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https://www.readbyqxmd.com/read/28108744/increased-breast-cancer-risk-with-habp1-p32-gc1qr-genetic-polymorphism-rs2285747-and-its-upregulation-in-northern-chinese-women
#1
Yongdong Jiang, Hao Wu, Jing Liu, Yanbo Chen, Jingjing Xie, Yashuang Zhao, Da Pang
OBJECT: Hyaluronic acid binding protein 1 (HABP1/p32/gC1qR) is overexpressed in breast cancer. However, it is unknown whether HABP1 gene polymorphisms affect breast cancer risk. This study aims to evaluate the potential association of single nucleotide polymorphisms (SNPs) of HABP1 with breast cancer in northern Chinese women. RESULTS: The minor allele of rs2285747 was strongly associated with breast cancer with OR of 1.553 (95% CI = 1.251-1.927). SNP rs2285747 was also associated with high HABP1 protein expression under the co-dominant and dominant model (p = 0...
January 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108469/blood-rna-biomarkers-in-prodromal-park4-and-rem-sleep-behavior-disorder-show-role-of-complexin-1-loss-for-risk-of-parkinson-s-disease
#2
Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Jorge Antolio Domínguez-Bautista, Nadine Brehm, Hülya Tireli, Karl Hackmann, Caroline Pirkevi, Barbara Leube, Vincent Ries, Kerstin Reim, Nils Brose, Wilfred F den Dunnen, Madrid Johnson, Zsuzsanna Wolf, Marc Schindewolf, Wiebke Schrempf, Kathrin Reetz, Peter Young, David Vadasz, Achilleas S Frangakis, Evelin Schröck, Helmuth Steinmetz, Marina Jendrach, Udo Rüb, Ayşe Nazlı Başak, Wolfgang Oertel, Georg Auburger
Parkinson's disease (PD) is a frequent neurodegenerative process at old age. Accumulation and aggregation of the lipid-binding SNARE complex component alpha-synuclein (SNCA) underlies this vulnerability and defines stages of disease progression. Determinants of SNCA levels and mechanisms of SNCA neurotoxicity are intensely investigated. In view of physiological SNCA roles in blood to modulate vesicle release, we studied blood samples from a new large pedigree with SNCA gene duplication (PARK4 mutation), to identify effects of SNCA gain-of-function as potential disease biomarkers...
January 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28108127/g-enome-wide-association-study-in-takotsubo-syndrome-preliminary-results-and-future-directions
#3
Ingo Eitel, Christian Moeller, Matthias Munz, Thomas Stiermaier, Thomas Meitinger, Holger Thiele, Jeanette Erdmann
BACKGROUND: Takotsubo syndrome (TS) is an acute non-ischemic cardiomyopathy characterized by transient regional systolic dysfunction of the left and/or right ventricle with still unknown etiology. The aim of the current study was to conduct for the first time a genome-wide association study (GWAS) in a cohort of TS patients to identify potential genetic risk variants. METHODS: This single-center study was conducted at the University Heart Center Lübeck from 2008 to 2016...
January 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28107441/fine-mapping-and-candidate-gene-analysis-of-the-tiller-suppression-gene-ts1-in-rice
#4
Lei Liu, Fen Meng, Yonggang He, Menghao Zhu, Yanhao Shen, Zhihong Zhang
Tiller number is one of the key factors that influences rice plant type and yield components. In this study, an EMS-induced rice tiller suppression mutant ts1 was characterized. Morphological and histological observations revealed that, in the ts1 plants, the tiller buds were abnormally formed and therefore cannot outgrow into tillers. With an F2 population derived from a cross between ts1 and an indica cultivar Wushansimiao, a major gene, tiller suppression 1 (ts1) was fine-mapped to a 108.5 kb genomic region between markers ID8378 and SSR6884 on the short arm of rice chromosome 2...
2017: PloS One
https://www.readbyqxmd.com/read/28107433/investigation-of-cross-contamination-and-misidentification-of-278-widely-used-tumor-cell-lines
#5
Yaqing Huang, Yuehong Liu, Congyi Zheng, Chao Shen
In recent years, biological research involving human cell lines has been rapidly developing in China. However, some of the cell lines are not authenticated before use. Therefore, misidentified and/or cross-contaminated cell lines are unfortunately commonplace. In this study, we present a comprehensive investigation of cross-contamination and misidentification for a panel of 278 cell lines from 28 institutes in China by using short tandem repeat profiling method. By comparing the DNA profiles with the cell bank databases of ATCC and DSMZ, a total of 46...
2017: PloS One
https://www.readbyqxmd.com/read/28107384/an-approach-to-elucidate-nbs1-function-in-dna-repair-using-frequent-nonsynonymous-polymorphism-in-wild-medaka-oryzias-latipes-populations
#6
Kento Igarashi, Junya Kobayashi, Takafumi Katsumura, Yusuke Urushihara, Kyohei Hida, Tomomi Watanabe-Asaka, Hiroki Oota, Shoji Oda, Hiroshi Mitani
Nbs1 is one of the genes responsible for Nijmegen breakage syndrome, which is marked with high radiosensitivity. In human NBS1 (hNBS1), Q185E polymorphism is known as the factor to cancer risks, although its DSB repair defect has not been addressed. Here we investigated the genetic variations in medaka (Oryzias latipes) wild populations, and found 40 nonsynonymous single nucleotide polymorphisms (SNPs) in medaka nbs1 (olnbs1) gene within 5 inbred strains. A mutation to histidine in Q170 residue in olNbs1, which corresponds to Q185 residue of hNBS1, was widely distributed in the closed colonies derived from the eastern Korean population of medaka...
2017: PloS One
https://www.readbyqxmd.com/read/28107378/polymorphisms-in-stat4-ptpn2-psors1c1-and-traf3ip2-genes-are-associated-with-the-response-to-tnf-inhibitors-in-patients-with-rheumatoid-arthritis
#7
Paola Conigliaro, Cinzia Ciccacci, Cristina Politi, Paola Triggianese, Sara Rufini, Barbara Kroegler, Carlo Perricone, Andrea Latini, Giuseppe Novelli, Paola Borgiani, Roberto Perricone
OBJECTIVE: Rheumatoid Arthritis (RA) is a progressive autoimmune disease characterized by chronic joint inflammation and structural damage. Remission or at least low disease activity (LDA) represent potentially desirable goals of RA treatment. Single nucleotide polymorphisms (SNPs) in several genes might be useful for prediction of response to therapy. We aimed at exploring 4 SNPs in candidate genes (STAT4, PTPN2, PSORS1C1 and TRAF3IP2) in order to investigate their potential role in the response to therapy with tumor necrosis factor inhibitors (TNF-i) in RA patients...
2017: PloS One
https://www.readbyqxmd.com/read/28107349/using-breast-cancer-risk-associated-polymorphisms-to-identify-women-for-breast-cancer-chemoprevention
#8
Elad Ziv, Jeffrey A Tice, Brian Sprague, Celine M Vachon, Steven R Cummings, Karla Kerlikowske
BACKGROUND: Breast cancer can be prevented with selective estrogen receptor modifiers (SERMs) and aromatase inhibitors (AIs). The US Preventive Services Task Force recommends that women with a 5-year breast cancer risk ≥3% consider chemoprevention for breast cancer. More than 70 single nucleotide polymorphisms (SNPs) have been associated with breast cancer. We sought to determine how to best integrate risk information from SNPs with other risk factors to risk stratify women for chemoprevention...
2017: PloS One
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#9
Ivna N S R Carvalho, Adriana H O Reis, Anna C E Dos Santos, Fernando R Vargas
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The tumor almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent genetic modifiers of RB. OBJECTIVE: To investigate whether a SNP (rs4938723T > C) in mir-34b/c gene, a key effector of p53, could influence RB risk and patients' age of onset...
January 13, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28106497/association-of-renin-angiotensin-system-genetic-polymorphisms-and-aneurysmal-subarachnoid-hemorrhage
#10
Christoph J Griessenauer, R Shane Tubbs, Paul M Foreman, Michelle H Chua, Nilesh A Vyas, Robert H Lipsky, Mingkuan Lin, Ramaswamy Iyer, Rishikesh Haridas, Beverly C Walters, Salman Chaudry, Aisana Malieva, Samantha Wilkins, Mark R Harrigan, Winfield S Fisher, Mohammadali M Shoja
OBJECTIVE Renin-angiotensin system (RAS) genetic polymorphisms are thought to play a role in cerebral aneurysm formation and rupture. The Cerebral Aneurysm Renin-Angiotensin System (CARAS) study prospectively evaluated common RAS polymorphisms and their relation to aneurysmal subarachnoid hemorrhage (aSAH). METHODS The CARAS study prospectively enrolled aSAH patients and controls at 2 academic centers in the United States. A blood sample was obtained from all patients for genetic evaluation and measurement of plasma angiotensin-converting enzyme (ACE) concentration...
January 20, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28106148/complete-genome-sequencing-elucidates-outbreak-dynamics-of-ca-mrsa-usa300-st8-spa-t008-in-an-academic-hospital-of-paramaribo-republic-of-suriname
#11
Artur J Sabat, Sandra M Hermelijn, Viktoria Akkerboom, Amadu Juliana, John E Degener, Hajo Grundmann, Alexander W Friedrich
We report the investigation of an outbreak situation of methicillin-resistant Staphylococcus aureus (MRSA) that occurred at the Academic Hospital Paramaribo (AZP) in the Republic of Suriname from April to May 2013. We performed whole genome sequencing with complete gap closure for chromosomes and plasmids on all isolates. The outbreak involved 12 patients and 1 healthcare worker/nurse at the AZP. In total 24 isolates were investigated. spa typing, genome-wide single nucleotide polymorphism (SNP) analysis, ad hoc whole genome multilocus sequence typing (wgMLST), stable core genome MLST (cgMLST) and in silico PFGE were used to determine phylogenetic relatedness and to identify transmission...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28106113/genetic-risk-variants-for-metabolic-traits-in-arab-populations
#12
Prashantha Hebbar, Naser Elkum, Fadi Alkayal, Sumi Elsa John, Thangavel Alphonse Thanaraj, Osama Alsmadi
Despite a high prevalence of metabolic trait related diseases in Arabian Peninsula, there is a lack of convincingly identified genetic determinants for metabolic traits in this population. Arab populations are underrepresented in global genome-wide association studies. We genotyped 1965 unrelated Arab individuals from Kuwait using Cardio-MetaboChip, and tested SNP associations with 13 metabolic traits. Models based on recessive mode of inheritance identified Chr15:40531386-rs12440118/ZNF106/W->R as a risk variant associated with glycated-hemoglobin at close to 'genome-wide significant' p-value and five other risk variants 'nominally' associated (p-value ≤ 5...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28105927/candidate-snp-markers-of-aggressiveness-related-complications-and-comorbidities-of-genetic-diseases-are-predicted-by-a-significant-change-in-the-affinity-of-tata-binding-protein-for-human-gene-promoters
#13
Irina V Chadaeva, Mikhail P Ponomarenko, Dmitry A Rasskazov, Ekaterina B Sharypova, Elena V Kashina, Marina Yu Matveeva, Tatjana V Arshinova, Petr M Ponomarenko, Olga V Arkova, Natalia P Bondar, Ludmila K Savinkova, Nikolay A Kolchanov
BACKGROUND: Aggressiveness in humans is a hereditary behavioral trait that mobilizes all systems of the body-first of all, the nervous and endocrine systems, and then the respiratory, vascular, muscular, and others-e.g., for the defense of oneself, children, family, shelter, territory, and other possessions as well as personal interests. The level of aggressiveness of a person determines many other characteristics of quality of life and lifespan, acting as a stress factor. Aggressive behavior depends on many parameters such as age, gender, diseases and treatment, diet, and environmental conditions...
December 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28105800/re-evaluating-data-quality-of-dog-mitochondrial-y-chromosomal-and-autosomal-snps-genotyped-by-snp-array
#14
Newton O Otecko, Min-Sheng Peng, He-Chuan Yang, Ya-Ping Zhang, Guo-Dong Wang
Quality deficiencies in single nucleotide polymorphism (SNP) analyses have important implications. We used missingness rates to investigate the quality of a recently published dataset containing 424 mitochondrial, 211 Y chromosomal, and 160 432 autosomal SNPs generated by a semicustom Illumina SNP array from 5 392 dogs and 14 grey wolves. Overall, the individual missingness rate for mitochondrial SNPs was ~43.8%, with 980 (18.1%) individuals completely missing mitochondrial SNP genotyping (missingness rate=1)...
November 18, 2016: Zool Res
https://www.readbyqxmd.com/read/28105587/phenotype-specific-association-of-single-nucleotide-polymorphisms-with-heart-failure-and-preserved-ejection-fraction-a-genome-wide-association-analysis-of-the-cardiovascular-health-study
#15
David P Kao, Laura M Stevens, Michael A Hinterberg, Carsten Görg
Little is known about genetics of heart failure with preserved ejection fraction (HFpEF) in part because of the many comorbidities in this population. To identify single-nucleotide polymorphisms (SNPs) associated with HFpEF, we analyzed phenotypic and genotypic data from the Cardiovascular Health Study, which profiled patients using a 50,000 SNP array. Results were explored using novel SNP- and gene-centric tools. We performed analyses to determine whether some SNPs were relevant only in certain phenotypes...
January 19, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28104544/molecular-genetics-of-familial-hypercholesterolemia-in-israel-revisited
#16
Ronen Durst, Uche Ken Ibe, Shoshi Shpitzen, Daniel Schurr, Osnat Eliav, Marta Futema, Ros Whittall, Auryan Szalat, Vardiella Meiner, Hilla Knobler, Dov Gavish, Yaakov Henkin, Avishay Ellis, Ardon Rubinstein, Dror Harats, Rafael Bitzur, Bruno Hershkovitz, Steve E Humphries, Eran Leitersdorf
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel. METHODS: New families were collected through the MEDPED (Make Early Diagnosis Prevent Early Death) FH program. Molecular analysis of the LDLR, PCSK9 and APOB genes was done using High Resolution Melt and direct sequencing in 67 index cases...
December 18, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28103790/microrna-146a-rs2910164-is-associated-with-severe-preeclampsia-in-black-south-african-women-on-haart
#17
Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay, Anil Amichund Chuturgoon
BACKGROUND: South African (SA) Black women have a high prevalence of preeclampsia and HIV, both conditions associated with increased inflammation. miR-146a is an inflammatory-associated miR and a common single nucleotide polymorphism (rs2910164) has been associated with several disease conditions. To date, this SNP has not been investigated in SA Black women. We therefore aimed to investigate the miR-146a G > C SNP in SA Blacks with preeclampsia, and further examine possible association among preeclamptic (PE) women with HIV infection on HAART...
January 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28103633/irf4-rs12203592-functional-variant-and-melanoma-survival
#18
Miriam Potrony, Aida Rebollo-Morell, Pol Giménez-Xavier, Lisa Zimmer, Joan Anton Puig-Butille, Gemma Tell-Marti, Antje Sucker, Celia Badenas, Cristina Carrera, Josep Malvehy, Dirk Schadendorf, Susana Puig
Inherited genetic factors may modulate clinical outcome in melanoma. Some low to medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona N=493 and Essen N=438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: Odds Ratio [OR]=6.53, 95%CI 1.38 to 30.87, Adj P=0.032; Essen: OR=1...
January 19, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#19
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28103232/a-model-of-compound-heterozygous-loss-of-function-alleles-is-broadly-consistent-with-observations-from-complex-disease-gwas-datasets
#20
Jaleal S Sanjak, Anthony D Long, Kevin R Thornton
The genetic component of complex disease risk in humans remains largely unexplained. A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues for future experimental design. Here we use forward simulation to model a genomic region evolving under a balance between recurrent deleterious mutation and Gaussian stabilizing selection...
January 19, 2017: PLoS Genetics
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