keyword
MENU ▼
Read by QxMD icon Read
search

Statistical genetics

keyword
https://www.readbyqxmd.com/read/28529598/biological-interaction-of-cigarette-smoking-on-the-association-between-genetic-polymorphisms-involved-in-inflammation-and-the-risk-of-lung-cancer-a-case-control-study-in-japan
#1
Yuzo Yamamoto, Chikako Kiyohara, Saiko Suetsugu-Ogata, Naoki Hamada, Yoichi Nakanishi
Chronic inflammation serves an important role in lung carcinogenesis, thus genetic polymorphisms involved in this pathway may affect the risk of lung cancer. The present case-control study focused on the association between lung cancer risk and genetic polymorphisms involved in inflammatory pathways. The study comprised 462 lung cancer cases and 379 controls from Japan. The roles of interleukin 8 (IL8) rs4073, nuclear factor kappa B (NFκB) rs28362491, cytochrome b-245, alpha polypeptide (CYBA) rs4673, NAD(P) H dehydrogenase, quinone 1 (NQO1) rs1800566, nitric oxide synthase 2 and inducible (NOS2) rs2297518 polymorphisms in lung carcinogenesis were investigated...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28529526/genetic-factors-and-the-risk-of-periodontitis-development-findings-from-a-systematic-review-composed-of-13-studies-of-meta-analysis-with-71-531-participants
#2
REVIEW
Maélson Klever da Silva, Antonio Carlos Gonçalves de Carvalho, Even Herlany Pereira Alves, Felipe Rodolfo Pereira da Silva, Larissa Dos Santos Pessoa, Daniel Fernando Pereira Vasconcelos
Purpose. This work aimed to synthesize the results of recent meta-analysis focusing on polymorphism in inflammatory mediators and its relation with the risk of periodontitis development. Materials and Methods. A systematic search was conducted using databases for publications prior to October 2016. Three examiners extracted data from articles with a clear association between polymorphisms in the inflammatory mediator gene and the development of periodontitis through meta-analysis using the fixed or randomized statistical models to calculate the Odds Ratio with values of P < 0...
2017: International Journal of Dentistry
https://www.readbyqxmd.com/read/28529228/-the-absence-doubled-photo-poetic-narratives-of-prophylactic-mastectomy
#3
Stella Bolaki
This essay considers Clare Best's poetic sequence Self-portrait without Breasts (2011) and her collaboration with photographer Laura Stevens, which explore preventive surgery and questions of genetics/hereditary breast cancer. In an era when risk and cosmetic reconstruction guide treatment and the development of new breast cancer subjects, Best reclaims the "flat simple scarred chest with no extras." I situate her poems in the context of statistics and the neoliberal postfeminist subject as well as in a poetic tradition about the post-mastectomy body as landscape...
2017: Literature and Medicine
https://www.readbyqxmd.com/read/28528225/predicting-type-2-diabetes-using-genetic-and-environmental-risk-factors-in-a-multi-ethnic-malaysian-cohort
#4
N Abdullah, N A Abdul Murad, E A Mohd Haniff, S E Syafruddin, J Attia, C Oldmeadow, M A Kamaruddin, N Abd Jalal, N Ismail, M Ishak, R Jamal, R J Scott, E G Holliday
OBJECTIVE: Malaysia has a high and rising prevalence of type 2 diabetes (T2D). While environmental (non-genetic) risk factors for the disease are well established, the role of genetic variations and gene-environment interactions remain understudied in this population. This study aimed to estimate the relative contributions of environmental and genetic risk factors to T2D in Malaysia and also to assess evidence for gene-environment interactions that may explain additional risk variation...
May 18, 2017: Public Health
https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#5
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527252/-characterization-of-clinical-isolates-of-mycobacterium-tuberculosis-from-hiv-positive-individuals-in-colombia-2012
#6
Claudia Castro, Alba Ricardo, Angie Zabaleta, Claudia Llerena, Gloria Puerto
INTRODUCTION: One third of the increase in tuberculosis cases is attributed to the spread of HIV. In 2012, 1,397 HIV-associated tuberculosis cases were reported in Colombia, i.e., 11.8% of the total cases. Molecular epidemiology tools help to understand the transmission of tuberculosis. OBJECTIVE: To characterize clinical isolates of Mycobacterium tuberculosis derived from HIV-infected individuals, received at the Laboratorio Nacional de Referencia in the Instituto Nacional de Salud...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527106/a-trans-acting-factor-may-modify-age-at-onset-in-familial-amyloid-polyneuropathy-attrv30m-in-portugal
#7
Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population...
May 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28526731/validated-bayesian-differentiation-of-causative-and-passenger-mutations
#8
Frederick R Cross, Michal Breker, Kristi Lieberman
In many contexts, the problem arises of determining which of many candidate mutations is the most likely to be causative for some phenotype. It is desirable to have a way to evaluate this probability that relies as little as possible on previous knowledge, to avoid bias against discovering new genes or functions. We are isolating mutants with blocked cell cycle progression in Chlamydomonas, and determining mutant genome sequences. Due to the intensity of UV mutagenesis required for efficient mutant collection, the mutants contain multiple mutations altering coding sequence...
May 19, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28525661/comparison-between-mononucleotide-and-dinucleotide-marker-panels-in-gastric-cancer-with-loss-of-hmlh1-or-hmsh2-expression
#9
Jeong Goo Kim, Soyoung Shin, Joonhong Park
BACKGROUND: DNA mismatch repair deficiency is an important molecular mechanism of genetic instability in gastric cancer, and a high instability at microsatellites is associated with favorable prognosis. We compared mononucleotide and dinucleotide microsatellite instability (MSI) marker panels in 56 paired gastric tumor and normal samples. METHODS: The mononucleotide marker panel (mono panel) consisted of 8 markers: BAT25, BAT26, BAT40, BAT-RII, NR21, NR22, NR24 and NR27...
May 16, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28525651/selecting-elephant-grass-families-and-progenies-to-produce-bioenergy-through-mixed-models-reml-blup
#10
E V Rodrigues, R F Daher, A Dos Santos, M Vivas, J C Machado, G do A Gravina, Y P de Souza, A K Vidal, A Dos S Rocha, R S Freitas
Brazil has great potential to produce bioenergy since it is located in a tropical region that receives high incidence of solar energy and presents favorable climatic conditions for such purpose. However, the use of bioenergy in the country is below its productivity potential. The aim of the current study was to select full-sib progenies and families of elephant grass (Pennisetum purpureum S.) to optimize phenotypes relevant to bioenergy production through mixed models (REML/BLUP). The circulating diallel-based crossing of ten elephant grass genotypes was performed...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28525353/molecular-genetics-of-growth-hormone-deficient-children-correlation-with-auxology-and-response-to-first-year-of-growth-hormone-therapy
#11
Vaman Khadilkar, Nikhil Phadke, Kavita Khatod, Veena Ekbote, Supriya Phanse Gupte, Ruchi Nadar, Anuradha Khadilkar
BACKGROUND: With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. METHODS: Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score <-3) and failed GH stimulation test were studied. Those having concomitant thyroid hormone or cortisol deficiencies were appropriately replaced prior to starting GH treatment...
May 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28523922/comparative-genetic-diversity-of-potato-virus-y-populations-based-on-coat-protein-gene
#12
H Hosseini, M Mehrvar, M Zakiaghl, M Siampour
Potato virus Y (PVY) is an important plant pathogen with a wide host range including economically important crops of potato, tobacco, tomato, and pepper. The coat protein gene has been commonly used in studying molecular biology of plant viruses including PVY. In this study, we used a large dataset of CP sequences from isolates collected across the world to assess the detailed molecular evolution of PVY populations with a focus on the Iranian PVY population. Phylogenetic analysis showed that the world PVY population had two major lineages (O:C and N:NTN); each comprising several divergent sublineages...
2017: Acta Virologica
https://www.readbyqxmd.com/read/28523307/mir-149-rs2292832-c-t-polymorphism-and-risk-of-gastric-cancer
#13
Raluca Alexandra Cîmpeanu, Dragoş Marian Popescu, Florin Burada, Mihai Gabriel Cucu, Dan IonuŢ Gheonea, Mihai Ioana, Ion Rogoveanu
Accumulating evidence that microRNA (miRNA) genes are involved in different processes associated with gastric carcinogenesis. The polymorphisms located on miRNA sequences may affect the interaction with their target messenger RNAs (mRNAs) and, consequently, genetic susceptibility to disease. The aim of our study was to investigate the association of miR-149 rs2292832 C>T polymorphism and gastric cancer susceptibility in Romanian patients. A total of 142 patients with gastric adenocarcinoma and 288 healthy controls were included in this study...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28522540/orthogonal-estimates-of-variances-for-additive-dominance-and-epistatic-effects-in-populations
#14
Z G Vitezica, A Legarra, M A Toro, L Varona
Genomic prediction methods based on multiple markers have potential to include non-additive effects in prediction and analysis of complex traits. However, most developments assume Hardy-Weinberg equilibrium (HWE). Statistical approaches for genomic selection that account for dominance and epistasis in a general context, without assuming HWE (e.g. crosses or homozygous lines), are therefore needed. Our method expands the NOIA orthogonal approach, that builds incidence matrices based on genotypic (not allelic) frequencies, to include genome-wide epistasis for an arbitrary number of interacting loci in a genomic evaluation context...
May 18, 2017: Genetics
https://www.readbyqxmd.com/read/28522356/association-between-matrix-metaloproteinases-2-1306c-t-polymorphism-and-the-risk-of-coronary-artery-disease-in-iranian-population
#15
Mahshid Sattari, Maryam Hassanzad, Seyed Hamid Jamaldini, Alireza Najafi, Mahdieh Imani, Mohammadreza Mohammadhassani, Mandana Hasanzad
BACKGROUND: Coronary Artery Disease (CAD) represents the most important cause of sudden cardiac death. Interaction between genetic and environmental factors, individual susceptibility of the development of CAD is one of the MMP2 genes. Genetic variants' dysfunction of the MMP2 gene associated with the risk of CAD. The aim of the present study is to assess possible association between risk of Coronary Artery Disease and MMP2-1306C/T polymorphism. METHODS: This case-control study contains a total number of 344 subjects, including 215 patients with CAD and 129 of controls...
May 6, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28522317/the-association-between-cytochrome-p450-3a-progesterone-receptor-polymorphisms-plasma-17-ohpc-concentrations-and-spontaneous-preterm-birth
#16
Martha L Bustos, Steve N Caritis, Kathleen A Jablonski, Uma M Reddy, Yoram Sorokin, John M Thorp, Michael W Varner, Ronald J Wapner, Jay D Iams, Marshall W Carpenter, Alan M Peaceman, Brian M Mercer, Anthony Sciscione, Dwight J Rouse, Susan M Ramin
BACKGROUND: Infants born before 37 weeks' gestation are of public health concern since complications associated with preterm birth are the leading cause of mortality in children under 5 years of age and a major cause of morbidity and lifelong disability. The administration of 17-hydroxyprogesterone caproate (17-OHPC) reduces preterm birth by 33% in women with history spontaneous preterm birth (SPTB). We demonstrated previously that plasma concentrations of 17-OHPC vary widely among pregnant women and that women with 17-OHPC plasma concentrations in the lowest quartile had SPTB rates of 40% vs rates of 25% in those women with higher concentrations...
May 15, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28521362/association-of-common-genetic-variants-with-contralateral-breast-cancer-risk-in-the-wecare-study
#17
Mark E Robson, Anne S Reiner, Jennifer D Brooks, Patrick J Concannon, Esther M John, Lene Mellemkjaer, Leslie Bernstein, Kathleen E Malone, Julia A Knight, Charles F Lynch, Meghan Woods, Xiaolin Liang, Robert W Haile, David J Duggan, Roy E Shore, Susan A Smith, Duncan C Thomas, Daniel O Stram, Jonine L Bernstein
Background: Women with unilateral breast cancer (UBC) are at risk of developing a subsequent contralateral breast cancer (CBC). Common variants are associated with breast cancer risk. Whether these influence CBC risk is unknown. Methods: Participants were breast cancer cases from the population-based Women's Environmental Cancer and Radiation Epidemiology (WECARE) Study. Sixty-seven established breast cancer risk loci were genotyped directly or by imputation in 1459 case subjects with CBC and 2126 UBC control subjects...
October 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28520713/combining-inferred-regulatory-and-reconstructed-metabolic-networks-enhances-phenotype-prediction-in-yeast
#18
Zhuo Wang, Samuel A Danziger, Benjamin D Heavner, Shuyi Ma, Jennifer J Smith, Song Li, Thurston Herricks, Evangelos Simeonidis, Nitin S Baliga, John D Aitchison, Nathan D Price
Gene regulatory and metabolic network models have been used successfully in many organisms, but inherent differences between them make networks difficult to integrate. Probabilistic Regulation Of Metabolism (PROM) provides a partial solution, but it does not incorporate network inference and underperforms in eukaryotes. We present an Integrated Deduced And Metabolism (IDREAM) method that combines statistically inferred Environment and Gene Regulatory Influence Network (EGRIN) models with the PROM framework to create enhanced metabolic-regulatory network models...
May 17, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28518168/using-high-resolution-variant-frequencies-to-empower-clinical-genome-interpretation
#19
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur, James S Ware
PurposeWhole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognized as a necessary, although not sufficient, criterion for pathogenicity, but frequency cutoffs used in Mendelian analysis are often arbitrary and overly lenient. Recent very large reference datasets, such as the Exome Aggregation Consortium (ExAC), provide an unprecedented opportunity to obtain robust frequency estimates even for very rare variants...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28516797/blood-glucose-and-insulin-and-correlation-of-slc25a13-mutations-with-biochemical-changes-in-niccd-patients
#20
Chun-Ting Lu, Qi-Ping Shi, Ze-Jian Li, Jiong Li, Lie Feng
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD diagnosis were case group...
January 1, 2017: Experimental Biology and Medicine
keyword
keyword
80094
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"