMP) gene and plays a key role in innate immunity. Previous studies have reported that a -582 A>G polymorphism in the HAMP promoter (HAMP-P) affects hepcidin expression, causing susceptibility to various bacterial and viral pathogens. However, it is not known whether the HAMP-P -582 A>G polymorphism is associated with tuberculosis (TB) susceptibility...
May 22, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28525297/association-analysis-of-nonsyndromic-congenital-heart-disease-and-tag-single-nucleotide-polymorphisms-of-tbx20-and-genes-in-the-ras-mapk-pathway
#5
Zhiling Luo, Yan Shen, Wei Chen, Xuejuan Ma, Liping Liu, Xiaoqin Huang, Zhaoqing Yang, Hao Sun
AIMS: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD). MATERIALS AND METHODS: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28525288/inference-of-the-genetic-polymorphisms-of-cyp2d6-in-six-subtribes-of-the-malaysian-orang-asli-from-whole-genome-sequencing-data
#6
Choo Yee Yu, Geik Yong Ang, Vinothini Subramaniam, Richard Johari James, Aminuddin Ahmad, Thuhairah Abdul Rahman, Fadzilah Mohd Nor, Syahrul Azlin Shaari, Lay Kek Teh, Mohd Zaki Salleh
AIMS: CYP2D6 is one of the major enzymes in the cytochrome P450 monooxygenase system. It metabolizes ∼25% of prescribed drugs and hence, the genetic diversity of CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study aims to perform a systematic analysis of the CYP2D6 gene in six subtribes of the Malaysian Orang Asli. METHODS: Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28459600/association-of-il-10-1082a-g-polymorphism-with-ischemic-stroke-evidence-from-a-case-control-study-to-an-updated-meta-analysis
#7
Xu Liu, Qu Li, Ruixia Zhu, Zhiyi He
BACKGROUND AND AIMS: Interleukin-10 (IL-10) plays a vital part in the pathophysiology of vascular inflammation. Several studies have investigated the potential association between the IL-10-1082A/G polymorphism and the risk of ischemic stroke where the inflammatory process is involved, but the conclusions have been inconsistent. METHODS: Three hundred eighty-six ischemic stroke patients and 386 healthy controls were recruited in the study. Genotyping was conducted by using the polymerase chain reaction-ligation detection reaction method...
May 1, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28436693/expression-of-circulating-mir-17-92-cluster-and-hdac9-gene-in-atherosclerotic-patients-with-unstable-and-stable-carotid-plaques
#8
Silvia Ferronato, Aldo Mombello, Ilaria Posenato, Paola Candiani, Alberto Scuro, Carlo Setacci, Macarena Gomez-Lira
AIMS: The miR-17-92 cluster and HDAC9 gene are involved in inflammatory, apoptotic, and angiogenic processes that are activated in the vulnerable carotid plaque. The aim of this research was to determine whether expression of one or more of the miRs of the cluster and/or HDAC9 expression could represent biomarkers for patients with unstable atherosclerotic carotid plaques. MATERIALS AND METHODS: Plasma levels of miRs and HDAC9 expression in peripheral blood were analyzed by real-time PCR in patients with histologically classified stable or unstable plaques...
April 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28430524/mirna-related-polymorphisms-in-mir-423-rs6505162-and-pex6-rs1129186-and-risk-of-esophageal-squamous-cell-carcinoma-in-an-iranian-cohort
#9
Ziba Nariman-Saleh-Fam, Milad Bastami, Mohammad Hossein Somi, Farkhondeh Behjati, Yaser Mansoori, Abdolreza Daraei, Zahra Saadatian, Lida Nariman-Saleh-Fam, Habibollah Mahmoodzadeh, Yashar Makhdoumi, Fatemeh Varshoee Tabrizi, Bahador Ebrahimi-Sharif, Azam Hezarian, Shahnaz Naghashi, Mohammad Reza Abbaszadegan, Javad Tavakkoly-Bazzaz
AIMS: Iran is located in the Asian esophageal cancer belt. It is a high-risk region for esophageal squamous cell carcinoma (ESCC). The extent to which genetic components, especially variants within miRNAs or their binding sites, contribute to risk of ESCC in the region is not yet fully understood. Herein, tests were done on an Iranian cohort to evaluate the association of miRNA-related polymorphisms in miR-423 (rs6505162) and peroxisomal biogenesis factor 6 (PEX6) (rs1129186 within a miR-149-5p-binding site) with risk of ESCC risk...
April 21, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28426234/the-otogl-p-arg925-variant-is-associated-with-moderate-hearing-loss-in-a-syrian-nonconsanguineous-family
#10
Rana Barake, Samer Abou-Rizk, Georges Nemer, Marc Bassim
AIMS: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members...
April 20, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#11
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28409662/association-of-endothelial-nitric-oxide-synthase-gene-polymorphism-with-susceptibility-and-nephritis-development-of-henoch-sch%C3%A3-nlein-purpura-in-chinese-han-children
#12
Ailing Wang, Aili Wang, Yanfeng Xiao, Jingjing Wang, Erdi Xu
OBJECTIVE: Henoch-Schönlein purpura (HSP) is the most common form of systemic small-vessel vasculitis in children. Previous studies suggested endothelial nitric oxide synthase (eNOS) plays an important role in the pathogenesis and clinical manifestations of HSP. This study aimed to investigate the potential association between 10 single-nucleotide polymorphisms (SNPs) within eNOS gene and HSP risk and nephritis development in a Chinese Han population. MATERIALS AND METHODS: A case-control study was conducted including 459 healthy children and 423 children with HSP...
April 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28409654/olr1-and-loxin-expression-in-pbmcs-of-women-with-a-history-of-unexplained-recurrent-miscarriage-a-pilot-study
#13
Valentina Bruno, Barbara Rizzacasa, Adalgisa Pietropolli, Maria Vittoria Capogna, Renato Massoud, Carlo Ticconi, Emilio Piccione, Claudio Cortese, Giuseppe Novelli, Francesca Amati
AIMS: The aim of this study was to evaluate the expression of OLR1 and its alternative splicing isoform Loxin in unexplained recurrent miscarriage (uRM). METHODS: Sixty-three women of reproductive age were recruited and were divided into four groups: 18 pregnant and 23 non-pregnant women with uRM, and 12 pregnant and 10 non-pregnant women with physiological pregnancies. Complementary DNA derived from peripheral blood mononuclear cells (PBMCs) was analyzed by quantitative real-time PCR to evaluate the expression of OLR1 and Loxin...
April 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28402684/a-nonsense-alms1-mutation-underlies-alstr%C3%A3-m-syndrome-in-an-extended-mennonite-kindred-settled-in-north-mexico
#14
Marisa Cruz-Aguilar, Carlos Galaviz-Hernández, José Hiebert-Froese, Martha Sosa-Macías, Juan Carlos Zenteno
AIM: Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene encoding a widely expressed centrosomal/basal body protein. Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. Our aim was to describe the molecular characterization of an isolate of AS patients from an extended inbred Mennonite kindred settled in Mexico...
April 12, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28394184/clinical-and-molecular-characterization-of-infantile-onset-pompe-disease-in-mainland-chinese-patients-identification-of-two-common-mutations
#15
Xi Chen, Tingliang Liu, Meirong Huang, Jinjin Wu, Junxue Zhu, Ying Guo, Xinyi Xu, Fen Li, Jian Wang, Lijun Fu
AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1...
April 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28498774/a-new-day-dawns-for-direct-to-consumer-marketing
#16
Claire Mena, Sharon F Terry
No abstract text is available yet for this article.
May 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28410456/use-of-bone-morphogenetic-protein-15-polymorphisms-to-predict-ovarian-stimulation-outcomes-in-infertile-brazilian-women
#17
Carla Peluso, Cecilia Goldman, Viviane Cavalcanti, Guilherme Gastaldo, Camila Martins Trevisan, Denise Maria Christofolini, Caio Parente Barbosa, Bianca Bianco
AIMS: Polymorphisms in the gene encoding bone morphogenetic protein 15 (BMP15) can result in inhibited secretion or lowered bioactivity of the BMP15 protein. BMP15 levels are associated with follicle-stimulating hormone receptor (FSHR) action on granulosa cells, wherein FSHR increases the sensitivity of ovarian follicles to follicle-stimulating hormone (FSH). In this study we evaluated the BMP15 polymorphisms A905 > G/rs3897937, C901 > T/rs17003221, and C-9 > G/rs3810682 in infertile Brazilian women in terms of anti-Mullerian hormone (AMH), FSH, and estradiol serum levels, as well as controlled ovarian hyperstimulation response and assisted reproduction outcomes...
May 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#18
Liping Yang, Xiaobo Gao, Haiyan Luo, Qiuyu Huang, Dongmei Su, Xinyu Tan, Cailing Lu
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear. METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects...
May 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346829/polymorphisms-in-the-glucocorticoid-receptor-gene-and-associations-with-glucocorticoid-induced-avascular-osteonecrosis-of-the-femoral-head
#19
Zhanqin Zhao, Yun Xue, Dun Hong, Hongjun Zhang, Zhigang Hu, Shunwu Fan, Haixiao Chen
AIMS: Individual sensitivity to glucocorticoid (GC) therapy might play a pivotal role in the development of GC-induced avascular necrosis of the femoral head (GANFH). In a growing number of studies, common polymorphisms of the glucocorticoid receptor gene (nuclear receptor subfamily 3 group C member 1 [NR3C1]) have been associated with variability in the individual sensitivity to GCs. However, whether the NR3C1 gene polymorphisms actually influence the susceptibility of GANFH remains unknown...
May 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28287835/single-nucleotide-polymorphisms-in-the-ptpn1-gene-are-associated-with-susceptibility-to-esophageal-squamous-cell-carcinoma-a-case-control-study-in-inner-mongolia-china
#20
Hong-Bo Ji, Le-Le Wang, Xiao-Ying Wang, Sheng-Jie Yin, Di Shang, Li-Li Sun, Lei Wang
OBJECTIVE: This case-control study investigated the association of single nucleotide polymorphisms in the PTPN1 gene with susceptibility to esophageal squamous cell carcinoma (ESCC) in Inner Mongolia, China. METHODS: A total of 302 patients living in Inner Mongolia China who were pathologically diagnosed with ESCC between April 2012 and 2016 were selected for the ESCC group; 373 healthy individuals were selected for the control group. The rs2904268 C>G, rs2230605 A>G, and rs16995309 C>T polymorphisms in the PTPN1 gene were detected by bidirectional polymerase chain reaction amplification of specific alleles...
May 2017: Genetic Testing and Molecular Biomarkers
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