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https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#1
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29143708/genome-wide-association-study-for-growth-traits-in-nelore-cattle
#2
A P N Terakado, R B Costa, G M F de Camargo, N Irano, T Bresolin, L Takada, C V D Carvalho, H N Oliveira, R Carvalheiro, F Baldi, L G de Albuquerque
The objective of this study was to investigate the association of single nucleotide polymorphisms (SNPs) with birth weight, weight gain from birth to weaning and from weaning to yearling, yearling height and cow weight in Nelore cattle. Data from 5064 animals participating in the DeltaGen and PAINT breeding programs were used. The animals were genotyped with a panel of 777 962 SNPs (Illumina BovineHD BeadChip) and 412 993 SNPs remained after quality control analysis of the genomic data. A genome-wide association study was performed using a single-step methodology...
November 16, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29143671/gwas-of-agronomic-traits-in-soybean-collection-included-in-breeding-pool-in-kazakhstan
#3
Alibek Zatybekov, Saule Abugalieva, Svetlana Didorenko, Yelena Gerasimova, Ivan Sidorik, Shynar Anuarbek, Yerlan Turuspekov
BACKGROUND: In recent years soybean is becoming one of the most important oilseed crops in Kazakhstan. Only within the last ten years (2006-2016), the area under soybean is expanded from 45 thousand hectares (ha) in 2006 to 120 thousand ha in 2016. The general trend of soybean expansion is from south-eastern to eastern and northern regions of the country, where average temperatures are lower and growing seasons are shorter. These new soybean growing territories were poorly examined in terms of general effects on productivity level among the diverse sample of soybean accessions...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29143610/development-of-f1-hybrid-population-and-the-high-density-linkage-map-for-european-aspen-populus-tremula-l-using-radseq-technology
#4
Anatoly V Zhigunov, Pavel S Ulianich, Marina V Lebedeva, Peter L Chang, Sergey V Nuzhdin, Elena K Potokina
BACKGROUND: Restriction-site associated DNA sequencing (RADseq) technology was recently employed to identify a large number of single nucleotide polymorphisms (SNP) for linkage mapping of a North American and Eastern Asian Populus species. However, there is also the need for high-density genetic linkage maps for the European aspen (P. tremula) as a tool for further mapping of quantitative trait loci (QTLs) and marker-assisted selection of the Populus species native to Europe. RESULTS: We established a hybrid F1 population from the cross of two aspen parental genotypes diverged in their phenological and morphological traits...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29143598/gwas-for-plant-growth-stages-and-yield-components-in-spring-wheat-triticum-aestivum-l-harvested-in-three-regions-of-kazakhstan
#5
Yerlan Turuspekov, Aida Baibulatova, Kanat Yermekbayev, Laura Tokhetova, Vladimir Chudinov, Grigoriy Sereda, Martin Ganal, Simon Griffiths, Saule Abugalieva
BACKGROUND: Spring wheat is the largest agricultural crop grown in Kazakhstan with an annual sowing area of 12 million hectares in 2016. Annually, the country harvests around 15 million tons of high quality grain. Despite environmental stress factors it is predicted that the use of new technologies may lead to increases in productivity from current levels of 1.5 to up to 3 tons per hectare. One way of improving wheat productivity is by the application of new genomic oriented approaches in plant breeding projects...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29129827/genetic-predisposition-clinical-risk-factor-burden-and-lifetime-risk-of-atrial-fibrillation
#6
Lu-Chen Weng, Sarah R Preis, Olivia L Hulme, Martin G Larson, Seung Hoan Choi, Biqi Wang, Ludovic Trinquart, David D McManus, Laila Staerk, Honghuang Lin, Kathryn L Lunetta, Patrick T Ellinor, Emelia J Benjamin, Steven A Lubitz
Background -The long-term probability of developing atrial fibrillation (AF) considering genetic predisposition and clinical risk factor burden is unknown. Methods -We estimated lifetime risk of AF in individuals from the community-based Framingham Heart Study. Polygenic risk for AF was derived using a score of approximately 1,000 AF-associated single nucleotide polymorphisms. Clinical risk factor burden was calculated for each individual using a validated risk score for incident AF comprised of height, weight, systolic and diastolic blood pressure, current smoking status, antihypertensive medication use, diabetes, history of myocardial infarction, and history of heart failure...
November 12, 2017: Circulation
https://www.readbyqxmd.com/read/29121402/incorporating-functional-genomic-information-to-enhance-polygenic-signal-and-identify-variants-involved-in-gene-by-environment-interaction-for-young-adult-alcohol-problems
#7
Jessica E Salvatore, Jeanne E Savage, Peter Barr, Aaron R Wolen, Fazil Aliev, Eero Vuoksimaa, Antti Latvala, Lea Pulkkinen, Richard J Rose, Jaakko Kaprio, Danielle M Dick
BACKGROUND: Characterizing aggregate genetic risk for alcohol misuse and identifying variants involved in gene-by-environment interaction (G×E) effects has so far been a major challenge. We hypothesized that functional genomic information could be used to enhance detection of polygenic signal underlying alcohol misuse, and to prioritize identification of single nucleotide polymorphisms (SNPs) most likely to exhibit G×E effects. METHODS: We examined these questions in the young adult FinnTwin12 sample (n=1170)...
November 9, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29113935/predicting-age-by-mining-electronic-medical-records-with-deep-learning-characterizes-differences-between-chronological-and-physiological-age
#8
Zichen Wang, Li Li, Benjamin S Glicksberg, Ariel Israel, Joel T Dudley, Avi Ma'ayan
Determining the discrepancy between chronological and physiological age of patients is central to preventative and personalized care. Electronic medical records (EMR) provide rich information about the patient physiological state, but it is unclear whether such information can be predictive of chronological age. Here we present a deep learning model the uses vital signs and lab tests contained within the EMR of Mount Sinai Health System (MSHS) to predict chronological age. The model is trained on 377,686 EMR from patients of ages 18-85 years old...
November 4, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29094466/joint-effects-of-prothrombotic-genotypes-and-body-height-on-the-risk-of-venous-thromboembolism-the-troms%C3%A3-study
#9
Lars D Horvei, Sigrid K Braekkan, Erin N Smith, Terry Solomon, Kristian Hindberg, Kelly A Frazer, Frits R Rosendaal, John-Bjarne Hansen
BACKGROUND: Studies have reported synergistic effects of prothrombotic single nucleotide polymorphisms (SNPs) and obesity on the risk of venous thromboembolism (VTE). Tall stature is associated with increased VTE risk, but the joint effect of prothrombotic genotypes and tall stature on VTE risk is unknown. AIMS: To investigate the joint effects of prothrombotic genotypes and tall stature on the risk of VTE. METHODS: Cases with incident VTE (n=676) and a randomly selected age-weighted subcohort (n=1842) were sampled from the Tromsø study (cohort follow-up: 1994-2012)...
November 2, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29065852/genetic-determinants-of-growth-hormone-and-gh-related-phenotypes
#10
Erik Hallengren, Peter Almgren, Malin Svensson, Widet Gallo, Gunnar Engström, Margaretha Persson, Olle Melander
BACKGROUND: Higher fasting Growth Hormone (GH) has been associated with increased cardiovascular morbidity and mortality. Our objective was to find genetic determinants of fasting GH in order to facilitate future efforts of analyzing the association between fasting growth hormone and cardiovascular disease. A genome-wide association study (GWAS) was performed in a discovery cohort of 4134 persons (58% females; age 46-68 yrs), linking SNPs to fasting hs-GH. Fifteen SNPs were replicated in an independent cohort of 5262 persons (28...
October 24, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28975155/genome-wide-scan-in-hispanics-highlights-candidate-loci-for-brain-white-matter-hyperintensities
#11
Ashley Beecham, Chuanhui Dong, Clinton B Wright, Nicole Dueker, Adam M Brickman, Liyong Wang, Charles DeCarli, Susan H Blanton, Tatjana Rundek, Richard Mayeux, Ralph L Sacco
OBJECTIVE: To investigate genetic variants influencing white matter hyperintensities (WMHs) in the understudied Hispanic population. METHODS: Using 6.8 million single nucleotide polymorphisms (SNPs), we conducted a genome-wide association study (GWAS) to identify SNPs associated with WMH volume (WMHV) in 922 Hispanics who underwent brain MRI as a cross-section of 2 community-based cohorts in the Northern Manhattan Study and the Washington Heights-Inwood Columbia Aging Project...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28958036/inverse-association-between-height-increasing-alleles-and-extreme-longevity-in-japanese-women
#12
Kumpei Tanisawa, Nobuyoshi Hirose, Yasumichi Arai, Hiroshi Shimokata, Yoshiji Yamada, Hisashi Kawai, Motonaga Kojima, Shuichi Obuchi, Hirohiko Hirano, Hiroyuki Suzuki, Yoshinori Fujiwara, Yu Taniguchi, Shoji Shinkai, Kazushige Ihara, Maki Sugaya, Mitsuru Higuchi, Tomio Arai, Seijiro Mori, Motoji Sawabe, Noriko Sato, Masaaki Muramatsu, Masashi Tanaka
Growth hormone (GH)/insulin-like growth factor-1 (IGF-1)/insulin signaling is one of the most plausible biological pathways regulating aging and longevity. Previous studies have demonstrated that several single nucleotide polymorphisms (SNPs) in the GH/IGF-1/insulin signaling-associated genes influence both longevity and adult height, suggesting the possibility of a shared genetic architecture between longevity and height. We therefore examined the relationship between 30 height-associated SNPs and extreme longevity in a Japanese population consisting of 428 centenarians and 4,026 younger controls...
August 21, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28952421/genome-wide-association-mapping-of-loci-for-resistance-to-stripe-rust-in-north-american-elite-spring-wheat-germplasm
#13
Jayfred Gaham Godoy, Sheri Rynearson, Xianming Chen, Michael Pumphrey
Stripe rust, caused by Puccinia striiformis Westend. f. sp. tritici Erikss. (Pst), is a major yield-limiting foliar disease of wheat (Triticum aestivum L.) worldwide. In this study, the genetic variability of elite spring wheat germplasm from North America was investigated to characterize the genetic basis of effective all-stage and adult plant resistance (APR) to stripe rust. A genome-wide association study (GWAS) was conducted using 237 elite spring wheat lines genotyped with an Illumina Infinium 90K SNP array...
September 27, 2017: Phytopathology
https://www.readbyqxmd.com/read/28948303/association-analysis-of-salt-tolerance-in-cowpea-vigna-unguiculata-l-walp-at-germination-and-seedling-stages
#14
Waltram Ravelombola, Ainong Shi, Yuejin Weng, Beiquan Mou, Dennis Motes, John Clark, Pengyin Chen, Vibha Srivastava, Jun Qin, Lingdi Dong, Wei Yang, Gehendra Bhattarai, Yuichi Sugihara
This is the first report on association analysis of salt tolerance and identification of SNP markers associated with salt tolerance in cowpea. Cowpea (Vigna unguiculata (L.) Walp) is one of the most important cultivated legumes in Africa. The worldwide annual production in cowpea dry seed is 5.4 million metric tons. However, cowpea is unfavorably affected by salinity stress at germination and seedling stages, which is exacerbated by the effects of climate change. The lack of knowledge on the genetic underlying salt tolerance in cowpea limits the establishment of a breeding strategy for developing salt-tolerant cowpea cultivars...
September 25, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28947701/effects-of-genetic-variants-of-the-bovine-wnt8a-gene-on-nine-important-growth-traits-in-beef-cattle
#15
Yong-Zhen Huang, Yong Zou, Qing Lin, Hua He, Li Zheng, Zi-Jing Zhang, Yong-Long Dang, Chu-Zhao Lei, Xian-Yong Lan, Xing-Shan Qi, Hong Chen
WNT-β-catenin-TCF pathway is involved in carcinogenesis and foetal development. As a member of the WNT gene family, Wnt8A encodes secreted signalling proteins and responds to many biological processes.However, similar research on the effects of genetic variations of Wnt8A gene on growth traits is lacking. Therefore, in this study, polymorphisms of Wnt8A were detected in 396 animals from Chinese Qinchuan cattle using DNA pool sequencing and PCR-RFLP methods. Four novel single-nucleotide polymorphisms (SNPs) of Wnt8A gene were identified, including three mutations in introns (g...
September 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28942111/open-source-software-euroformix-can-be-used-to-analyse-complex-snp-mixtures
#16
Øyvind Bleka, Mayra Eduardoff, Carla Santos, Chris Phillips, Walther Parson, Peter Gill
A series of two- and three-person mixtures of varying dilutions were prepared and analysed with Life Technologies' HID-Ion AmpliSeq™ Identity Panel v2.2 using the Ion PGM™ massively parallel sequencing (MPS) system. From this panel we used 134 autosomal SNPs. Using the reference samples of three donors, we evaluated the strength of evidence with likelihood ratio (LR) calculations using the open-source quantitative EuroForMix program and compared the results with a previous study using a qualitative software (LRmix)...
August 18, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28923182/association-between-age-at-menarche-and-cardiovascular-disease-a-systematic-review-on-risk-and-potential-mechanisms
#17
REVIEW
Janneke Luijken, Yvonne T van der Schouw, Daniëlle Mensink, N Charlotte Onland-Moret
Age at menarche (AAM) has been reported to be associated with the risk of cardiovascular disease (CVD), but the shape of and the mechanisms behind this association remain unclear. We reviewed the data on the association between AAM and different subtypes of CVD, and used shared genetic loci to identify possible mechanisms underlying this association using shared genetic association. We searched the databases of PubMed, Web of Science and Embase through to April 2017. We included articles with any clinically manifest CVD endpoint and for any ethnicity...
October 2017: Maturitas
https://www.readbyqxmd.com/read/28922760/the-roles-of-pleiotropy-and-close-linkage-as-revealed-by-association-mapping-of-yield-and-correlated-traits-of-wheat-triticum-aestivum-l
#18
Albert W Schulthess, Jochen C Reif, Jie Ling, Jörg Plieske, Sonja Kollers, Erhard Ebmeyer, Viktor Korzun, Odile Argillier, Gunther Stiewe, Martin W Ganal, Marion S Röder, Yong Jiang
Grain yield (GY) of bread wheat (Triticum aestivum L.) is quantitatively inherited. Correlated GY-syndrome traits such as plant height (PH), heading date (HD), thousand grain weight (TGW), test weight (TW), grains per ear (GPE), and ear weight (EW) influence GY. Most quantitative genetics studies assessed the multiple-trait (MT) complex of GY-syndrome using single-trait approaches, and little is known about its underlying pleiotropic architecture. We investigated the pleiotropic architecture of wheat GY-syndrome through MT association mapping (MT-GWAS) using 372 varieties phenotyped in up to eight environments and genotyped with 18 832 single nucleotide polymorphisms plus 24 polymorphic functional markers...
July 10, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28921393/genome-wide-compound-heterozygote-analysis-highlights-alleles-associated-with-adult-height-in-europeans
#19
Kaiyin Zhong, Gu Zhu, Xiaoxi Jing, A Emile J Hendriks, Sten L S Drop, M Arfan Ikram, Scott Gordon, Changqing Zeng, Andre G Uitterlinden, Nicholas G Martin, Fan Liu, Manfred Kayser
Adult height is the most widely genetically studied common trait in humans; however, the trait variance explainable by currently known height-associated single nucleotide polymorphisms (SNPs) identified from the previous genome-wide association studies (GWAS) is yet far from complete given the high heritability of this complex trait. To exam if compound heterozygotes (CH) may explain extra height variance, we conducted a genome-wide analysis to screen for CH in association with adult height in 10,631 Dutch Europeans enriched with extremely tall people, using our recently developed method implemented in the software package CollapsABEL...
September 18, 2017: Human Genetics
https://www.readbyqxmd.com/read/28869480/genetically-predicted-adult-height-and-alzheimer-s-disease
#20
Susanna C Larsson, Matthew Traylor, Stephen Burgess, Hugh S Markus
BACKGROUND: Observational studies have linked increased adult height with better cognitive performance and reduced risk of Alzheimer's disease (AD). It is unclear whether the associations are due to shared biological processes that influence height and AD or due to confounding by early life exposures or environmental factors. OBJECTIVE: To use a genetic approach to investigate the association between adult height and AD. METHODS: We selected 682 single nucleotide polymorphisms (SNPs) associated with height at genome-wide significance (p < 5×10-8) in the Genetic Investigation of ANthropometric Traits (GIANT) consortium...
2017: Journal of Alzheimer's Disease: JAD
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