journal
MENU ▼
Read by QxMD icon Read
search

Genetic Testing and Molecular Biomarkers

journal
https://www.readbyqxmd.com/read/28708432/epigenetic-changes-of-the-esr1-gene-in-breast-tissue-of-healthy-women-a-missing-link-with-breast-cancer-risk-factors
#1
Abdolreza Daraei, Pantea Izadi, Ghasemali Khorasani, Nahid Nafissi, Mohammad Mehdi Naghizadeh, Nasim Younosi, Alipasha Meysamie, Yaser Mansoori, Milad Bastami, Javad Tavakkoly-Bazzaz
BACKGROUND: Reproductive history and obesity are among the well-recognized risk factors in the development of breast cancer, which are partially mediated by the increased exposure of breast tissues to estrogens. However, only a few studies have investigated the link between these risk factors and the pattern of methylation signatures in the breast tissue of healthy women. The role of estrogen receptor 1 (ESR1) gene hypermethylation is reportedly important in the development of breast cancer...
July 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28704105/role-of-the-polymorphisms-of-uncoupling-protein-genes-in-childhood-obesity-and-their-association-with-obesity-related-disturbances
#2
Ali Gul, Ömer Ateş, Samet Özer, Tuba Kasap, Emel Ensari, Osman Demir, Ergün Sönmezgöz
BACKGROUND: Obesity, one of the most common disorders observed in clinical practice, has been associated with energy metabolism-related protein genes such as uncoupling proteins (UCPs). Herein, we evaluated UCPs as candidate genes for obesity and its morbidities. METHODS: A total of 268 obese and 185 nonobese children and adolescents were enrolled in this study. To determine dyslipidemia, hypertension, and insulin resistance, laboratory tests were derived from fasting blood samples...
July 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28696792/direct-to-consumer-genetic-testing-and-orphan-drug-development
#3
Matthew Mason, James Levenson, John Quillin
Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing...
July 11, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28686058/genetic-associations-and-interactions-between-the-nr3c1-gr-and-nr3c2-mr-genes-and-aggressive-behavior-in-a-central-south-chinese-han-population
#4
Jianming Li, Liang Tang, Yan Wang, Fang Li, Meihua Bao, Ju Xiang, Deliang Lei, Beisha Tang
AIMS: The glucocorticoid receptor (GR) and mineralocorticoid receptor (MR) play important roles in hypothalamic-pituitary-adrenal axis and stress regulation. The current study aimed to address the genetic association and gene-gene interactions between GR and MR gene polymorphisms and aggressive behavior. METHODS: A haplotype-based, case-control study was designed to examine the association between human MR and GR genes and aggressive behaviors, including robbery and intentional interpersonal injury, in a central south Chinese Han population...
July 7, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28665696/association-analysis-of-single-nucleotide-polymorphisms-in-c1qtnf6-rac2-and-an-intergenic-region-at-14q32-2-with-graves-disease-in-chinese-han-population
#5
Xiao-Hong Zhang, Min Shen, Lin Liu, Fa-Mei Li, Peng-Chen Hu, Qi Hua, Jing Zhang, Li-Nan Pang, Hong-Wen Lu, Zhi-Min Wang, Xun Chu, Wei Huang
BACKGROUND: Variation within C1QTNF6 at 22q12.3, RAC2 at 22q13.1, and an intergenic region at 14q32.2 was found in association with risk to Graves' disease (GD) in a recent study. We aimed to validate these associations with GD in an independent sample set of Han Chinese population. METHODS: We investigated these associations by genotyping three most significantly associated single nucleotide polymorphisms (SNPs) located in these three regions. Rs1456988 within the intergenic region at 14q32...
June 30, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650671/association-of-ccr2-190-g-a-gene-variants-and-ovarian-cancer-severity
#6
Gazi Yildirim, Rukset Attar, Seda Gulec-Yilmaz, Selvi Duman, Turgay Isbir
AIM: Chemokines and their receptors play an important role in tumor progression. In the current study, we aimed to determine the association between the CCR2 gene (+190 G/A) polymorphism and ovarian cancer severity. METHODS: CCR2 (+190 G/A) genotyping was performed using real-time polymerase chain reaction for DNA isolated from blood samples from a cohort of patients with ovarian cancer (n = 44) and a control group (n = 45). RESULTS: The CCR2 (+190 G/A) GG genotype frequencies for patients were significantly higher in the stage III-IV cancer group (p = 0...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650670/the-sdf1-a-g-gene-variant-a-susceptibility-variant-for-myocardial-infarction
#7
Yaser Mansoori, Abdolreza Daraei, Zahra Zendebad, Farzan Madadizadeh, Behnam Mansoori, Mohammad Mehdi Naghizadeh, Farzaneh Darbeheshti
BACKGROUND: Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an Iranian population. METHODS: A total of 120 patients with MI and 120 healthy controls were enrolled. Blood samples were collected from all the participants for genomic DNA extraction and testing...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28609193/dna-methylome-profiling-on-the-infinium-humanmethylation450-array-from-limiting-quantities-of-genomic-dna-from-a-single-small-archived-bloodspot
#8
Kripa Asrani, Gary M Shaw, Jasper Rine, Nicholas J Marini
AIMS: Archived newborn bloodspots are valuable sample collections for genetic and epigenetic disease research. However, they have often been stored for long periods of time, under less than ideal circumstances, and nucleic acid yields can be low, particularly when samples become limiting. We wished to determine whether the quantity and quality of genomic DNA (gDNA) isolated from a single, surgical bloodspot punch (2 mm dia.) were adequate for accurate and reliable DNA methylome profiling on the Illumina HumanMethylation450 array...
June 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28715288/an-evidence-framework-for-genetic-testing
#9
Sharon F Terry
No abstract text is available yet for this article.
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650667/gender-specific-association-between-fgfr4-gly388arg-gene-variants-and-hypertension
#10
Nasser M Al-Daghri, Abdul Khader Mohammed, Omar S Al-Attas, Hossam M Draz, Majed S Alokail
AIMS: Variations in fibroblast growth factor (FGF) levels have been associated with alterations in blood pressure. FGFs mediate their function through binding to their FGF receptor (FGFR). The FGFR4 Gly388Arg polymorphism is associated with cancer and cardiovascular diseases, but its association with hypertension is unclear. Here, we aimed to investigate the association between the FGFR4 Gly388Arg polymorphism and hypertension. MATERIALS AND METHODS: Three hundred Saudi individuals (150 normotensive controls and 150 hypertensive subjects) were genotyped for the FGFR4 Gly388Arg (G/A) polymorphism using polymerase chain reaction-restriction fragment length polymorphism method...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28590779/oculopharyngeal-muscular-dystrophy-and-inherited-retinal-dystrophy-in-bukhara-jews-due-to-linked-mutations-in-the-pabpn1-and-nrl-genes
#11
Itzhak Braverman, Sergiu C Blumen, Hadas Newman, Leah Rizel, Morad Khayat, Rana Hanna, Jean Lacau St Guily, Beatrice Tiosano, Tamar Ben-Yosef
AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD)...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28537809/association-of-three-single-nucleotide-polymorphisms-in-mtr-and-mtrr-genes-with-lung-cancer-in-a-turkish-population
#12
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...
July 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
#13
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 of 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 from 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...
July 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
#14
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...
July 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
#15
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...
July 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
#16
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 a CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study was designed 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...
July 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
#17
Rana Barake, Samer Abou-Rizk, Georges Nemer, Marc Bassim
AIM: 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...
July 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
#18
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...
June 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
#19
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...
June 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
#20
Silvia Ferronato, Aldo Mombello, Ilaria Posenato, Paola Candiani, Alberto Scuro, Carlo Setacci, Macarena Gomez-Lira
AIMS: The miR-17-92 cluster and the 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 miR-17-92 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...
June 2017: Genetic Testing and Molecular Biomarkers
journal
journal
42244
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"