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Statistical genetics

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https://www.readbyqxmd.com/read/29245019/genetic-polymorphism-of-21-non-codis-str-loci-in-chengdu-han-population-and-its-interpopulation-analysis-between-25-populations-in-china
#1
Ye Li, Hepei Li, Guanglin He, Weibo Liang, Haibo Luo, Miao Liao, Ji Zhang, Jing Yan, Yingbi Li, Yiping Hou, Jin Wu
AGCU 21+1 STR kit contains 21 non-combined DNA index system (non-CODIS) short tandem repeats (STR) loci and a sex-determining locus amelogenin. In this study, we evaluated the genetic diversity and forensically relevant population statistics of 21 non-CODIS loci in 210 Chinese Han individuals from Chengdu city, Sichuan province, Southwest China. No significant deviations from Hardy-Weinberg equilibrium were observed within the 21 non-CODIS STR loci. The combined power of discrimination (CPD) and combined power of exclusion (CPE) were 0...
December 9, 2017: Legal Medicine
https://www.readbyqxmd.com/read/29242627/adding-loci-improves-phylogeographic-resolution-in-red-mangroves-despite-increased-missing-data-comparing-microsatellites-and-rad-seq-and-investigating-loci-filtering
#2
Richard G J Hodel, Shichao Chen, Adam C Payton, Stuart F McDaniel, Pamela Soltis, Douglas E Soltis
The widespread adoption of RAD-Seq data in phylogeography means genealogical relationships previously evaluated using relatively few genetic markers can now be addressed with thousands of loci. One challenge, however, is that RAD-Seq generates complete genotypes for only a small subset of loci or individuals. Simulations indicate that loci with missing data can produce biased estimates of key population genetic parameters, although the influence of such biases in empirical studies is not well understood. Here we compare microsatellite data (8 loci) and RAD-Seq data (six datasets ranging from 239 to 25,198 loci) from red mangroves (Rhizophora mangle) in Florida to evaluate how different levels of data filtering influence phylogeographic inferences...
December 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29241578/polymorphisms-in-the-leptin-rs7799039-gene-are-associated-with-an-increased-risk-of-excessive-gestational-weight-gain-but-not-with-leptin-concentration-during-pregnancy
#3
Maisa Cruz Martins, Janet Trujillo, Dayana Rodrigues Farias, Gilberto Kac
Single nucleotide polymorphisms (SNPs) in leptin (LEP) and leptin receptor (LEPR) have been shown to be linked to obesity-related metabolic markers and phenotype. Therefore, we hypothesized that the LEP-rs7799039 and LEPR-rs1137101 SNPs are related to the risk of pre-pregnancy overweight/obesity (body mass index ≥25 kg/m2) as well as to excessive gestational weight gain (GWG) and high concentrations of leptin throughout pregnancy. We investigated a prospective cohort of 147 Brazilian pregnant women through weeks 5-13, 20-26, and 30-36 of gestation...
November 2017: Nutrition Research
https://www.readbyqxmd.com/read/29240818/genetic-dissection-of-main-and-epistatic-effects-of-qtl-based-on-augmented-triple-test-cross-design
#4
Xueli Zhang, Congwei Sun, Zheng Zhang, Zhijun Dai, Yuan Chen, Xiong Yuan, Zheming Yuan, Wenbang Tang, Lanzhi Li, Zhongli Hu
The use of heterosis has considerably increased the productivity of many crops; however, the biological mechanism underpinning the technique remains elusive. The North Carolina design III (NCIII) and the triple test cross (TTC) are powerful and popular genetic mating design that can be used to decipher the genetic basis of heterosis. However, when using the NCIII design with the present quantitative trait locus (QTL) mapping method, if epistasis exists, the estimated additive or dominant effects are confounded with epistatic effects...
2017: PloS One
https://www.readbyqxmd.com/read/29240768/the-association-between-the-nicotinic-acetylcholine-receptor-%C3%AE-4-subunit-gene-chrna4-rs1044396-and-internet-gaming-disorder-in-korean-male-adults
#5
Jo-Eun Jeong, Je-Keun Rhee, Tae-Min Kim, Su-Min Kwak, Sol-Hee Bang, Hyun Cho, Young-Hoon Cheon, Jung Ah Min, Gil Sang Yoo, Kyudong Kim, Jung-Seok Choi, Sam-Wook Choi, Dai-Jin Kim
The primary aim of this study was to investigate the genetic predisposition of Internet gaming disorder (IGD), and the secondary aim was to compare the results to those of alcohol dependence (AD). Two independent case-control studies were conducted. A total of 30 male participants with IGD, diagnosed according to the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria, and 30 sex-matched controls participated in study 1. We designed targeted exome sequencing (TES) to test for 72 candidate genes that have been implicated in the pathogenesis of addiction...
2017: PloS One
https://www.readbyqxmd.com/read/29240341/finland-establishing-the-internet-of-genomics-and-health-data
#6
Aarno Palotie, Samuli Ripatti
Genomic data, i.e. measurement of variation in the complete genome has revolutionized genetic research and changed our understanding of the pathogenetic mechanisms of diseases. Genomic data in combination with Finnish special strengths - population history, the nation's comprehensive health records and a strong research tradition in genetic epidemiology - has made Finland a testing laboratory for diseases of public health importance. At the same time, genomic research has changed into statistical evaluation of large masses of data - big data...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29240201/coronally-advanced-flap-with-site-specific-application-of-connective-tissue-graft-for-the-treatment-of-multiple-adjacent-gingival-recessions-a-3-year-follow-up-case-series
#7
Martina Stefanini, Giovanni Zucchelli, Matteo Marzadori, Massimo de Sanctis
The aim of this study was to evaluate the short- (1 year) and longer-term (3 years) effectiveness of a surgical procedure combining coronally advanced flap (CAF) with site-specific application of connective tissue graft (CTG) in the treatment of multiple gingival recessions (MGR). A total of 60 periodontally healthy subjects with esthetic complaints due to excessive tooth length presenting multiple (at least three) Miller Class I and II gingival recession defects (≥ 1 mm) affecting adjacent teeth in the maxilla and mandible were enrolled in the study...
January 2018: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/29238678/a-study-of-effect-of-consanguinity-on-cochlear-morphology-in-patients-with-congenital-bilateral-profound-sensorineural-hearing-loss
#8
Y Kavitha, K Sabarigirish, Upendra Kumar Joish, Sanjeev Saxena, Angshuman Dutta
Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29238330/an-assessment-of-different-genomic-approaches-for-inferring-phylogeny-of-listeria-monocytogenes
#9
Clémentine Henri, Pimlapas Leekitcharoenphon, Heather A Carleton, Nicolas Radomski, Rolf S Kaas, Jean-François Mariet, Arnaud Felten, Frank M Aarestrup, Peter Gerner Smidt, Sophie Roussel, Laurent Guillier, Michel-Yves Mistou, René S Hendriksen
Background/objectives: Whole genome sequencing (WGS) has proven to be a powerful subtyping tool for foodborne pathogenic bacteria like L. monocytogenes. The interests of genome-scale analysis for national surveillance, outbreak detection or source tracking has been largely documented. The genomic data however can be exploited with many different bioinformatics methods like single nucleotide polymorphism (SNP), core-genome multi locus sequence typing (cgMLST), whole-genome multi locus sequence typing (wgMLST) or multi locus predicted protein sequence typing (MLPPST) on either core-genome (cgMLPPST) or pan-genome (wgMLPPST)...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29238235/oppositional-defiant-disorder-current-insight
#10
REVIEW
Abhishek Ghosh, Anirban Ray, Aniruddha Basu
Oppositional defiant disorder (ODD) is diagnosed broadly on the basis of frequent and persistent angry or irritable mood, argumentativeness/defiance, and vindictiveness. Since its inception in the third Diagnostic and Statistical Manual of Mental Disorders, epidemiological and longitudinal studies have strongly suggested a distinct existence of ODD that is different from other closely related externalizing disorders, with different course and outcome and possibly discrete subtypes. However, several issues, such as symptom threshold, dimensional versus categorical conceptualization, and sex-specific symptoms, are yet to be addressed...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/29238183/gene-and-mirna-expression-profiles-in-pbmcs-from-patients-with-severe-and-mild-emphysema-and-pizz-alpha1-antitrypsin-deficiency
#11
Cristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, Gemma Mas de Xaxars, Beata Olejnicka, Irene Belmonte, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Rodriguez-Frias, Marc Miravitlles
Introduction: COPD has complex etiologies involving both genetic and environmental determinants. Among genetic determinants, the most recognized is a severe PiZZ (Glu342Lys) inherited alpha1-antitrypsin deficiency (AATD). Nonetheless, AATD patients present a heterogeneous clinical evolution, which has not been completely explained by sociodemographic or clinical factors. Here we performed the gene expression profiling of blood cells collected from mild and severe COPD patients with PiZZ AATD...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29237677/genome-wide-association-study-implicates-atrial-natriuretic-peptide-rather-than-b-type-natriuretic-peptide-in-the-regulation-of-blood-pressure-in-the-general-population
#12
Perttu P Salo, Aki S Havulinna, Taru Tukiainen, Olli Raitakari, Terho Lehtimäki, Mika Kähönen, Johannes Kettunen, Minna Männikkö, Johan G Eriksson, Antti Jula, Stefan Blankenberg, Tanja Zeller, Veikko Salomaa, Kati Kristiansson, Markus Perola
BACKGROUND: Cardiomyocytes secrete atrial natriuretic peptide (ANP) and B-type natriuretic peptide (BNP) in response to mechanical stretching, making them useful clinical biomarkers of cardiac stress. Both human and animal studies indicate a role for ANP as a regulator of blood pressure with conflicting results for BNP. METHODS AND RESULTS: We used genome-wide association analysis (n=6296) to study the effects of genetic variants on circulating natriuretic peptide concentrations and compared the impact of natriuretic peptide-associated genetic variants on blood pressure (n=27 059)...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237585/evaluating-the-dental-caries-related-information-on-brazilian-websites-qualitative-study
#13
Patricia Estefania Ayala Aguirre, Melina Martins Coelho, Daniela Rios, Maria Aparecida Andrade Moreira Machado, Agnes Fátima Pereira Cruvinel, Thiago Cruvinel
BACKGROUND: Dental caries is the most common chronic oral disease, affecting 2.4 billion people worldwide who on average have 2.11 decayed, missing, or filled teeth. It impacts the quality of life of patients, socially and economically. However, the comprehension of dental caries may be difficult for most people, as it involves a multifactorial etiology with the interplay between the tooth surface, the dental biofilm, dietary fermentable carbohydrates, and genetic and behavioral factors...
December 13, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29236708/genome-wide-association-meta-analysis-of-fish-and-epa-dha-consumption-in-17-us-and-european-cohorts
#14
Dariush Mozaffarian, Hassan S Dashti, Mary K Wojczynski, Audrey Y Chu, Jennifer A Nettleton, Satu Männistö, Kati Kristiansson, Mägi Reedik, Jari Lahti, Denise K Houston, Marilyn C Cornelis, Frank J A van Rooij, Maria Dimitriou, Stavroula Kanoni, Vera Mikkilä, Lyn M Steffen, Marcia C de Oliveira Otto, Lu Qi, Bruce Psaty, Luc Djousse, Jerome I Rotter, Kennet Harald, Markus Perola, Harri Rissanen, Antti Jula, Fischer Krista, Evelin Mihailov, Mary F Feitosa, Julius S Ngwa, Luting Xue, Paul F Jacques, Mia-Maria Perälä, Aarno Palotie, Yongmei Liu, Nike A Nalls, Luigi Ferrucci, Dena Hernandez, Ani Manichaikul, Michael Y Tsai, Jessica C Kiefte-de Jong, Albert Hofman, André G Uitterlinden, Loukianos Rallidis, Paul M Ridker, Lynda M Rose, Julie E Buring, Terho Lehtimäki, Mika Kähönen, Jorma Viikari, Rozenn Lemaitre, Veikko Salomaa, Paul Knekt, Andres Metspalu, Ingrid B Borecki, L Adrienne Cupples, Johan G Eriksson, Stephen B Kritchevsky, Stefania Bandinelli, David Siscovick, Oscar H Franco, Panos Deloukas, George Dedoussis, Daniel I Chasman, Olli Raitakari, Toshiko Tanaka
BACKGROUND: Regular fish and omega-3 consumption may have several health benefits and are recommended by major dietary guidelines. Yet, their intakes remain remarkably variable both within and across populations, which could partly owe to genetic influences. OBJECTIVE: To identify common genetic variants that influence fish and dietary eicosapentaenoic acid plus docosahexaenoic acid (EPA+DHA) consumption. DESIGN: We conducted genome-wide association (GWA) meta-analysis of fish (n = 86,467) and EPA+DHA (n = 62,265) consumption in 17 cohorts of European descent from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium Nutrition Working Group...
2017: PloS One
https://www.readbyqxmd.com/read/29236161/genetic-analysis-of-adults-heterozygous-for-alpl-mutations
#15
Agnès Taillandier, Christelle Domingues, Annika Dufour, Françoise Debiais, Pascal Guggenbuhl, Christian Roux, Catherine Cormier, Bernard Cortet, Valérie Porquet-Bordes, Fabienne Coury, David Geneviève, Jean Chiesa, Thierry Colin, Elaine Fletcher, Agnès Guichet, Rose-Marie Javier, Michel Laroche, Michael Laurent, Ekkehart Lausch, Bruno LeHeup, Cédric Lukas, Georg Schwabe, Ineke van der Burgt, Christine Muti, Brigitte Simon-Bouy, Etienne Mornet
Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. Patients have consistently low serum alkaline phosphatase (AP), so that this parameter is a good hallmark of the disease. Adult HPP is heterogeneous, and some patients present only mild nonpathognomonic symptoms which are also common in the general population such as joint pain, osteomalacia and osteopenia, chondrocalcinosis, arthropathy and musculoskeletal pain...
December 13, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29234462/a-precise-and-consistent-assay-for-major-wall-polymer-features-that-distinctively-determine-biomass-saccharification-in-transgenic-rice-by-near-infrared-spectroscopy
#16
Jiangfeng Huang, Ying Li, Yanting Wang, Yuanyuan Chen, Mingyong Liu, Youmei Wang, Ran Zhang, Shiguang Zhou, Jingyang Li, Yuanyuan Tu, Bo Hao, Liangcai Peng, Tao Xia
Background: The genetic modification of plant cell walls has been considered to reduce lignocellulose recalcitrance in bioenergy crops. As a result, it is important to develop a precise and rapid assay for the major wall polymer features that affect biomass saccharification in a large population of transgenic plants. In this study, we collected a total of 246 transgenic rice plants that, respectively, over-expressed and RNAi silenced 12 genes of the OsGH9 and OsGH10 family that are closely associated with cellulose and hemicellulose modification...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/29234334/no-vegetative-and-fecundity-fitness-cost-associated-with-acetyl-coenzyme-a-carboxylase-non-target-site-resistance-in-a-black-grass-alopecurus-myosuroides-huds-population
#17
Eshagh Keshtkar, Solvejg K Mathiassen, Per Kudsk
Attention should be devoted to weeds evolving herbicide resistance with non-target-site resistance (NTSR) mechanism due to their unpredictable resistance patterns. Quantification of fitness cost can be used in NTSR management strategies to determine the long-term fate of resistant plants in weed populations. To our knowledge, this is the first report evaluating potential fecundity and vegetative fitness of a NTSR black-grass (Alopecurus myosuroides Huds), the most important herbicide resistant weed in Europe, with controlled genetic background...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29233108/association-between-risk-of-asthma-and-gene-polymorphisms-in-chi3l1-and-chia-a-systematic-meta-analysis
#18
Yanting Zhu, Xin Yan, Cui Zhai, Lan Yang, Manxiang Li
BACKGROUND: Previous studies have indicated that chitinase 3-like 1 (CHI3L1) gene rs4950928 polymorphism and acidic mammalian chitinase (AMCase or CHIA) gene rs10494132 polymorphism are associated with the risk of asthma. However, the results are inconsistent because of small sample size and varied ethnicity and age in studies. Therefore, a systematic meta-analysis was important to clarify the effect of CHI3L1 rs4950928 polymorphism and CHIA rs10494132 variant on asthma risk. METHODS: An electronic literature search was conducted to identify all the eligible studies...
December 12, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29233086/functional-polymorphisms-in-asporin-and-cilp-together-with-joint-loading-predispose-to-hand-osteoarthritis
#19
Mari Taipale, Svetlana Solovieva, Päivi Leino-Arjas, Minna Männikkö
BACKGROUND: Osteoarthritis (OA) is the most common degenerative joint disease afflicting people in the Western world and has a strong genetic influence. The aim of this study was to examine the association of two known functional polymorphisms in the TGF-β inhibiting genes, asporin (ASPN) and cartilage intermediate layer protein (CILP), with hand OA and potential gene-occupational hand loading interaction. RESULTS: Statistically significant interaction of the CILP rs2073711 T and ASPN D15 alleles with hand OA was observed (OR = 2...
December 12, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29233044/haplotype-based-association-of-renin-gene-polymorphisms-with-essential-hypertension-in-han-population-of-northern-china
#20
Guoping Zhang, Xueyan Li, Keyong Zhang, Jingbo Zhao, Changchun Qiu
INTRODUCTION: The renin gene has been suggested as a good candidate in the study of genetic mechanism of essential hypertension. However, studies on the contribution of renin gene polymorphisms to essential hypertension, have not had consistent outcomes. The purpose of the present study is to explore the association of renin gene polymorphisms with essential hypertension in the Han population of northern China. METHODS: A case-control study was conducted among 3090 Han farmers (1533 essential hypertension patients and 1557 normotensives)...
October 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
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