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Genetic variation

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https://www.readbyqxmd.com/read/29471513/the-genetic-correlation-between-scapula-shape-and-shoulder-lesions-in-sows
#1
Ø Nordbø, L E Gangsei, T Aasmundstad, E Grindflek, J Kongsro
Shoulder lesions and body condition of sows at weaning have both environmental and genetic causes. The traits can be scored at farm-level, and following recording, the traits can be included in the breeding goal and directional selection can be applied. However, to further increase the genetic progress of these traits, it is advantageous to develop indicator traits on the selection candidates (test boars or gilts, not yet exhibiting the phenotype themselves). It has previously been suggested that the scapula morphology and the spine of scapula might be a key factor for the sow to develop shoulder lesions...
February 19, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29471430/gwas-identifies-two-novel-colorectal-cancer-loci-at-16q24-1-and-20q13-12
#2
Chizu Tanikawa, Yoichiro Kamatani, Atsushi Takahashi, Yukihide Momozawa, Karine Leveque, Satoshi Nagayama, Koshi Mimori, Masaki Mori, Hideshi Ishii, Johji Inazawa, Jun Yasuda, Akito Tsuboi, Atsushi Shimizu, Makoto Sasaki, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Mariko Naito, Kenji Wakai, Teruhide Koyama, Toshiro Takezaki, Koichiro Yuji, Yoshinori Murakami, Yusuke Nakamura, Michiaki Kubo, Koichi Matsuda
Colorectal cancer is the fourth leading cause of cancer mortality worldwide. Genome-wide association studies (GWAS) identified more than 50 colorectal cancer loci. However, most of the previous studies were conducted in European populations, and host genetic factors among Japanese population are largely remained to be identified. To identify novel loci in the Japanese population, here, we performed a large-scale GWAS using 6,692 cases and 27,178 controls followed by a replication analysis using more than 11,000 case-control samples...
February 17, 2018: Carcinogenesis
https://www.readbyqxmd.com/read/29471266/genetic-characterization-of-respiratory-syncytial-virus-highlights-a-new-ba-genotype-and-emergence-of-the-on1-genotype-in-lyon-france-between-2010-and-2014
#3
Alexandre Gaymard, Maude Bouscambert-Duchamp, Maxime Pichon, Emilie Frobert, Julien Vallee, Bruno Lina, Jean-Sébastien Casalegno, Florence Morfin
BACKGROUND: Respiratory syncytial virus (RSV) is a well-recognized cause of respiratory tract infections. Based on G gene variations, 11 RSV-A and 36 RSV-B genotypes have been described to date. The ON1 genotype was detected in Ontario in 2010 and subsequently reported in several countries. OBJECTIVES: The objective of the present study was to investigate for the first time the RSV epidemiology and genotype diversity in France between 2010 and 2014. STUDY DESIGN: All respiratory samples received from patients with influenza-like illness or respiratory tract infection were screened for RSV infection by RT-PCR...
February 6, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29470945/porcine-circovirus-2-in-the-north-eastern-region-of-india-disease-prevalence-and-genetic-variation-among-the-isolates-from-areas-of-intensive-pig-rearing
#4
Priyanka Mukherjee, Amarjit Karam, Luit Barkalita, Prabodh Borah, Amit Kr Chakraborty, Samir Das, Kekungo Puro, Rajkumari Sanjukta, Sandeep Ghatak, Ingudam Shakuntala, Ram Gopal Laha, Arnab Sen, Indu Sharma
Porcine Circovirus type-2 (PCV-2) is considered as a major threat to the piggery sector in India. To ascertain the epidemiological status and infection level of PCV2, a pilot study was undertaken to find out the prevalence of PCV2 in swine population by ELISA and PCR in the interior and border areas of Meghalaya which includes the area where accessibility and medical aid is a rare phenomenon. A total of 249 serum samples were collected from October 2014 to February 2016 from three divisions of Meghalaya: Khasi, Jaintia and Garo Hills Divisions...
February 19, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29470806/screening-of-over-1000-indian-patients-with-breast-and-or-ovarian-cancer-with-a-multi-gene-panel-prevalence-of-brca1-2-and-non-brca-mutations
#5
Jaya Singh, Nishita Thota, Suhasini Singh, Shila Padhi, Puja Mohan, Shivani Deshwal, Soumit Sur, Mithua Ghosh, Amit Agarwal, Ramesh Sarin, Rosina Ahmed, Sachin Almel, Basumita Chakraborti, Vinod Raina, Praveen K DadiReddy, B K Smruti, Senthil Rajappa, Chandragouda Dodagoudar, Shyam Aggarwal, Manish Singhal, Ashish Joshi, Rajeev Kumar, Ajai Kumar, Deepak K Mishra, Neeraj Arora, Aarati Karaba, Satish Sankaran, Shanmukh Katragadda, Arunabha Ghosh, Vamsi Veeramachaneni, Ramesh Hariharan, Ashraf U Mannan
PURPOSE: Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized. METHODS: We sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29470622/genetic-dissection-of-wheat-panicle-traits-using-linkage-analysis-and-a-genome-wide-association-study
#6
Kai Liu, Xiaoxiao Sun, Tangyuan Ning, Xixian Duan, Qiaoling Wang, Tongtong Liu, Yuling An, Xin Guan, Jichun Tian, Jiansheng Chen
Coincident regions on chromosome 4B for GW, on 5A for SD and TSS, and on 3A for SL and GNS were detected through an integration of a linkage analysis and a genome-wide association study (GWAS). In addition, six stable QTL clusters on chromosomes 2D, 3A, 4B, 5A and 6A were identified with high PVE% on a composite map. The panicle traits of wheat, such as grain number per spike and 1000-grain weight, are closely correlated with grain yield. Superior and effective alleles at loci related to panicles developments play a crucial role in the progress of molecular improvement in wheat yield breeding...
February 22, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29470600/genetic-mapping-populations-for-conducting-high-resolution-trait-mapping-in-plants
#7
James Cockram, Ian Mackay
Fine mapping of quantitative trait loci (QTL) is the route to more detailed molecular characterization and functional studies of the relationship between polymorphism and trait variation. It is also of direct relevance to breeding since it makes QTL more easily integrated into marker-assisted breeding and into genomic selection. Fine mapping requires that marker-trait associations are tested in populations in which large numbers of recombinations have occurred. This can be achieved by increasing the size of mapping populations or by increasing the number of generations of crossing required to create the population...
February 23, 2018: Advances in Biochemical Engineering/biotechnology
https://www.readbyqxmd.com/read/29470539/divergence-in-male-sexual-odor-signal-and-genetics-across-populations-of-the-red-mason-bee-osmia-bicornis-in-europe
#8
Taina Conrad, Robert J Paxton, Günter Assum, Manfred Ayasse
In some insect species, females may base their choice for a suitable mate on male odor. In the red mason bee, Osmia bicornis, female choice is based on a male's odor bouquet as well as its thorax vibrations, and its relatedness to the female, a putative form of optimal outbreeding. Interestingly, O. bicornis can be found as two distinct color morphs in Europe, which are thought to represent subspecies and between which we hypothesize that female discrimination may be particularly marked. Here we investigated (i) if these two colors morphs do indeed represent distinct, reproductively differentiated populations, (ii) how odor bouquets of male O...
2018: PloS One
https://www.readbyqxmd.com/read/29470493/effective-polyploidy-causes-phenotypic-delay-and-influences-bacterial-evolvability
#9
Lei Sun, Helen K Alexander, Balazs Bogos, Daniel J Kiviet, Martin Ackermann, Sebastian Bonhoeffer
Whether mutations in bacteria exhibit a noticeable delay before expressing their corresponding mutant phenotype was discussed intensively in the 1940s to 1950s, but the discussion eventually waned for lack of supportive evidence and perceived incompatibility with observed mutant distributions in fluctuation tests. Phenotypic delay in bacteria is widely assumed to be negligible, despite the lack of direct evidence. Here, we revisited the question using recombineering to introduce antibiotic resistance mutations into E...
February 22, 2018: PLoS Biology
https://www.readbyqxmd.com/read/29470455/urban-rural-county-and-state-differences-in-chronic-obstructive-pulmonary-disease-united-states-2015
#10
Janet B Croft, Anne G Wheaton, Yong Liu, Fang Xu, Hua Lu, Kevin A Matthews, Timothy J Cunningham, Yan Wang, James B Holt
Chronic obstructive pulmonary disease (COPD) accounts for the majority of deaths from chronic lower respiratory diseases, the third leading cause of death in the United States in 2015 and the fourth leading cause in 2016.* Major risk factors include tobacco exposure, occupational and environmental exposures, respiratory infections, and genetics.† State variations in COPD outcomes (1) suggest that it might be more common in states with large rural areas. To assess urban-rural variations in COPD prevalence, hospitalizations, and mortality; obtain county-level estimates; and update state-level variations in COPD measures, CDC analyzed 2015 data from the Behavioral Risk Factor Surveillance System (BRFSS), Medicare hospital records, and death certificate data from the National Vital Statistics System (NVSS)...
February 23, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29470314/genetic-variation-in-p2rx7-and-pain-tolerance
#11
O Kambur, M A Kaunisto, B S Winsvold, T Wilsgaard, A Stubhaug, J A Zwart, E Kalso, C S Nielsen
P2X7 is a non-selective cation channel activated by extracellular ATP. P2X7 activation contributes to the pro-inflammatory response to injury or bacterial invasion and mediates apoptosis. Recently, P2X7 function has been linked to chronic inflammatory and neuropathic pain. P2X7 may contribute to pain modulation both by effects on peripheral tissue injury underlying clinical pain states, and through alterations in central nervous system processing, as suggested by animal models. To further test its role in pain sensitivity, we examined whether variation within the P2RX7 gene, which encodes the P2X7 receptor, was associated with experimentally induced pain in human patients...
February 20, 2018: Pain
https://www.readbyqxmd.com/read/29470191/characterization-of-postinfusion-phenotypic-differences-in-fresh-versus-cryopreserved-tcr-engineered-adoptive-cell-therapy-products
#12
Theodore S Nowicki, Helena Escuin-Ordinas, Earl Avramis, Bartosz Chmielowski, Thinle Chodon, Beata Berent-Maoz, Xiaoyan Wang, Paula Kaplan-Lefko, Lili Yang, David Baltimore, James S Economou, Antoni Ribas, Begoña Comin-Anduix
Adoptive cell therapy (ACT) consisting of genetically engineered T cells expressing tumor antigen-specific T-cell receptors displays robust initial antitumor activity, followed by loss of T-cell activity/persistence and frequent disease relapse. We characterized baseline and longitudinal T-cell phenotype variations resulting from different manufacturing and administration protocols in patients who received ACT. Patients with melanoma who enrolled in the F5-MART-1 clinical trial (NCT00910650) received infusions of MART-1 T-cell receptors transgenic T cells with MART-1 peptide-pulsed dendritic cell vaccination...
February 21, 2018: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29469964/impact-of-slco1b1-genotype-on-pediatric-simvastatin-acid-pharmacokinetics
#13
Jonathan B Wagner, Susan Abdel-Rahman, Leon Van Haandel, Andrea Gaedigk, Roger Gaedigk, Geetha Raghuveer, Ralph Kauffman, J Steven Leeder
This study investigated the impact of allelic variation in SLCO1B1, a gene encoding for the liver-specific solute carrier organic anion transporter family member 1B1 protein (SLCO1B1), on simvastatin and simvastatin acid (SVA) systemic exposure in children and adolescents. Participants (8-20 years old) with at least 1 variant SLCO1B1 c.521T>C allele (521TC, n = 15; 521CC, n = 2) and 2 wild-type alleles (521TT, n = 15) completed a single oral dose pharmacokinetic study. At equivalent doses, SVA exposure was 6...
February 22, 2018: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29469356/-genetic-variation-of-thelazia-callipaeda-among-isolates-collected-from-patients-in-zunyi-city-guizhou-province
#14
Zheng Ming-Hui, Ye Chang-Lin, Jiang Nan, Luo Bo, Shen Yu-Juan, He Li-Fang, Liu Hui
OBJECTIVE: To identify the genetic variation and possible sources of Thelazia callipaeda isolates collected from patients in Zunyi City, Guizhou Province. METHODS: Seven cases of T. callipaeda infection in Zunyi City, 2016 were verified, and DNA (s) were extracted from the T. callipaeda 's body collected from the thelaziasis patients. A mitochondrial COX1 fragment was amplified and sequenced. The sequence alignment and phylogenetical analysis were performed to compare the genetic variation of the gene sequence with the homologous sequences downloaded from Genebank...
September 27, 2017: Zhongguo Xue Xi Chong Bing Fang Zhi za Zhi, Chinese Journal of Schistosomiasis Control
https://www.readbyqxmd.com/read/29469189/incorporation-of-gsta1-genetic-variations-into-a-population-pharmacokinetic-model-for-iv-busulfan-in-paediatric-hematopoietic-stem-cell-transplantation
#15
T Nava, N Kassir, M A Rezgui, C R S Uppugunduri, P Huezo-Diaz Curtis, M Duval, Y Théoret Y, L E Daudt, C Litalien, M Ansari, M Krajinovic, H Bittencourt
AIMS: To develop a population pharmacokinetic (PopPK) model for intravenous busulfan in children that incorporates variants of GSTA1, gene coding for the main enzyme in busulfan imetabolism. METHODS: Busulfan concentration-time data was collected from 112 children and adolescents (median 5.4 years old, range: 0.1 to 20) who received intravenous busulfan during the conditioning regimen prior to stem cell transplantation. Weight, sex, baseline disease (malignant vs...
February 22, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29468970/comparative-genetic-variability-in-hiv-1-subtype-c-vpu-gene-in-early-age-groups-of-infants
#16
Uma Sharma, Poonam Gupta, Sunil Gupta, S Venkatesh, Mohammad Husain
OBJECTIVE: Identifying the genetic variability in vertically transmitted viruses in early infancy is important to understand the disease progression. Being important in HIV-1 disease pathogenesis, vpu gene, isolated from young infants was investigated to understand the viral characteristics. METHOD: Blood samples were obtained from 80 HIV-1 positive infants, categorized in two age groups; acute (<6 months) and early (>6-18 months). A total of 77 PCR positive samples, amplified for vpu gene, were sequenced and analyzed...
February 19, 2018: Current HIV Research
https://www.readbyqxmd.com/read/29468687/genome-wide-association-mapping-of-the-architecture-of-susceptibility-to-the-root-knot-nematode-meloidogyne-incognita-in-arabidopsis-thaliana
#17
Sonja Warmerdam, Mark G Sterken, Casper van Schaik, Marian E P Oortwijn, Octavina C A Sukarta, Jose L Lozano-Torres, Marcel Dicke, Johannes Helder, Jan E Kammenga, Aska Goverse, Jaap Bakker, Geert Smant
Susceptibility to the root-knot nematode Meloidogyne incognita in plants is thought to be a complex trait based on multiple genes involved in cell differentiation, growth and defence. Previous genetic analyses of susceptibility to M. incognita have mainly focused on segregating dominant resistance genes in crops. It is not known if plants harbour significant genetic variation in susceptibility to M. incognita independent of dominant resistance. To study the genetic architecture of susceptibility to M. incognita, we analysed nematode reproduction on a highly diverse set of 340 natural inbred lines of Arabidopsis thaliana with genome-wide association mapping...
February 22, 2018: New Phytologist
https://www.readbyqxmd.com/read/29468654/experimental-evolution-across-different-thermal-regimes-yields-genetic-divergence-in-recombination-fraction-but-no-divergence-in-temperature-associated-plastic-recombination
#18
Kathryn P Kohl, Nadia D Singh
Phenotypic plasticity is pervasive in nature. One mechanism underlying the evolution and maintenance of such plasticity is environmental heterogeneity. Indeed, theory indicates that both spatial and temporal variation in the environment should favor the evolution of phenotypic plasticity under a variety of conditions. Cyclical environmental conditions have also been shown to yield evolved increases in recombination frequency. Here were use a panel of replicated experimental evolution populations of D. melanogaster to test whether variable environments favor enhanced plasticity in recombination rate and/or increased recombination rate in response to temperature...
February 22, 2018: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29468039/differences-among-six-woody-perennials-native-to-northern-europe-in-their-level-of-genetic-differentiation-and-adaptive-potential-at-fine-local-scale
#19
Albin Lobo, Jon Kehlet Hansen, Lars Nørgaard Hansen, Erik Dahl Kjær
The ability of perennial species to adapt their phenology to present and future temperature conditions is important for their ability to retain high fitness compared to other competing plant species, pests, and pathogens. Many transplanting studies with forest tree species have previously reported substantial genetic differentiation among populations within their native range. However, the question of "how local is local" is still highly debated in conservation biology because studies on genetic patterns of variation within and among populations at the local scale are limited and scattered...
February 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29468038/functional-trade-offs-and-the-phylogenetic-dispersion-of-seed-traits-in-a-biodiversity-hotspot-of-the-mountains-of-southwest-china
#20
Kai Chen, Kevin S Burgess, Xiang-Yun Yang, Ya-Huang Luo, Lian-Ming Gao, De-Zhu Li
The diversity of traits associated with plant regeneration is often shaped by functional trade-offs where plants typically do not excel at every function because resources allocated to one function cannot be allocated to another. By analyzing correlations among seed traits, empirical studies have shown that there is a trade-off between seedling development and the occupation of new habitats, although only a small range of taxa have been tested; whether such trade-off exists in a biodiverse and complex landscape remains unclear...
February 2018: Ecology and Evolution
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